Announcements & Documents
Education Information
1983 - 1986
1983 - 1986Postgraduate
Ankara University, Ankara Tıp Fakültesi, Tıbbi Biyoloji-Genetik, Turkey
Dissertations
1998
1998Doctorate
DNA Spesifik Problarının Kullanımı İle Yapısal Seks Kromozom Anomalilerinin Araştırılması
Istanbul University, Health Sciences Institute, Genetik
1986
1986Postgraduate
Vicia Faba Kök Uçlarında Mitomisin C’nin ve ISI+Mitomisin C’nin Etkilerinin Sitogenetik Araştırması
Ankara University, Sağlık Bilimleri Enstitüsü, Tıbbi Biyoloji -Genetik
Foreign Languages
C1 Advanced
C1 AdvancedEnglish
Research Areas
Medicine
Internal Medicine Sciences
Medical Genetics
Life Sciences
Molecular Biology and Genetics
Genetic Disorders
Health Sciences
Natural Sciences
Academic Titles / Tasks
2019 - Continues
2019 - ContinuesProfessor
Istanbul University, Instıtute of Chıld Health, Dahili Tıp Bilimleri Bölümü
2009 - 2019
2009 - 2019Associate Professor
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
1998 - 2009
1998 - 2009Research Assistant PhD
Istanbul University, Instıtute of Chıld Health, Dahili Tıp Bilimleri Bölümü
1986 - 1998
1986 - 1998Research Assistant
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
Non Academic Experience
1986 - 2009
1986 - 2009ARAŞTIRMA GÖREVLİSİ
İSTANBUL ÜNİVERSİTESİ, ÇOCUK SAĞLIĞI ENSTİTÜSÜ, TIBBİ GENETİK BİLİM DALI
Courses
Undergraduate
Undergraduate14 Laboratuar uygulama dersi: Prenatal/Moleküler sitogenetik tanı testleri
Undergraduate
UndergraduateLaboratory Practice Course Prenatal Molecular Cytogenetic Diagnostic Tests
Postgraduate
PostgraduateKromozomal kalıtım, kromozom anomalilerinin oluşum mekanizmaları ve sınıflandırması
Postgraduate
PostgraduatePrenatal kromozom anomalileri ve genetik danışma- Tarama testleri ve genetik danışma
Doctorate
DoctorateMikrodelesyon sendromları:DGS/VCFS, Williams send., PWS/AS, 1p tel delesyonu, SMS/MDS
Doctorate
DoctorateOtozomal sayısal kromozom anomali sendromları: Down Sendromu, Ender görülen otozomal trizomiler: Tri 18, 13, 8, 9 vd
Doctorate
DoctorateX Ve Y Kromozomu Sayısal Anomalileri Turner Send., Triple X, Klinefelter Send. Ve Variantları,
Doctorate
DoctorateOtozomal kromozomların yapısal anomali sendromları:5p-, 4p-, 13q-, 18p-, 18q- sendromları
Advising Theses
2024
2024Postgraduate
Boy Kısalığı Patofizyolojisinde Rol Oynayan SHOX Gen Mutasyonlarının Klasik ve Güncel Tekniklerin Kullanımı ile Araştırılması
Karaman B. (Advisor)
B.öykü(Student)
2023
2023Postgraduate
Array CGH Çalışmasında Saptanan Kopya Sayısı Değişimlerinin Sınıflandırılması
Karaman B., Selçuk B. Ş. (Co-Advisor)
A.Selen(Student)
2023
2023Doctorate
Investigation of Genes Responsible for Diaphragmatic Developmental Defects with Next Generation Sequencing Technologies.
Karaman B., Güleç Ç. (Co-Advisor)
S.HEIDARGHOLIZADEH(Student)
2021
2021Postgraduate
"Benzer Klinik Bulgular Gösteren Birden Fazla Etkilenmiş Olgu Bulunan Ailelerde Genetik Etiyolojinin Tüm Ekzom Dizileme Yöntemi İle Araştırılması
Karaman B. (Advisor)
G.BULUT(Student)
2018
2018Postgraduate
BOY KISALIĞININ GENETİK ETİYOLOJİSİNİN ARAŞTIRILMASI
Karaman B., TOKSOY G. (Co-Advisor)
A.Najaflı(Student)
2016
2016Postgraduate
Array-CGH Analizlerinde Saptanan De Novo Değişimlerin Konfirmasyonunda Kullanılan Tekniklerin Standardizasyonu
KARAMAN B.
G.Kumbasar(Student)
2012
2012Postgraduate
FETAL MERKEZİ SİNİR SİSTEMİ ANOMALiLERİNDE SUBMİKROSKOBİK KROMOZOM ANOMALİLERİNİN MOLEKÜLER TEKNİKLERLE ARASTIRILMASI
KARAMAN B.
S.Ergin(Student)
Designed Courses And Trainings
June 2022
June 2022Prenatal Tanı Kursu
Academic Units - Course
Karaman B., Başaran S., Yirmibeş Karaoğuz M., Artan S.
October 2021
October 2021Genetik Okuryazarlık
Academic Units - Course
Karaman B., Başaran S., Bayrak A. E., Suer İ.
Published journal articles indexed by SCI, SSCI, and AHCI
2024
2024A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus
Bulut G., Turgut G. T., Toksoy G., Altunoğlu U., Aslanger A. D., Uyguner Z. O., et al.
MOLECULAR SYNDROMOLOGY
, vol.4, no.45, pp.1-8, 2024 (SCI-Expanded)
2024
2024Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
Turgut G. T., Altunoglu U., Gulec Ç., Sarac Sivrikoz T., Kalaycı T., Toksoy G., et al.
CLINICAL GENETICS
, vol.105, no.6, pp.596-610, 2024 (SCI-Expanded)
2024
2024Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
Senturk L., Gulec Ç., Sarac Sivrikoz T., Kayserili H., Kalelioglu I. H., Avci S., et al.
FETAL DIAGNOSIS AND THERAPY
, vol.51, no.3, pp.285-299, 2024 (SCI-Expanded)
2023
2023Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
Theil A. F., Pines A., Kalayci T., Heredia-Genestar J. M., Raams A., Rietveld M. H., et al.
EMBO molecular medicine
, 2023 (SCI-Expanded)
2023
2023A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.
Berkay E. G., Karaman B., Başaran S.
Systems biology in reproductive medicine
, pp.1-7, 2023 (SCI-Expanded)
2023
2023Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
Turgut G. T., Kalelioglu I. H., Karaman V., Sivrikoz T. S., Karaman B., Uyguner Z. O., et al.
MOLECULAR SYNDROMOLOGY
, vol.14, no.2, pp.152-157, 2023 (SCI-Expanded)
2023
2023Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Kalayci T., Altunoglu U., Çorbacioglu Esmer A., Avcı Ş., Sarac Sivrikoz T., Karaman B., et al.
American journal of medical genetics. Part A
, vol.191, no.2, pp.498-509, 2023 (SCI-Expanded)
2023
2023Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH
Anlaş Ö., Ölmez A., Karaman B., Düzcan F., Yüksel S., Tümkaya F., et al.
MOLECULAR SYNDROMOLOGY
, vol.1, no.1, pp.1-5, 2023 (SCI-Expanded)
2023
2023Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
GEDİKBAŞI A., TOKSOY G., KARACA M., GÜLEÇ Ç., BALCI M. C., Gunes D., et al.
FRONTIERS IN GENETICS
, vol.14, 2023 (SCI-Expanded)
2023
2023<i>PROKR2</i> Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Kardelen A. D., Najafli A., Baş F., Karaman B., Toksoy G., Poyrazoğlu Ş., et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, vol.15, no.4, pp.338-347, 2023 (SCI-Expanded)
2022
2022Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
BAŞARAN S., HAS R., KALELİOĞLU İ. H., Sivrikoz T. S., KARAMAN B., Kirgiz M., et al.
GENES
, vol.13, no.12, 2022 (SCI-Expanded)
2022
2022Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13
Kaya M., Suer İ., Kalayci T., Karaman B., Ozturk Ş., Palanduz Ş.
SCOTTISH MEDICAL JOURNAL
, vol.67, no.4, pp.173-177, 2022 (SCI-Expanded)
2022
2022Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results
Ozturk A. P., Aslanger A., Ozturan E. K., Konur E. N., Gulec C., Karaman V., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 2, pp.313, 2022 (SCI-Expanded)
2022
2022Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N., Uyguner Z. O., Bas F., Altunoglu U., Toksoy G., Karaman B., et al.
Journal of clinical research in pediatric endocrinology
, vol.14, no.2, pp.153-171, 2022 (SCI-Expanded)
2022
2022Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
Turgut G. T., Altunoglu U., Sivrikoz T. S., Toksoy G., Kalayci T., Avci S., et al.
Clinical genetics
, vol.101, no.4, pp.421-428, 2022 (SCI-Expanded)
2022
2022Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.
Sarac Sivrikoz T., Basaran S., Has R., Karaman B., Kalelioglu I. H., Kirgiz M., et al.
Archives of gynecology and obstetrics
, vol.305, no.2, pp.323-342, 2022 (SCI-Expanded)
2022
2022Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia
Turgut G. T., Güleç Ç., Saraç Sivrikoz T., Kale H., Karaman B., Nishimura G., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.188, no.1, pp.253-258, 2022 (SCI-Expanded)
2021
2021Evaluation of early puberty in boys and girls with Silver-Russell Syndrome: Discordance between testicular growth and pituitary-gonadal hormones in male cases
Yildiz M., Bas F., Karaman B., Poyrazoglu Ş., Basaran S., Darendeliler F.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 1, pp.135-136, 2021 (SCI-Expanded)
2021
2021Phenotypic Characteristics of Patients with 45,X/46,XY Mosaicism: Growth, Gonadal Pathology and Tumour Risk
Poyrazoglu Ş., Bas F., Karaman B., Yildiz M., Basaran S., Darendeliler F.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 1, pp.86-87, 2021 (SCI-Expanded)
2021
2021Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability
KARAMAN MERCAN T., ALTIOK CLARK Ö., Erkal O., NUR B., MIHÇI E., KARAMAN B., et al.
CYTOGENETIC AND GENOME RESEARCH
, vol.161, no.3-4, pp.153-159, 2021 (SCI-Expanded)
2021
2021Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism
Poyrazoglu Ş., Bas F., Karaman B., Yildiz M., Başaran S., Darendeliler F. F.
CLINICAL ENDOCRINOLOGY
, vol.94, no.6, pp.973-979, 2021 (SCI-Expanded)
2021
2021Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.
Satkin N. B., Karaman B., Ergin S., Kayserili H., Kalelioglu I. H., Has R., et al.
Balkan journal of medical genetics : BJMG
, vol.23, no.2, pp.25-34, 2021 (SCI-Expanded)
2021
2021A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF-1 axis and GH therapy response
Ozer E., KARAMAN B., Gunes N., Evliyaoglu O., Tuysuz B.
TURKISH JOURNAL OF PEDIATRICS
, vol.63, no.1, pp.174-180, 2021 (SCI-Expanded)
2020
2020A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Berkay E. G., Karaman B., Toksoy G., Selçuk B. Ş., Uyguner Z. O., Başaran S.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.28, no.SUPPL 1, pp.155-156, 2020 (SCI-Expanded)
2020
2020Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
Toksoy G., Uludaǧ Alkaya D., Bagirova G., Avcl Ş., Aghayev A., Günes N., et al.
MOLECULAR SYNDROMOLOGY
, vol.11, no.4, pp.183-196, 2020 (SCI-Expanded)
2020
2020Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.
Alkaya D. U., Karaman B., Tüysüz B.
Molecular syndromology
, vol.11, no.11, pp.97-103, 2020 (SCI-Expanded)
2020
2020PRENATAL DIAGNOSIS OF A DE NOVO PARTIAL TRISOMY 6q AND PARTIAL MONOSOMY 18p ASSOCIATED WITH CEPHALOCELE: A CASE REPORT
Karaman A., KARAMAN B., Cetinkaya A., Karaman S., Demirci O.
BALKAN JOURNAL OF MEDICAL GENETICS
, vol.23, no.1, pp.99-102, 2020 (SCI-Expanded)
2020
2020Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings.
Basaran S., Has R., Kalelioglu I. H., Karaman B., Kirgiz M., Dehgan T., et al.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)
, vol.41, pp.175-185, 2020 (SCI-Expanded)
2019
2019Clinical and Genetic Investigation of Premature Ovarian Insufficiency Cases from Turkey
Oral E., Toksoy G., Sofiyeva N., Celik H. G., Karaman B., Basaran S., et al.
JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION
, vol.48, pp.817-823, 2019 (SCI-Expanded)
2019
2019Array-CGH Analizlerinde Saptanan De Novo Değişimlere Klinik Genetik Yaklaşım
Kumbasar G., TOKSOY G., BAŞARAN S., KARAMAN B.
Gazi Medical Journal , vol.30, no.4, pp.361-364, 2019 (SSCI)
2019
2019Genetic Evaluation of Idiopathic Short Stature
Karaman B., Bas F., Najafli A., Avci S., Al A. D. K., Toksoy G., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.91, pp.323, 2019 (SCI-Expanded)
2019
2019Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development
Poyrazoglu S., Toksoy G., Aghayev A., Karaman B., Avci S., Altunoglu U., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.91, pp.193, 2019 (SCI-Expanded)
2019
2019Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling
Toksoy G., Durmus H., Aghayev A., Bagirova G., Rustemoglu B. S., Basaran S., et al.
NEUROMUSCULAR DISORDERS
, no.8, pp.601-613, 2019 (SCI-Expanded)
2019
2019Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.
Turkyilmaz G., Sarac Sivrikoz T., Erturk E., Ozcan N., Tatlı B., Karaman B., et al.
The journal of obstetrics and gynaecology research
, vol.45, no.8, pp.1472-1478, 2019 (SCI-Expanded)
2019
2019OriginalArticleClinicalandGeneticInvestigationofPrematureOvarianInsufficiencyCasesfromTurkey
ORAL E., TOKSOY G., SOFIYEVA N., Göksever H., KARAMAN B., BAŞARAN S., et al.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS , vol.1580, pp.1-7, 2019 (SCI-Expanded)
2018
2018Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
Karaman B., Kayserili H., Ghanbari A., Uyguner Z. O., Toksoy G., Altunoglu U., et al.
MOLECULAR CYTOGENETICS
, vol.11, 2018 (SCI-Expanded)
2018
2018A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
Kardelen A. D., Toksoy G., Bas F., Abali Z. Y., Gencay G., Poyrazoglu S., et al.
Journal of clinical research in pediatric endocrinology
, vol.10, no.3, pp.206-215, 2018 (SCI-Expanded)
2018
2018Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F., Toksoy G., Ergun-Longmire B., Uyguner Z. O., Abalı Z., Poyrazoğlu Ş., et al.
The Journal of steroid biochemistry and molecular biology
, vol.181, pp.88-97, 2018 (SCI-Expanded)
2018
2018Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome.
ÇETIN Ö., YALÇıNKAYA C., Karaman B., DEMIRBILEK V., TÜYSÜZ B.
Epileptic disorders : international epilepsy journal with videotape
, vol.20, pp.219-224, 2018 (SCI-Expanded)
2018
2018RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
Szenker-Ravi E., Altunoglu U., Leushacke M., Boss-Lefevre C., Khatoo M., Hong Thi Tran H. T. T., et al.
NATURE
, vol.557, pp.564-584, 2018 (SCI-Expanded)
2018
2018Clinical, Laboratory and Molecular Genetic Findings of Patients with 17 beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Poyrazoglu S., Toksoy G., Aghayev A., Karaman B., Avci S., Altunoglu U., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.562, 2018 (SCI-Expanded)
2018
2018Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience
Aghayev A., Toksoy G., Poyrazoglu S., Karaman B., Avci S., Yildiz M., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.542, 2018 (SCI-Expanded)
2018
2018PROKR2 Mutations in Patients With Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Najafli A., Bas F., Karaman B., Kardelen Al A. D., Toksoy G., Poyrazoglu S., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.500, 2018 (SCI-Expanded)
2018
2018Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia
Bas F., Karaman B., Kardelen A. A. D., Heidargholizadeh S., Najafli A., Toksoy G., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.560, 2018 (SCI-Expanded)
2018
2018Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations
Poyrazoglu S., Aghayev A., Toksoy G., Karaman B., Avci S., Kardelen A. A. D., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.558-559, 2018 (SCI-Expanded)
2017
2017The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients
Karaman B., Kayserili H., Najafli A., Altunoglu U., Kumbasar G., Avci S., et al.
MOLECULAR CYTOGENETICS
, vol.10, 2017 (SCI-Expanded)
2017
2017The Role of Mosaicism in Discordant cf DNA Testing Results
BAŞARAN S., KARAMAN B., Aytan M. K., Dehgan T., KALELİOĞLU İ. H., HAS R., et al.
MOLECULAR CYTOGENETICS
, vol.10, 2017 (SCI-Expanded)
2015
2015False positive and false negative results of cell free DNA testing
Basaran S., Yuksel A., Has R., Kirgiz M., Dehgan T., Karaman B.
CHROMOSOME RESEARCH
, vol.23, 2015 (SCI-Expanded)
2015
2015PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH
Yakut Uzuner S., Çetin Z., Sanhal C. Y., Karaüzüm S., Karaman B., Şimşek M.
Genetic Counseling , vol.26, no.3, pp.299-305, 2015 (SCI-Expanded)
2015
2015PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13).
Yakut S., Cetin Z., Sanhal C., Karaman B., Mendilcioglu I., Karauzum S. B.
Genetic counseling (Geneva, Switzerland)
, vol.26, no.2, pp.243-7, 2015 (SCI-Expanded)
2015
2015PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH.
Yakut S., Cetin Z., Sanhal C., Karauzum S. B., Karaman B., Simsek M.
Genetic counseling (Geneva, Switzerland)
, vol.26, no.3, pp.299-305, 2015 (SCI-Expanded)
2014
2014Chromo-pharmacophores: photochromic diarylmaleimide inhibitors for sirtuins
Falenczyk C., Schiedel M., Karaman B., Rumpf T., Kuzmanovic N., Grotli M., et al.
CHEMICAL SCIENCE
, vol.5, no.12, pp.4794-4799, 2014 (SCI-Expanded)
2013
2013Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype
Rosti R. O., Karaer K., Karaman B., Torun D., Güran S., Bahçe M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.7, pp.1737-1742, 2013 (SCI-Expanded)
2013
2013Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype
Toksoy G., Satkin B. N., Kayserili H., Karaman B., Basaran S.
CHROMOSOME RESEARCH
, vol.21, 2013 (SCI-Expanded)
2013
2013Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases
Karaman B., Satkin B. N., Kayserili H., Basaran S.
CHROMOSOME RESEARCH
, vol.21, 2013 (SCI-Expanded)
2012
2012Cardiovascular abnormalities in Williams syndrome: 20 years' experience in Istanbul
Ergul Y., Nisli K., Kayserili H., Karaman B., Basaran S., Koca B., et al.
ACTA CARDIOLOGICA
, vol.67, no.6, pp.649-655, 2012 (SCI-Expanded)
2012
2012A large duplication involving the IHH locus mimics acrocallosal syndrome
Yuksel-Apak M., Boegershausen N., Pawlik B., Li Y., Apak S., Uyguner O., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.20, no.6, pp.639-644, 2012 (SCI-Expanded)
2012
2012Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography
Ergul Y., Nisli K., Kayserili H., Karaman B., Basaran S., Dursun M., et al.
CARDIOLOGY JOURNAL
, vol.19, no.3, pp.301-308, 2012 (SCI-Expanded)
2011
2011Haploinsufficiency of SHH gene caused by deletion of 7q36 -> qter: holoprosencephaly sequence in 5 cases
Satkin B., Kayserili H., Kalelioglu I., Karaman B., Uyguner O., Has R., et al.
CHROMOSOME RESEARCH
, vol.19, 2011 (SCI-Expanded)
2011
2011TURNER SYNDROME WITH ISOCHROMOSOME Xq AND FAMILIAL RECIPROCAL TRANSLOCATION t(4;16)(p15.2;p13.1)
Cetin Z., MENDİLCİOĞLU İ. İ., Yakut S., Berker-Karauzum S., Karaman B., Luleci G.
BALKAN JOURNAL OF MEDICAL GENETICS
, vol.14, no.1, pp.57-60, 2011 (SCI-Expanded)
2009
2009A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
Karaman B., Rosti R. O., Yilmaz K., Ozturk H., Kayserili H., Basaran S.
TURKISH JOURNAL OF PEDIATRICS
, vol.51, no.6, pp.613-616, 2009 (SCI-Expanded)
2009
2009Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
Uzumcu A., Karaman B., Toksoy G., Uyguner Z. O., Candan S., Eris H., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, vol.52, no.5, pp.315-320, 2009 (SCI-Expanded)
2009
2009Mutational screening of BASP1 and transcribed processed pseudogene TP Psi g-BASP1 in patients with Mobius syndrome
Uzumcu A., Candan S., Toksoy G., Uyguner Z. O., Karaman B., Eris H., et al.
JOURNAL OF GENETICS AND GENOMICS
, vol.36, no.4, pp.251-256, 2009 (SCI-Expanded)
2008
2008Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years.
Nisli K., Oner N., Candan S., Kayserili H., Tansel T., Tireli E., et al.
Acta cardiologica
, vol.63, no.5, pp.585-9, 2008 (SCI-Expanded)
2008
2008Angelman syndrome: clinical findings and follow-up data of 14 patients
Kara B., Karaman B., Ozmen M., Rosti R. O., Caliskan M., Kayserili H., et al.
TURKISH JOURNAL OF PEDIATRICS
, vol.50, no.2, pp.137-142, 2008 (SCI-Expanded)
2007
2007Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method
Semerci C. N., Satiroglu-Tufan N. L., Turan S., Bereket A., Tuysuz B., Yilmaz E., et al.
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
, vol.211, no.3, pp.243-249, 2007 (SCI-Expanded)
2007
2007A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.
Uyguner O., Kayserili H., Li Y., Karaman B., Nuernberg G., Hennies H. C., et al.
Clinical genetics
, vol.71, no.3, pp.212-9, 2007 (SCI-Expanded)
2006
2006The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey
KARAMAN B., Aytan M., Yılmaz K., Toksoy G., Önal E. P., Ghanbari A., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , vol.49, no.3, pp.207-14, 2006 (SCI-Expanded)
2005
2005Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings
Aslan H., Karaman B., Yıldırım G., Ceylan Y.
PRENATAL DIAGNOSIS
, vol.25, no.11, pp.1024-1027, 2005 (SCI-Expanded)
2005
200518q deletion syndrome associated with autoimmune thyroid disease presenting as hyperthyroidism
Tütüncüler F., Darendeliler F. F., Günöz H., Karaman B., Kayserili H.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, vol.18, no.4, pp.419-420, 2005 (SCI-Expanded)
2005
2005Mosaic supernumerary r(8) syndrome.
Yilmaz S., Tarkan-Arguden Y., Kuru D., Deviren A., Karaman B., Yuksel A., et al.
Genetic counseling (Geneva, Switzerland)
, vol.16, no.2, pp.187-90, 2005 (SCI-Expanded)
2005
2005Complex chromosomal rearrangements involving chromosomes 4, 5, 6, 9, 11 and 18 with 8 breakpoints in a pregnancy conceived by intracytoplasmic sperm injection
KARAMAN B., Yilmaz K., Kayserilli H., Yuksel-Apak M., BAŞARAN S.
CHROMOSOME RESEARCH
, vol.13, pp.71, 2005 (SCI-Expanded)
2004
2004The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses
Basaran S., ENGUR A., AYTAN M., Karaman B., GHANBARI A., Toksoy G., et al.
FETAL DIAGNOSIS AND THERAPY
, vol.19, no.4, pp.313-318, 2004 (SCI-Expanded)
2003
2003A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.
Karaman B., Wollnik B., Ermis H., Yuksel-Apak M., Basaran S.
Prenatal diagnosis
, vol.23, no.4, pp.336-9, 2003 (SCI-Expanded)
2002
2002Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.
Savas S., Eraslan S., Kantarci S., Karaman B., Acarsoz D., Tukel T., et al.
Prenatal diagnosis
, vol.22, no.8, pp.703-9, 2002 (SCI-Expanded)
2002
2002Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation.
Seven M., Karaman B., Hacihanefioglu S., Deviren A., Yuksel A., Basaran S.
Clinical dysmorphology
, vol.11, no.1, pp.39-42, 2002 (SCI-Expanded)
2001
2001HKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant
Decher N., Uyguner O., Scherer C., Karaman B., Yuksel-Apak M., Busch A., et al.
CARDIOVASCULAR RESEARCH
, vol.52, no.2, pp.255-264, 2001 (SCI-Expanded)
2000
2000A case of turner syndrome with a rare reciprocal translocation between an autosome and the X chromosome
PALANDUZ Ş., ÖZTÜRK Ş., ÇEFLE K., KARAMAN B., ÜSTEK D., BAŞARAN S.
BALKAN JOURNAL OF MEDICAL GENETICS , vol.3, pp.45-48, 2000 (AHCI)
1998
1998An unusual translocation between 12tel and 14q11 in a large kindred.
Palanduz S., Ustek D., Karaman B., Ozturk S., Cefle K., Basaran S.
Hereditas
, vol.128, no.3, pp.231-4, 1998 (SCI-Expanded)
1994
1994MATERNAL UNIPARENTAL DISOMY-22 HAS NO IMPACT ON THE PHENOTYPE
Schinzel A., BASARAN S., Bernasconi F., KARAMAN B., YUKSELAPAK M., Robinson W.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.54, no.1, pp.21-24, 1994 (SCI-Expanded)
Articles Published in Other Journals
2024
2024Seeing Clowns with a Ring 20 Chromosome
Gezegen H., İlgezdi Kaya İ., Karaman B., Kalaycı T., Şirin İnan N. G., Bebek N., et al.
Archives of epilepsy (Online) , vol.30, no.1, pp.31-35, 2024 (ESCI)
2023
2023Kardiyak Anomalili Fetüslerde Kromozomal Mikrodizin Analizinin Tanıdaki Etkinliği: Kohort Araştırması
ŞENTÜRK H., SELÇUK B. Ş., SARAÇ SİVRİKOZ T., KALAYCI T., ÖMEROĞLU R. N., BULUT G., et al.
Türkiye Klinikleri Tıp Bilimleri Dergisi
, vol.43, no.3, pp.302-313, 2023 (Scopus)
2023
2023A CASE REPORT OF A RARE NONSENSE ZP1 VARIANT IN A PATIENT WITH OOCYTE MATURATION DEFECT
Berkay E. G., Karaman B., Uyguner Z. O., Başaran S.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , vol.86, no.3, pp.264-268, 2023 (ESCI)
2022
2022CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE
Aslanger A. D., Kalaycı T., Konur E. N., Güleç Ç., Avcı Ş., Altunoğlu U., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.85, no.4, pp.501-510, 2022 (Scopus)
2022
2022LİZENSEFALİ SPEKTRUMU OLGULARINDA GENOTİP-FENOTİP İLİŞKİSİ
ASLANGER A. D., UYGUNER Z. O., KARAMAN B., BAŞARAN S., KAYSERİLİ KARABEY H.
Sabiad , 2022 (Peer-Reviewed Journal)
2022
2022INTER-POPULATION COMPARISONS AND THE IMPORTANCE IN INFECTIOUS DISEASES OF THE IRF7, TBK1, IFNAR1, IFNAR2 AND TLR3 GENE VARIANTS IN TURKISH INDIVIDUALS
Karacan A., Toksoy G., Uyguner O., Karaman B., Basaran S., Komurcu-Bayrak E.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.85, no.3, pp.344-354, 2022 (Scopus)
2021
2021HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES
KARAMAN B., Ergin S., Kayserili H., YÜKSEL A., Satkin N. B., KALELİOĞLU İ. H., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.84, no.2, pp.186-191, 2021 (ESCI)
2020
2020CHANGES IN CLINICAL AND CYTOGENETIC FINDINGS OF INVASIVE PRENATAL DIAGNOSIS FROM 1989 TO 2011 IN ISTANBUL IMPACT OF THE BIOCHEMICAL SCREENING TESTS AND FETAL ULTRASONOGRAPHY
BAŞARAN S., KARAMAN B., Kırgız M., KALELİOĞLU İ. H., HAS R., Dehgan T., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.83, no.4, pp.315-324, 2020 (ESCI)
2019
2019MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES
Karaman V., Toksoy G., Karaman B., Kayserili Karabey H., Basaran S., Altunoglu U., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.82, no.2, pp.116-122, 2019 (ESCI)
2019
2019A Rare Variant Translocation (t(5922)(q13q34q11.2)) In A Case With Chronic Myeloid Leukemia
ERKAL H., ÖZTÜRK Ş., YÜCEL S., ÇEFLE K., BAGATIR G., BAYRAK A., et al.
Tıp Fakültesi Klinikleri Dergisi , 2019 (Peer-Reviewed Journal)
2019
2019Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability.
Kaya M., Suer İ., Öztürk Ş., ÇEFLE K., Karaman B., Palanduz Ş.
F1000Research
, vol.8, pp.281, 2019 (Scopus)
2019
2019Clinical Genetic Approach to De Novo Changes Identified in Array-CGH Analysis
Kumbasar G., Toksoy G., Basaran S., Karaman B.
GAZI MEDICAL JOURNAL
, vol.30, no.4, pp.361-364, 2019 (ESCI)
2019
2019APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE
Toksoy G., Karaman B., Uyguner Z. O., Yilmaz K., Has R., Kayserili H., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.82, no.1, pp.5-11, 2019 (ESCI)
2018
2018Yeni Teknolojilerin Işığında Kromozom Anomalilerinin Tanısı
KARAMAN B.
Türkiye Klinikleri , vol.3, no.3, pp.4-8, 2018 (Peer-Reviewed Journal)
2018
2018RADİYAL IŞIN DEFEKTLERİNİN KLİNİK SINIFLANDIRMASI VE ETYOPATOGENEZİNİN ARAŞTIRILMASI
AVCI Ş., Toksoy G., BAGİROVA G., Altunoglu U., KARAMAN B., BAŞARAN S., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , 2018 (Peer-Reviewed Journal)
2018
2018CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS
Avci S., Toksoy G., Bagirova G., Altunoglu U., Karaman B., Basaran S., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, vol.81, no.4, pp.127-138, 2018 (ESCI)
2018
2018Prenatal Tanıda Saptanan Marker Kromozomlara Tanısal Yaklaşım
KARAMAN B.
Türkiye Klinikleri , vol.3, no.1, pp.53-57, 2018 (Peer-Reviewed Journal)
2014
2014Hemofagositik Lenfohistiyositoz ve Chediak Higashi Sendromu
VARKAL M. A., YILMAZ C., YILDIZ İ., KARAMAN S., KARAMAN B., DOĞAN İ. Ö., et al.
Çocuk Dergisi , vol.14, no.1, pp.36-39, 2014 (Peer-Reviewed Journal)
2009
2009Türk Noonan Sendromlu Hastalarda Genotip Fenotip İlişkisi
Altunoğlu U., Denmeyer E., Rosti R. Ö., KARAMAN B., KAYSERİLİ H.
TÜRKİYE KLİNİKLERİ PEDİATRİ DERGİSİ , vol.18, no.3, pp.174-80, 2009 (Scopus)
2007
2007Frajil-X Sendromu Tanısında 20 Yıllık Süreçteki Gelişmeler ve Deneyimlerimiz
KAYSERİLİ H., Tükel T., KARAMAN B., UYGUNER Z. O., Rosti R. Ö., Açarsöz D., et al.
Çocuk Kliniği ANADOLU KARDIYOLOJI DERGISI-THE ANATOLIAN JOURNAL OF CARDIOLOGY , vol.7, pp.18-22, 2007 (Peer-Reviewed Journal)
2007
2007Gebelikte trizomi 21 ve 18 için biokimyasal tarama testleri
BAŞARAN S., KARAMAN B., Öztürk H., Yılmaz K., Tükel T., KAYSERİLİ H., et al.
Çocuk Kliniği Dergisi , vol.7, pp.10-14, 2007 (Peer-Reviewed Journal)
2007
2007Down Sendromlu 1416 Postnatal Olgunun Kromozom Analiz Sonuçları
KARAMAN B., Öztürk H., Yılmaz K., BAŞARAN S., KAYSERİLİ H., Yüksel Apak M.
Çocuk Kliniği Dergisi , vol.7, pp.15-17, 2007 (Peer-Reviewed Journal)
2003
2003Clinical findings of two families with arrhythmogenic right ventricular dysplasia Ari̇tmojeni̇k saǧ ventri̊küler di̇splazi̇li̇ i̇ki̇ ai̇lede kli̇ni̇k ve geneti̇k bulgular
Wollnik B., Diri T., KARAMAN B., Karaarslan E., Ghanbari A., Adalet K., et al.
Turk Kardiyoloji Dernegi Arsivi
, vol.31, no.2, pp.88-95, 2003 (Scopus)
2001
2001Genetik Amniyosentezde Abortusu Etkileyen Faktörler: 1573 Olgunun Analizi
Aydınlı K., KARAMAN B., BAŞARAN S., Eriş H., Azaklı Z., Çağdaş A., et al.
JİNEKOLOJİ VE OBSTETRİK DERG. , vol.15, pp.140-150, 2001 (Peer-Reviewed Journal)
1999
1999Genetik Hastalıkların Prenatal Tanısı, 1995–1997 yıllarındaki uygulama ve araştırmalarımızın sonuçları
Yüksel Apak M., BAŞARAN S., Aydınlı K., KAYSERİLİ H., KARAMAN B., Açarsöz D., et al.
İst. Tıp Fakültesi Mecmuası , vol.62, no.4, pp.354-362, 1999 (Peer-Reviewed Journal)
1996
1996Koryon villus biopsisi deneyimlerimiz: invazif girişimler, sitogenetik sonuçlar ve fetal akıbetler
YÜKSEL A., BAŞARAN S., Ermiş H., İbrahimoğlu L., KARAMAN B., Kovancı E., et al.
TÜRKİYE KLİNİKLERİ JİNEKOLOJİ OBSTETRİK DERGİSİ , vol.6, no.6, pp.6-17, 1996 (Scopus)
1995
1995Duchenne Kas Distrofisi İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı Uygulamalarında Karşılaşılan Sorunlar
KAYSERİLİ H., Açarsöz D., Gökgöz N., BAŞARAN S., KARAMAN B., Kırdar B., et al.
İstanbul Çocuk Kliniği Dergisi , vol.30, pp.200-206, 1995 (Peer-Reviewed Journal)
1990
1990Nöral Tüp defektli Çocuklarda Vitanin Düzeyleri
Hacımustafaoğlu M., Deniz G., KARAMAN B.
HASEKİ TIP BÜLTENİ , vol.28, no.3, pp.199-205, 1990 (ESCI)
1990
1990Amniotik Sıvı, Trofoblast Dokusu ve Fetal Kan Örneğinde Sitogenetik İncelemeler: 527 Olguluk Serinin Sonuçları
BAŞARAN S., KARAMAN B., Aydınlı K., YÜKSEL A., İbrahimoğlu L., Yüksel Apak M.
JİNEKOLOJİ VE OBSTETRİK DERG. , vol.6, no.2, pp.81-89, 1990 (Peer-Reviewed Journal)
1989
1989Fetusde Saptanan t(13:14) Anomalisi Nedeniyle Sitogenetik Olarak İncelenen Bir Ailede Genetik Danışmanın Etkileri
Yüksel Apak M., Oğur G., KARAMAN B., Güler A., Helvacıoğlu A.
Jinekol ve Obst Dergisi , vol.3, pp.29-31, 1989 (Peer-Reviewed Journal)
1989
1989Duchenne Kas Distrofili Ailelerde DNA Analizi İle Taşıyıcı Tanısı
Tolun A., Türkdoğan N., Yüksel Apak M., KARAMAN B., Özdemir C.
DOĞA TU Sağlık Bilimleri Dergisi , vol.13, no.2, pp.173-182, 1989 (Peer-Reviewed Journal)
1989
1989Konjenital Malformasyonların Etyolojisinde Sitogenetik Faktörlerin Yeri ve Genetik Danışmada Önemi, 199 Vakanın Kromozom Analiz Sonuçları
Yüksel Apak M., Oğur G., KARAMAN B., Güler A., Neyzi O.
ÇOCUK SAĞLIĞI VE HASTALIKLARI DERGİSİ , vol.32, no.1, pp.1-13, 1989 (Scopus)
1985
1985Mozaik Down Sendromlu Bireylerin Hücrelerinde Satellit Asosiyasyonları
Bökesoy I., KARAMAN B., Dai D., Yeşıldağ M.
Ankara Tıp Bülteni , vol.7, pp.223-228, 1985 (Peer-Reviewed Journal)
Refereed Congress / Symposium Publications in Proceedings
2024
2024Disease associated Chromosome 1 Copy Number Variations: A Retrospective Case Series
Bulut G., Özsait Selçuk B. Ş., Heidargholizadeh S., Kalaycı T., Aslanger A. D., Çerçi S., et al.
European Human Genetics Conference 2024, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024Two cases of HDR syndrome due to a large deletion in the 10p15.3p14 region
Memiş G., Arslan H. K., Akbaş S., Aslanger A. D., Yeşil Sayın G., Yavuz S., et al.
European Human Genetics Conference 2024, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024: Approach to pathological ultrasound findings and invasive diagnostic test results: Istanbul experience.
Erdoğdu M., Kalaycı T., Saraç Sivrikoz T., Aslanger A. D., Memiş G., Karaman B.
European Human Genetics Conference 2024, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024Unraveling the complexity of Phelan-McDermid syndrome: A multifaceted exploration of clinical and molecular/cytogenetic findings in four cases
Yücesoy M. A., Akbaş S., Memiş G., Konur E., Durmaz D., Karaman V., et al.
European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024Clinical implications of copy number variations on chromosome 16
Heidargholizadeh S., Karaman B., Kalaycı T., Aslanger A. D., Bulut G., Turgut G. T., et al.
European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024Investigation of genetic etiology in familial CAKUT cases
Durmaz D., Toksoy G., Yürük Yıldırım Z., Aksu B., Bayramoğlu Z., Uyguner Z. O., et al.
European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024Investigation of the genetic etiology of short stature
Candan B. Ö., Toksoy G., Aslanger A. D., Baş F., Al A. K., Karaman B.
European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1
2024
2024Step-by-Step Genetic Insight into a Case of Growth Retardation (POSTER ID P13.067.A)
Tekin A., Toksoy G., Kına B. G., Karaman B., Özsait Selçuk B. Ş., Güleç Ç., et al.
European Society of Human Genetics Congress 2024, Berlin, Germany, 01 June 2024
2024
2024Investigation of genetic etiology in familial CAKUT cases (POSTER ID P05.030.B) )
DURMAZ D., TOKSOY G., Yürük Yıldırım Z., AKSU B., BAYRAMOĞLU Z., UYGUNER Z. O., et al.
European Society of Human Genetics 2024 Congress, Berlin, Germany, 01 June 2024
2024
2024Klassik sitogenetik analizlərin praktik əhəmiyyəti
Karaman B.
2. Azerbaycan Laboratuvar Tibb Kongresi, Baku, Azerbaijan, 2 - 04 May 2024, pp.1-3
2023
2023A NOVEL SPLICE SITE VARIANT IN FLNA GENE IDENTIFIED IN THREE SIBLINGS AFFECTED WITH MULTIPLE CONGENITAL ANOMALIES
Bulut G., Toksoy G., Altunoğlu U., Turgut G. T., Uyguner Z. O., Karaman B.
14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 5 - 07 October 2023, pp.100
2023
2023INVESTIGATION OF SHOX GENE MUTATIONS
Candan B. Ö., Aslanger A. D., Özsait Selçuk B. Ş., Bulut G., Toksoy G., Baş F., et al.
14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 5 - 07 October 2023, pp.91
2023
2023PRELIMINARY STUDY RESULTS OF FAMILIES’ WITH FETAL ULTRASOUND ABNORMALITIES APPROACHES TO INVASIVE DIAGNOSIS AND OUTCOMES IN PREGNANCIES
Erdoğdu M., Kalaycı T., Saraç Sivrikoz T., Aslanger A. D., Karaman B.
14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 5 - 07 October 2023, pp.135
2023
2023Investigation of Genetic Etiology of Short Stature
Karaman B., Najaflı A., Baş F., Darendeliler F. F.
14th European Cytogenomics Conference , Montpellier, France, 1 - 04 July 2023, pp.50
2023
2023Undiagnosed arthrogryposis: further expanding the molecular and phenotypic spectrum
Turgut G. T., Altunoğlu U., Saraç Sivrikoz T., Kalaycı T., Toksoy G., Avcı Ş., et al.
European Human Genetics Conference, Glasgow, England, 10 - 13 June 2023, vol.31, pp.101
2023
2023Lenfoproliferatif Hastalıklarda Ayırıcı Tanıda Düşünülmesi Gereken Nadir Bir Sendrom: RAS İlişkili Otoimmün Lökoproliferatif Hastalık
Yıldırım B. T., Akbaş S., Aslanger A. D., Karaman V., Yılmaz Y., Karaman S., et al.
2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi, Gazimagusa, Cyprus (Kktc), 4 - 07 May 2023, pp.111
2022
2022Smith-Magenis Sendromundan Etkilenmiş 6 Olgunun Klinik ve Sitogenetik/Moleküler Sitogenetik Bulguları ile Nörodavranışsal Fenotipleri
Yıldırım B. T., Aslanger A. D., Dinçel M., Karaman B.
44. PEDİATRİ GÜNLERİ 23. PEDİATRİ HEMŞİRELİĞi GÜNLERİ, 17 - 20 April 2022, pp.470-474
2022
2022Epilepsinin Nadir, Nonkonvulzif Status Epileptikusun Nadir Olmayan Bir Sebebi: Ring 20 Kromozomu
Gezegen H., İlgezdi Kaya İ., Kalaycı T., Şirin İnan N. G., Karaman B., Bebek N., et al.
58. ulusal Nöroloji Kongresi, İstanbul, Turkey, 19 - 24 November 2022, pp.650
2022
2022Kardiyak Anomalili Fetuslarda Konvansiyonel Genetik Tanı Testlerinin Etkinliği
Şentürk H., Özsait Selçuk B. Ş., Saraç Sivrikoz T., Kalelioğlu İ. H., Has R., Karaman B., et al.
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.26
2022
2022Fetal Dönemde Kontraktürler Ile Seyreden Fenotiplerin Moleküler Tanısında Tüm Ekzom Dizileme Analizinin Katkısı
Turgut G. T., Altunoğlu U., Güleç Ç., Kalaycı T., Saraç Sivrikoz T., Toksoy G., et al.
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.85
2022
2022Prenatal Diagnosis Of 1P36 Deletion Syndrome Due To Pericentric Inversion On Chromosome 1: A Case Report
Yıldırım B. T., Kalaycı T., Bulut G., Saraç Sivrikoz T., Özsait Selçuk B. Ş., Başaran S., et al.
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.25
2022
2022Gebelik Haftasına Göre Küçük Doğan (Sga) Çocuklarda Sebat Eden Boy Kısalığının Etiyolojisinin Genetik Analizler Ile Değerlendirilmesi
Karaman V., Aslanger A. D., Konur E. N., Öztürk A. P., Toksoy G., Özsait Selçuk B. Ş., et al.
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.189
2022
2022Birden Fazla Etkilenmiş Olgu Bulunan Ailelerde Tüm Ekzom Dizileme Yönteminin Tanıdaki Etkinliği
Bulut G., Toksoy G., Altunoğlu U., Turgut G. T., Uyguner Z. O., Başaran S., et al.
15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.116
2022
2022SENDROMİK BÜYÜME GELİŞME GERİLİĞİNİN NADİR BİR NEDENİ: 1q21.1 DUPLİKASYON SENDROMU
ASLANGER A. D., ÖZTÜRK A. P., BAŞ F., KARAMAN B.
ÇOCUK ENDOKRİNOLOJİSİ OLGU SUNUMLARI -11-, Turkey, 13 May 2022, pp.67
2021
2021Diagnostic Utility of Whole Exome Sequencing in patients with suspected mitochondrial disease: the single center experience in Turkish population
Gedikbaşı A., Toksoy G., Karaca M., Balcı M. C., Güleç Ç., Selamioğlu A., et al.
International Congress on Inborn Errors in Metabolism (ICIEM), Sydney, Australia, 19 - 24 November 2021, pp.1-3
2021
2021Türkiye’deki olgu örneklerinde SARS-CoV-2 enfeksiyonunda rol alan aday immünite gen varyantlarının incelenmesi ve popülasyonlar arasında karşılaştırılması
Karacan A., Toksoy G., Uyguner Z. O., Başaran S., Karaman B., Bayrak A. E.
XVII. Tıbbi Biyoloji ve Genetik Kongresi, İstanbul, Turkey, 28 - 31 October 2021, pp.166-167
2021
2021Evaluation of early puberty in boys and girls with Silver-Russell Syndrome: Discordance between testicular growth and pituitary-gonadal hormones in male cases
YILDIZ M., BAŞ F., KARAMAN B., POYRAZOĞLU Ş., BAŞARAN S., DARENDELİLER F. F.
59th ESPE 2021 Meeting, Turkey, 22 September 2021
2021
2021A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Berkay E., KARAMAN B., TOKSOY G., SELÇUK B. Ş., UYGUNER Z. O., BAŞARAN S.
ESHG KONGRESİ, England, 6 - 09 June 2021, pp.155-156
2020
2020Nadir Hastalıkların Tanı ve Takibinde Biyokimyasal Testlerin Tamamlayıcı Rolü: Olgu Sunumu
Gedikbaşı A., Toksoy G., Kalaycı T., Gelmez M. Y., Karaman B., Deniz G., et al.
Uluslararası Laboratuvar Tıbbı ve XX.Ulusal Klinik Biyokimya Kongresi, İstanbul, Turkey, 25 - 26 December 2020, pp.1
2020
2020MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları
KALAYCI T., ASLANGER A. D., ALTUNOĞLU U., TOKSOY G., KONUR E. N., AVCI Ş., et al.
14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", çevrimiçi, Turkey, 20 - 22 November 2020, vol.31, no.4, pp.53
2020
2020Mitokondriyal Hastalıklara Bütünsel Yaklaşım: Beş Aile Örneği
GEDİKBAŞI A., TOKSOY G., KARACA M., BALCI M. C., GÜLEÇ Ç., GÜNEŞ S., et al.
14. ULUSAL TIBBİ GENETİK KONGRESİ, ONLINE, Turkey, 20 - 22 November 2020, vol.31, pp.45
2020
2020A case report of a rare nonsense ZP1 variant in a patientwith oocyte maturation defect
Berkay E., KARAMAN B., TOKSOY G., SELÇUK B. Ş., UYGUNER Z. O., BAŞARAN S.
European Human Genetics Conference 2020, GLASKOW, İSKOÇYA, 6 - 09 June 2020, vol.28, pp.155-156
2020
2020A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Berkay E. G., Karaman B., Toksoy G., Selçuk B. Ş., Uyguner Z. O., Başaran S.
ESHG KONGRE, London, United Kingdom, 6 - 09 June 2020, pp.155-156
2020
2020Silver-Russell Sendromu tanılı kız ve erkek olgularımızda erkence pubertenin değerlendirilmesi ve erkek olgularda testis büyümesi ile hipofizer-gonadal hormonlar arasında uyumsuzluk
Yıldız M., Baş F., Karaman B., Poyrazoğlu Ş., Başaran S., Darendeliler F. F.
XXIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Ankara, Turkey, 30 October - 01 November 2020, pp.102
2020
2020Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters
BERKAY E. G., KARAMAN B., TOKSOY G., ÖZSAİT SELÇUK B., UYGUNER Z. O., BAŞARAN S.
ESHG 2020, 6 - 08 June 2020
2020
2020A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
BAŞARAN S., UYGUNER Z. O., KARAMAN B., Toksoy G., Berkay E. G., SELÇUK B. Ş.
European Human Genetics Virtual Conference, England, 6 - 09 June 2020
2020
2020A case report of a rare nonsense ZP1 variant in a patient with oocytematuration defect
berkay e. g., KARAMAN B., TOKSOY G., SELÇUK B. Ş., UYGUNER Z. O., BAŞARAN S.
ESHG 2020, Austria, 6 - 09 June 2020
2020
2020Örnek olgularla array uygulamalarında karşılaşılan sorunlar ve çözüm önerileri
Karaman B.
V. Uluslararası Katılımlı Erciyes Tıp Genetik günleri, Kayseri, Turkey, 20 - 22 February 2020, pp.22
2020
2020A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Berkay E. G., Karaman B., Toksoy G., Selçuk B. Ş., Uyguner Z. O., Başaran S.
European Human Genetics Virtual Conference (ESHG 2020.2), Vienna, Austria, 6 - 09 June 2020
2020
2020Olgu örnekleri ile kromozom hastalıklarında tanı yöntemleri
Karaman B.
Uluslararası Katılımlı, 8. Çocuk Dostları Kongresi, İstanbul, Turkey, 12 - 14 March 2020, pp.32
2019
2019Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience
Çilsaat G., Toksoy G., Baş F., Karaman B., Poyrazoğlu Ş., Uyguner Z., et al.
58 th Annual Meeting European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, 20 - 22 September 2019, vol.1, no.1, pp.282
2019
2019Novel variants in <i>DHH</i> gene identified with 46,XY gonadal dysgenesis
Aghayev A., Toksoy G., Poyrazoglu Ş., Karaman B., Avci S., Abali Z. Y., et al.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, pp.1250-1251
2019
2019Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development
Poyrazoğlu Ş., TOKSOY G., Aghayev A., KARAMAN B., Şahin A., ALTUNOĞLU U., et al.
European Society for Paediatric Endocrinology (ESPE), Basel, Switzerland, 20 - 22 September 2019, pp.193
2019
2019Genetic Evaluation of Idiopathic Short Stature
KARAMAN B., BAŞ F., Najaflı A., Avcı Ş., Kardelen A. D., Toksoy G., et al.
European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, 6 - 08 September 2019
2019
2019Boy Kısalığının Genetik Etiyolojisinin Araştırılması
KARAMAN B., BAŞ F., NAJAFLI A., AVCI Ş., KARDELEN AL A. D., TOKSOY G., et al.
XXIII Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 17 - 21 April 2019
2019
201946,XY Cinsiyet Gelişim Bozukluğu Hastalarının Genetik Etyolojisinin Değerlendirilmesi
POYRAZOĞLU Ş., AGHAYEV A., TOKSOY G., KARAMAN B., AVCI Ş., ALTUNOĞLU U., et al.
XXIII. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Turkey, 17 April 2019
2018
2018PROKR2 Mutations in Patients with Growth Hormone Deficiency andMultiple Pituitary Hormone Deficiency
Najaflı A., BAŞ F., KARAMAN B., UYGUNER Z. O., BAŞARAN S., POYRAZOĞLU Ş., et al.
57. ESPE 2018, 27 - 29 September 2018
2018
2018Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience
AGHAYEV A., TOKSOY G., POYRAZOĞLU Ş., KARAMAN B., AVCI Ş., YILDIZ M., et al.
57th ESPE 2018 Meeting, Atina, Greece, 27 September 2018
2018
2018Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations
POYRAZOĞLU Ş., KARAMAN B., BAŞ F., Darendeliler F., TOKSOY G., BAŞARAN S., et al.
57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, pp.558
2018
2018Evaluation of Genetic Etiology in Patientswith 46,XY Disorders of SexDevelopment:One Center Experience
aghayev a., BAŞ F., KARAMAN B., UYGUNER Z. O., BAŞARAN S., POYRAZOĞLU Ş., et al.
57. ESPE 2018, 27 - 29 September 2018
2018
2018Clinical, Laboratory and Molecular Genetic Findings of Patients with 17ß-Hydroxysteroid Dehydrogenase 3 Deficiency
Poyrazoğlu Ş., Toksoy G., Aghayev A., KARAMAN B., Şahin A., Altunoğlu U., et al.
. 57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, pp.560
2018
2018Copy-Number Variations of the Human Olfactory Receptor Gene Familyin Patients with Macromastia and Prepubertal Gynecomastia
BAŞ F., KARAMAN B., UYGUNER Z. O., BAŞARAN S., POYRAZOĞLU Ş., DARENDELİLER F. F., et al.
57. ESPE 2018, 27 - 29 September 2018
2018
2018Clinical findings and genetic analysis of patients with macromastia and prepubertal gynecomastia
DARENDELİLER F. F., BAŞ F., KARAMAN B., POYRAZOĞLU Ş., KARDELEN A., TOKSOY G., et al.
ENDO 2018, 23 - 26 March 2018
2018
2018Molecular Genetic diagnostıc efficiency of targeted next generation sequencing on “disorders of sex development”.
TOKSOY G., AGHAYEV A., POYRAZOĞLU Ş., AVCI Ş., KARAMAN B., YAVAŞ ABALI Z., et al.
ERCIYES MEDİCAL GENETICS DAYS, Turkey, 7 - 10 March 2018, no.1
2018
2018idic(Y)(q11.2) ABNORMALITY IN CASES WITH MIXT GONADAL DYSGENESIS AND INFERTILITY
Kaya M., Suer İ., Kalaycı T., Karaman B., Dön B., Bağatır Ozan G., et al.
Erciyes Medical Genetics Days, Kayseri, Turkey, 7 - 10 March 2018, pp.16
2018
2018CONRADI-HUNERMANN SYNDROME IN A MALE AND FEMALE CASE WITH TWO NOVEL EBP MUTATIONS
ŞENTÜRK L., Altunoğlu U., Avcı Ş., UYGUNER Z. O., KARAMAN B., BAŞARAN S.
ERCIYES MEDICAL GENETİCS DAYS, Turkey, 7 - 10 March 2018, vol.39, pp.58
2018
2018A Novel Insertional Translocation in a Patient with Infertility and Undiagnosed Mild Intellectual Disability
Suer İ., Kaya M., Bagatır Ozan G., Karaman B., Çefle K., Öztürk Ş., et al.
Erciyes Medical Genetics Days, Kayseri, Turkey, 7 - 10 March 2018, pp.32
2017
2017The Application of array CGH for Monogenic Disorders Clinical and Molecular Cytogenetic Characterizations of Twenty Patients
KARAMAN B., BAŞARAN S., UYGUNER Z. O.
11th European Cytogenetics Conference 2017, 4 - 07 July 2017
2017
2017The Application of array CGH for Monogenic Disorders; Clinical and Molecular Cytogenetic Characterization of Twenty Patients.
KARAMAN B., NAJAFLı A., Toksoy G., KAYSERİLİ KARABEY H., BAŞARAN S.
European Cytogenetic Conference, Floransa, Italy, 29 June - 02 July 2017, pp.8
2017
201732 novel pathogenic sequence variants in 253 DMD/BMD patients from Turkey
toksoy g., KARAMAN B., UYGUNER Z. O., BAŞARAN S.
ESHG Congress, 27 - 30 May 2017
2014
2014Homozygous SHOX gene deletion detected by array CGH in a girl with langer mesomelic dysplasia
Karaman B., Satkın N., Altunoğlu U., Toksoy G., Kayserili Karabay H., Uyguner Z. O., et al.
European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.404
2014
2014Molecular Diagnostic Algorithm of Syndromic Craniosynostosis
Karaman V., Toksoy G., Avcı Ş., Karaman B., Altunoğlu U., Başaran S., et al.
European Human Genetics. Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.215
2013
2013Molecular Test Results of Syndromic Craniosynostosis Patients: genotype-phenotype correlations
Karaman V., Altunoğlu U., Toksoy G., Karaman B., Kayserili Karabay H.
European Human Genetics Conference 2013, Paris, France, 8 - 11 June 2013, vol.21, no.1, pp.99
2013
2013Familial Microdeletion of 3 Mb at 22q11.2 With Unusual Phenotype
Toksoy G., Satkın B. N., KAYSERİLİ H., KARAMAN B., BAŞARAN S.
European Cytogenetic Conference, Ireland, 1 - 04 June 2013, pp.69
2013
2013Molecular Test Results of Syndromic Craniosynostosis Patients:genotype-phenotype correlations
Karaman V., Altunoğlu U., Toksoy G., KARAMAN B., KAYSERİLİ H., UYGUNER Z. O.
European Human Genetic Congress, France, 1 - 04 June 2013, pp.99
0
0Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases
KARAMAN B., Satkın B. N., KAYSERİLİ H., BAŞARAN S.
European Cytogenetic Conference, Ireland, pp.122
2012
2012Indications for Fetal Karyotyping and Ultrasonographic Findings in Common Trisomies; Alterations in over 2 Decades
Başaran S., Karaman B., Aytan M., Toksoy G., Kalelioğlu İ. H., Has R., et al.
European Human Genetics Congress 2012, Nuremberg, Germany, 23 - 26 June 2012, pp.147-148
2012
2012The Efficiency Of Multiplex Ligation-Dependent Probe AmplificationTechnique In The Diagnosis Of Fetal Chromosomal Abnormalities
Toksoy G., Karaman B., Uyguner Z. O., Yılmaz K., Has R., Kayserili H., et al.
European Human Genetics Conference 2012, Nuremberg, Germany, 23 - 26 June 2012, pp.150
0
0Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally
KARAMAN B., Satkın B. N., Kalelioğlu İ. H., HAS R., KAYSERİLİ H., Ermiş H., et al.
European Human Genetic Congress, Germany, pp.148-149
0
0Step by Step, Formation of Complex Chromosomal Rearrangements
Satkın B. N., KARAMAN B., Yılmaz K., Altunoğlu U., BAŞARAN S.
European Human Genetic Congress, Germany, pp.110
0
0Array-CGH results in fetuses with central nervous system
Ergin S., KARAMAN B., Satkın B. N., Kalelioğlu İ. H., KAYSERİLİ H., YÜKSEL A., et al.
European Human Genetic Congress, Germany, pp.144
2010
2010MKA/MR ETYOLOJİSİNDE KROMOZOM ANOMALİLERİ
KARAMAN B.
Tıbbi Genetik Kongresi, İstanbul, Turkey, 1 - 04 December 2010, pp.5-6
2010
2010Kromozom Anomalilerinin Sınıflandırılması, Oluşum Mekanizmaları ve Sıklıkl
KARAMAN B.
Tıbbi Genetik Kongresi, İstanbul, Turkey, 1 - 04 December 2010, pp.7-8
0
0CLINICAL AND ULTRASONOGRAPHIC FINDINGS OF FETUSES WITH TRISOMY 21, 18 AND 13 CASES DIAGNOSED PRENATALLY IN AMNIOTIC FLUID SAMPLES. FROM JANUARY 1989 TO JULY 2010, 142 TRISOMY 21, 39 TRISOMY 18, 12 TRISOMY 13 CASES WERE DIAGNOSED IN AMNIOTIC FLUID SAMPLES
Satkın B. N., Kalelioğlu İ. H., KARAMAN B., HAS R., KAYSERİLİ H., Aydınlı K., et al.
Tıbbi Genetik Kongresi, İstanbul, Turkey, pp.104-105
2010
2010How toapproach lissencephaly/subcortical band heterotopia spectrum.
Aslanger A. D., Toksoy G., Kayserili Karabey H., Karaman B., Başaran S., Uyguner Z. O.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, vol.78, pp.13
2010
2010A novel molecular and functional mechanism predisposing to ototoxicity
Pohl E., Offenhauser N., Kersten F., Üzümcü A., Yun L., KAYSERİLİ H., et al.
European Human Genetic Congress, Germany, 1 - 04 May 2010, pp.5
2009
2009Variant philadelphia translocations in patients with chronic myeloid leukemia
Satkın B. N., PALANDUZ Ş., KARAMAN B., ÖZTÜRK Ş., ÇEFLE K., Bagatır G., et al.
European Cytogenetic Conference (7th), Stockholm, Sweden, 4 - 07 July 2009, pp.161-162
0
0Girl with left hemiatrophy reveals confined mosaicisms for r(13)in fibroblasts
Altunoğlu U., KARAMAN B., BAŞARAN S., KAYSERİLİ H.
European Human Genetic Congress, Austria, pp.125
2008
2008Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation
Güven Z. G., Kayserili Karabay H., Üzümcü A., Eriş H., Karaman B., Başaran S., et al.
EUROPEAN HUMAN GENETICS CONFERENCE 2008, Barcelona, Spain, 31 May - 03 June 2008, vol.16, pp.271
2008
2008Otozomal resesif non-sendromik mental retardasyon olgularında CYFIP1 ve CYFIP2 genlerinin incelenmesi
Güven Z. G., Kayserili Karabay H., Üzümcü A., Eriş H., Yılmaz K., Karaman B., et al.
8. Ulusal Tıbbi Genetik Kongresi, Çanakkale, Turkey, 6 - 09 May 2008, pp.1
2008
2008Moebius sendromu ile 13q11.2-q13.3 kromozomal bölgesi ilişkisinin delesyon haritalaması yöntemi ile incelenmesi
Üzümcü A., Toksoy G., Candan Ş., Uyguner Z. O., Karaman B., Eriş H., et al.
8. uluslararası katılımlı Ulusal Genetik Kongresi, 2008, Çanakkale, Turkey, 6 - 09 May 2008, vol.1, no.1, pp.198
0
0Investigation of CYFIP1 and CYFIP2 genes in patients with autosomal recessive non-syndromic mental retardation
Güven G., KAYSERİLİ H., Üzümcü A., Eriş H., KARAMAN B., BAŞARAN S., et al.
European Human Genetics, Spain, pp.271
0
0Dicentric chromosome 22 causing partial trisomy of 22q10Yq13 in a child with Cat Eye syndrome phenotype
Demir Z., KARAMAN B., KAYSERİLİ H., Yüksel Apak M., BAŞARAN S.
European Cytogenetic Conference, Turkey, pp.61
0
0The possible failure rate in diagnosing major chromosomal abnormalities with an Attempt to complete shift to QF-PCR in prenatal diagnosis
Kalelioğlu İ. H., KARAMAN B., BAŞARAN S., YÜKSEL A., HAS R., İbrahimoğlu L., et al.
European Cytogenetic Conference, Turkey, pp.254
2007
2007Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method
Semerci C. N., Tufan Şatıroğlu L., Bereket A., TÜYSÜZ B., Yılmaz E., KAYSERİLİ H., et al.
European Cytogenetic Conference, Turkey, 1 - 04 July 2007, pp.125
0
0A case of monosomy 8p23.3Yter and trisomy 16p13.3Yter; cytogenetic, molecular cytogenetic and clinical findings
Candan Ş., KARAMAN B., KAYSERİLİ H., Kırmızı N., BAŞARAN S.
European Cytogenetic Conference, Turkey, pp.96
2007
2007The proportion of various types of chromosome anomalies detected in amniotic fluid samples; The results of a series with 17655 cases
Basaran B., Toksoy G., Karaman B., Aytan M., Engur A., Kalelioglu H. I., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.254-255
2007
2007Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method
Semerci C. N., Satiroglu-Tufan N. L., Turan S., Bereket A., Tuysuz B., Yilmaz E., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.125-126
2007
2007A de novo complex chromosome rearrangement with the breakpoints 8q24.13
Rosti R., Karaman B., Kayserili H., Kirmizi N., Basaran S.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.85
2007
2007A case of monosomy 8p23.3 -> ter and trisomy 16p13.3 -> ter; cytogenetic, molecular cytogenetic and clinical findings
Candan S., Karaman B., Kayserili H., Kirmizi N., Basaran S.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.96
2007
2007De novo monosomy of 22pter-> q13 caused by an unusual unbalanced translocation
Altunoglu A., Karaman B., Kayserili H., Yilmaz K., Basaran S.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.95-96
2007
2007Identification of parental origins and delineation of structural abnormalities involving chromosome 9
Uzumcu A., Ghanbari A., Karaman B., Uyguner Z. O., Kayserili H., Wollnik B., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.261
2007
2007Two siblings with 5p deletion syndrome of genotypically normal parents: gonadal mosaicism?
Tuysuz E. O., Yilmaz E., Karaman B., Yanar U.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.106-107
2005
2005Fetal kromozom analizlerinde saptanan marker kromozomlar
Karaman B., Aytan M., Yılmaz K., Toksoy G., Önal E. P., Kayserili Karabay H., et al.
Fetal Tıp Prenatal Tanı Kongresi Maternal Fetal Tıp ve Perinatoloji Derneği Fetal tıp Prenatal Çalışma Grubu, Fetal Tıp Prenatal Tanı 2005 Kongresi , Antalya, Turkey, 30 April - 02 May 2005, vol.1, no.1, pp.109
2002
2002“Fetal Karyotip analizinde saptanan marker kromozomların aydınlatılması: 20 olgunluk seri sonuçları”
Karaman B., Ghanbari A., Engür A., Aytan M., Yılmaz K., Toksoy G., et al.
V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 2002 , Konya, Turkey, 9 - 12 October 2002, vol.1, no.1, pp.3
2002
2002A new case of mosaic supernumerary ring chromosome 8 syndrome
Yilmaz S., Deviren A., Kuru D., Tarkan-Arguden Y., Karaman B., Yuksel A., et al.
European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, France, 25 - 28 May 2002, vol.10, pp.148
1999
1999Identification of de novo structural chromosome abnormalities using “Chromoprobe Multiprobe” slide technique,”
Toksoy G., Aytan M., Kılıç G., Karaman B., Başaran S., Yüksel Apak M.
Second European Cytogenetics Conference, 1999, Vienna, Austria, 3 - 09 June 1999, vol.1, no.1, pp.159
1998
1998De Novo Kromozom Anomalilerinin Tanısında Yeni Bir Sistem “Chromoprobe Multiprobe”
Kılıç G., Karaman B., Başaran S., Toksoy G., Hacıhanefioğlu S., Yüksel Apak M.
3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 1998, Muğla, Turkey, 26 - 30 April 1998, vol.1, no.1, pp.116
1996
1996İncebarsak tümörlerinin radyolojik tanısı: Enteroklizis yöntemiyle çift kontrast inceleme
KORMAN M. U., KURUĞOĞLU S., AKMAN C., KARAMAN B., Çokyüksel A. O.
XV.Ulusal Radyoloji Kongresi, Nevşehir, Turkey, 6 - 10 October 1996, pp.1
1994
1994Kistik higroma prenatal tanısındaki deneyimlerimiz
YÜKSEL A., KARAMAN B.
IV. Ulusal Perinatoloji Kongresi, İstanbul, Turkey, 26 - 30 April 1994, pp.1
Books & Book Chapters
2024
2024KRONİK HASTALIĞI OLAN ÇOCUKTA GENETİK DANIŞMANLIK
Karaman B., Gedikbaşı A.
in: Kronik hastalığı olan çocuğun izlemi ve toplumda bakım, Gülbin Gökçay,Gonca Keskindemirci, Editor, Istanbul University Press, İstanbul, pp.715-733, 2024
2023
2023Sitogenetik yöntemler Kromozom analiz yöntemleri
Karaman B.
in: PEDİATRİ PRATİĞİNDE GENETİK TESTLERİN SEÇİMİ VE YORUMLANMASI, Beyhan Tüysüz, Editor, Nobel Tıp Kitapevi, Ankara, pp.1-15, 2023
2023
2023Moleküler sitogenetik yöntemler
Karaman B.
in: PEDİATRİ PRATİĞNDE GENETİK TESTLERİN SEÇİMİ VE YORUMLANMASI, Beyhan Tüysüz, Editor, Nobel Tıp Kitapevi, Ankara, pp.16-30, 2023
2023
2023Genetik Yapı ve Sık Görülen Genetik Hastalıklar
Başaran S., Karaman B.
in: Perinatoloji, Prof. Dr. Cenk Sayın,Doç. Dr. Cihan İnan, Editor, Nobel Tıp Kitapevi, İstanbul, pp.457-471, 2023
2023
2023Array Tabanlı Karşılaştırmalı Genomik Hibridizasyon (A-CGH)
KARAMAN B., ÖZSAİT SELÇUK B. Ş.
in: Pediatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Beyhan Tüysüz, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.68-74, 2023
2022
2022SITOGENETIK, a-CGH ve FISH
Karaman B., Özsait Selçuk B. Ş.
in: KLİNİSYENLER İÇİN GENETİK TESTLER, Şükrü Öztürk,Kıvanç Çefle, Editor, EMA TIP KİTABEVİ YAYINCILIK Tic. Ltd. Şti., İstanbul, pp.23-48, 2022
2022
2022Pallister-Killian Sendromu
Karaman B.
in: Genetik ve Dismorfoloji- "Balcı Sendromu", Cavidan Nur Semerci, Editor, Nazım Kitaplığı (NK Yayınları), Ankara, pp.57-61, 2022
2020
2020COVID-19 Salgınında Anjiyotensin Dönüştürücü Enzim 2 Reseptörü Gen Varyantlarının Önemi
Bayrak A. E., Toksoy G., Uyguner Z. O., Karaman B., Başaran S.
in: COVID-19: Moleküler ve Klinik Yaklaşım, Bedia Çakmakoğlu,Sema Sırma Ekmekçi,Umut Can Küçüksezer,Vuslat Yılmaz,Günnur Deniz, Editor, Istanbul University, İstanbul, pp.66-76, 2020
2020
2020Türk Bireylerde Tanımlanan ACE2, TMPRSS2, CTSB ve CTSL Gen Varyantlarının Populasyonlar Arası Karşılaştırmalı Analizi
Bayrak A. E., Toksoy G., Uyguner Z. O., Karaman B., Başaran S.
in: COVID-19: Moleküler ve Klı̇nik Yaklaşım, Bedia Çakmakoğlu,Sema Sırma Ekmekçi,Umut Can Küçüksezer,Vuslat Yılmaz,Günnur Deniz, Editor, Istanbul University, İstanbul, pp.67-76, 2020
2020
2020Kromozomlar ve Hastalıkları
Yüksel Apak M., Karaman B.
in: Pediyatri, Feyza Darendeliler,Olcay Neyzi,Türkan Ertuğrul, Editor, Nobel Yayın Dağıtım, İstanbul, pp.147-159, 2020
2020
2020Türk Bireylerde Tanımlanan ACE2, TMPRSS2, CTSB ve CTSL GenVaryantlarının Populasyonlar Arası Karşılaştırmalı Analizi
KÖMÜRCÜ BAYRAK E., TOKSOY G., UYGUNER Z. O., KARAMAN B., BAŞARAN S.
in: COVID-19: MOLEKÜLER VE KLİNİK YAKLAŞIM, Prof. Dr. Bedia ÇAKMAKOĞLU, Prof. Dr. Sema SIRMA EKMEKÇİ, Doç. Dr. Umut Can KÜÇÜKSEZER, Doç. Dr. Vuslat YILMAZ, Prof. Dr. Günnur DENİZ, Editor, Istanbul University Press, İstanbul, pp.67-76, 2020
2014
2014Tıbbi Genetik
KAYSERİLİ H., BAŞARAN S., KARAMAN B., UYGUNER Z. O.
in: Pediatride Rutinler, ömer devecioğlu, Editor, İstanbul Tıp Kitabevi, İstanbul, pp.300-305, 2014
2012
2012Konjenital Adrenal Hiperplazi; Moleküler Tanı, Fenotip/Genotip Korelasyonu ve Antenatal İzlem Deneyimlerimiz (1990-2009).
Kayserili H., Uyguner Z. O., Karaman B., Başaran S.
in: Endokrinoloji Diyabet Yıllığı, Yarman S,Alagöl F., Editor, İstanbul Tıp Fakültesi, İstanbul, pp.103-113, 2012
Other Publications
Supported Projects
2024 - 2026
2024 - 2026Non-Sendromik Kraniyosinostoz vakalarında genetik etiyolojinin araştırılması
Project Supported by Higher Education Institutions
(Project Abstract)
Karaman V. (Executive), Aslanger A. D., Toksoy G., Maraş Genç H., Dölen D., Karaman B., et al.
2023 - 2025
2023 - 2025Fetal Kardiyak Anomalilerin Genetik Etiyolojisinin Yeni Nesil Dizileme Yöntemi İle Araştırılması
Research Project of the Presidency of Turkey Health Institutes (TÜSEB)
Şentürk H.(Executive), Bayrak A. E., Karaman B., Toksoy G., Kalaycı T., Selçuk B. Ş., et al.
2023 - 2024
2023 - 2024Konjenital Böbrek ve Üriner Sistem Anomalilerinde Genetik Etiyolojinin Araştırılması
Project Supported by Higher Education Institutions
(Project Abstract)
Aslanger A. D., Durmaz D., Karaman B.
2023 - 2024
2023 - 2024Fetal Ultrasonografide Anomali Saptanan Gebeliklerde Ailelerin İnvaziv Tanı ve Sonuçlarına Yaklaşımları
Project Supported by Higher Education Institutions
(Project Abstract)
Karaman B. (Executive), Erdoğdu M.
2022 - 2023
2022 - 2023Büyümede Yakalama Yapamayan Gestasyon Yaşına Göre Düşük Doğum Ağırlıklı (SGA) Çocuklarda Boy Kısalığı Etiyolojisinin Araştırılması
Project Supported by Higher Education Institutions
ASLANGER A. D., KARAMAN V., TOKSOY G., YEŞİL SAYIN G., KARAMAN B., ÖZTÜRK A. P., et al.
2021 - 2023
2021 - 2023Array CGH Çalışmasında Saptanan Kopya Sayısı Değişimlerinin Sınıflandırılması
Project Supported by Higher Education Institutions
(Project Abstract)
Karaman B., Özsait Selçuk B. Ş., Çerçi A. S.
2021 - 2023
2021 - 2023Array CGH Çalışmasında Saptanan Kopya Sayısı Değişimlerinin Sınıflandırılması
Project Supported by Higher Education Institutions
Karaman B. (Executive), Çerçi A. S.
2018 - 2021
2018 - 2021Sebebi Açıklanamayan İnfertilite ile İlişkili Genlerin Araştırılması
Project Supported by Higher Education Institutions
BERKAY E. G., KARAMAN B., UYGUNER Z. O., KALAYCI T.
2018 - 2021
2018 - 2021Benzer klinik bulgular gösteren birden fazla etkilenmiş olgu bulunan ailelerde genetik etiyolojinin tüm ekzom dizileme yöntemi ile araştırılması
Project Supported by Higher Education Institutions
KARAMAN B. (Executive), BULUT G.
2017 - 2018
2017 - 2018Boy Kısalığının Genetik Etiyolojisinin Araştırılması
Project Supported by Higher Education Institutions
KARAMAN B. (Executive), TOKSOY G., NAJAFLI A.
2017 - 2017
2017 - 2017The Application of array CGH for Monogenic Disorders Clinical and Molecular Cytogenetic Characterizations of Twenty Patients
Project Supported by Higher Education Institutions
KARAMAN B. (Executive), BAŞARAN S., UYGUNER Z. O., ALTUNOĞLU U., AVCI Ş., TOKSOY G., et al.
2017 - 2017
2017 - 201732 novel pathogenic sequence variants in 253 DMD/BMD patients from Turkey
Project Supported by Higher Education Institutions
TOKSOY G. (Executive), BAGİROVA G., ALTUNOĞLU U., PARMAN F. Y., UYGUNER Z. O., OFLAZER Z. P., et al.
2016 - 2017
2016 - 2017PREPÜBERTAL JİNEKOMASTİ VE MAKROMASTİ TANILI VAKALARDA KLİNİK BULGULAR VE GENETİK ÇALIŞMA
Project Supported by Higher Education Institutions
TOKSOY G., UYGUNER Z. O., KARAMAN B., POYRAZOĞLU Ş., BAŞARAN S.
2015 - 2017
2015 - 2017LİPOİD PROTEİNOZİS OLGULARINDA GENOTİP FENOTİP İLİŞKİSİNİN ARAŞTIRILMASI
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2015 - 2016
2015 - 2016Array-CGH analizlerinde saptanan de novo değişimlerin konfirmasyonunda kullanılan tekniklerin standardizasyonu
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2013 - 2016
2013 - 2016Prematür Ovaryan Yetmezliğinde Genetik Etiyoloji
Project Supported by Higher Education Institutions
ORAL E. (Executive), KARAMAN B., BAŞARAN S., UYGUNER Z. O., TOKSOY G., SOFIYEVA N.
2013 - 2016
2013 - 2016Dengesiz genomik yeniden düzenlenmelerin tanısında SNP mikro-array teknolojisinin katkıları
Project Supported by Higher Education Institutions
KARAMAN B. (Executive), UYGUNER Z. O., PALANDUZ Ş., TÜYSÜZ B., BAŞARAN S., ÇEFLE K.
2012 - 2016
2012 - 2016Kraniofasiyal Malformasyonlara Klinik ve Genetik Yaklaşım II
FP1 Project
Kayserili Karabay H., Toksoy G., Uyguner Z. O., Karaman B.
2014 - 2014
2014 - 2014Sendromik Kraniyosinostosta Moleküler tanı algoritması
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2013 - 2013
2013 - 2013Fenotipik olarak etkilenmiş görünürde dengeli de novo kromozom anomalisi taşıyan 20 olgunun a- CGH sonuçları
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2011 - 2013
2011 - 2013CRANIRARE, (Kraniyofasiyal malformasyonlara klinik ve genetik yaklaşım)
FP1 Project
Karaman B.
2012 - 2012
2012 - 2012FETAL MERKEZİ SİNİR SİSTEMİ ANOMALİLERİNDE SUBMİKROSKOBİK KROMOZOM ANOMALİLERİNİN MOLEKÜLER TEKNİKLERLE ARAŞTIRILMASI
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2012 - 2012
2012 - 2012Prenatal Tanıda Holoprozensefali Tanısı alan 87 Olgunun Kromozomal anomali sonuçları
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2011 - 2012
2011 - 2012FETAL MERKEZİ SİNİR SİSTEMİ ANOMALİLERİNDE SUBMİKROSKOBİK KROMOZOM ANOMALİLERİNİN MOLEKÜLER TEKNİKLERLE ARAŞTIRILMASI
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2008 - 2011
2008 - 2011Multiple Patolojik Ultrason Bulgusu Saptanan Fetuslarda Kromozomların Subtelomerik Bölgelerinin Multiprobe Telomer Sistem ve MLPA Yöntemleri ile Karşılaştırmalı Olarak Araştırılması
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2009 - 2009
2009 - 2009Prenatal Tanıda Saptanan Wolf Hirschorn Sendromlu 5 Olgu Sunumu
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2008 - 2009
2008 - 2009Angelman Sendromunda Genotip Fenotip İlişkisi
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2006 - 2009
2006 - 2009Kalıtsal mental retardasyonda moleküler analizler: bağlantı analizi ve aday gen taramaları
TUBITAK Project
Uyguner Z. O. (Executive), Karaman B.
2008 - 2008
2008 - 2008Otozomal resesif non sendromik mental retardasyon olgularında CYFIP1 ve CYFIP2 genlerinin incelenmesi
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
2007 - 2008
2007 - 200845,X Karyotipi saptanan olgularda Y kromozom varlığının araştırılması
Project Supported by Higher Education Institutions
KARAMAN B. (Executive)
Activities in Scientific Journals
2022 - Continues
2022 - ContinuesFRONTIERS IN PEDIATRICS
Editor
2021 - Continues
2021 - ContinuesJournal of Istanbul Faculty of Medicine-İstanbul Tıp Fakültesi Dergisi
First Editor
2020 - Continues
2020 - Continuesİstanbul Tıp Fakültesi Dergisi
First Editor
2015 - Continues
2015 - Continuesİstanbul Tıp Fakültesi Dergisi
Assistant Editor/Section Editor
Memberships / Tasks in Scientific Organizations
2011 - Continues
2011 - Continuesİstanbul Tıp Fakültesi Mezun ve Mensuplar derneği
Member
1997 - Continues
1997 - ContinuesEuropean cytogenetic assaciation
Member
1995 - Continues
1995 - ContinuesTürkiye Tıbbi Genetik Derneği
Member
1990 - Continues
1990 - ContinuesEuropean Human Genetic Association
Member
Scientific Refereeing
September 2023
September 2023CHINESE MEDICAL SCIENCES JOURNAL
Journal Indexed in SCI-E
August 2023
August 2023FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
July 2023
July 2023PROCEEDINGS (MDPI)
Journal Indexed in SCI-E
May 2023
May 2023FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
March 2023
March 2023FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
February 2023
February 2023FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
January 2023
January 2023CHINESE MEDICAL SCIENCES JOURNAL
Journal Indexed in SCI-E
December 2022
December 2022FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
December 2022
December 2022FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
December 2022
December 2022FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
October 2022
October 2022FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
October 2022
October 2022FRONTIERS IN PEDIATRICS
Journal Indexed in SCI-E
August 2022
August 2022JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
Journal Indexed in SCI-E
December 2021
December 2021BMC PREGNANCY AND CHILDBIRTH
Journal Indexed in SCI-E
December 2021
December 2021Türkiye Klinikleri Journal of Case Reports
National Scientific Refreed Journal
November 2021
November 2021BMC PREGNANCY AND CHILDBIRTH
Journal Indexed in SCI-E
October 2021
October 2021BMC PREGNANCY AND CHILDBIRTH
Journal Indexed in SCI-E
January 2021
January 2021TURKISH JOURNAL OF HEMATOLOGY
National Scientific Refreed Journal
January 2021
January 2021BMC PREGNANCY AND CHILDBIRTH
Journal Indexed in SCI-E
November 2020
November 2020TUBITAK Project
1002 - Quick Support Program, Yeditepe University, Turkey
October 2020
October 2020JOURNAL OF OBSTETRICS AND GYNAECOLOGY
SCI Journal
October 2020
October 2020TÜRKİYE KLİNİKLERİ PEDİATRİ DERGİSİ
National Scientific Refreed Journal
October 2020
October 2020Risk Management and Healthcare Policy
Journal Indexed in ESCI
August 2020
August 2020JOURNAL OF OBSTETRICS AND GYNAECOLOGY
SCI Journal
May 2020
May 2020JOURNAL OF OBSTETRICS AND GYNAECOLOGY
Journal Indexed in SCI-E
Scientific Consultations
2021 - Continues
2021 - ContinuesProject Consultancy
TÜBİTAK
Istanbul University, Instıtute of Chıld Health, Dahili Tıp Bilimleri Bölümü, Turkey
Congress and Symposium Activities
01 May 2024 - 05 May 2024
01 May 2024 - 05 May 20242-ci Beynəlxalq Azərbaycan Laborator Tibb Konqresi
Invited Speaker
Baku-Azerbaijan
21 September 2023 - 23 September 2023
21 September 2023 - 23 September 20238. Erciyes Tıp, tıbbi Genetik Kongresi
Session Moderator
Kayseri-Turkey
03 May 2023 - 05 May 2023
03 May 2023 - 05 May 20231-ci Beynəlxalq Azərbaycan Laborator Tibb Konqresi
Invited Speaker
Baku-Azerbaijan
25 April 2023 - 28 April 2023
25 April 2023 - 28 April 202345. pediatri günleri
Invited Speaker
İstanbul-Turkey
09 November 2022 - 13 November 2022
09 November 2022 - 13 November 202215. Uluslararası Tıbbi genetik Kongresi
Session Moderator
Muğla-Turkey
26 May 2022 - 28 May 2022
26 May 2022 - 28 May 20227. Uluslararası Katılımlı Erciyes Tıp Tıbbi Genetik Kongresi
Session Moderator
Kayseri-Turkey
25 November 2021 - 28 November 2021
25 November 2021 - 28 November 20211.HematOnkoGenetik Kongresi
Audience
Antalya-Turkey
19 September 2021 - 19 September 2021
19 September 2021 - 19 September 2021Fetal Tıp Sempozyumu
Attendee
İstanbul-Turkey
16 September 2021 - 18 September 2021
16 September 2021 - 18 September 20216. Uluslararası Katılımlı Erciyes Tıp Tibbi Genetik Kongresi
Session Moderator
Kayseri-Turkey
11 June 2021 - 13 June 2021
11 June 2021 - 13 June 2021Fetal Tıp ve Prenatal Tanı Kongresi
Working Group
Ankara-Turkey
01 July 2013 - 01 July 2013
01 July 2013 - 01 July 20139. European Cytogenetics Conference
Attendee
Dublin-Ireland
01 June 2012 - 01 June 2012
01 June 2012 - 01 June 2012European Human Genetics Conference
Attendee
Nürnberg-Germany
01 October 2009 - 01 October 2009
01 October 2009 - 01 October 2009Endokrin Hastalıklar ve Genetik Sempozyumu
Attendee
Bolu-Turkey
01 April 2009 - 01 April 2009
01 April 2009 - 01 April 2009IVth Dysmorphology Days “CRANIRARE Educational Contribution
Attendee
Istanbul-Turkey
01 June 2008 - 01 June 2008
01 June 2008 - 01 June 2008European Human Genetics Conference
Attendee
Barselona-Spain
01 May 2008 - 01 May 2008
01 May 2008 - 01 May 2008Uluslararası Katılımlı, 8. Ulusal Tıbbi Genetik Kongresi
Attendee
çanakkale-Turkey
01 October 2007 - 01 October 2007
01 October 2007 - 01 October 20074. Ulusal Genetik Sempozyumu
Attendee
izmir-Turkey
01 July 2007 - 01 July 2007
01 July 2007 - 01 July 20076th European Cytogenetics Conference
Attendee
Istanbul-Turkey
01 May 2006 - 01 May 2006
01 May 2006 - 01 May 2006VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi
Attendee
Kayseri-Turkey
01 July 2005 - 01 July 2005
01 July 2005 - 01 July 2005Fifth European Cytogenetics Conference
Attendee
Madrid-Spain
01 May 2005 - 01 May 2005
01 May 2005 - 01 May 2005Fetal Tıp Prenatal Tanı Kongresi
Attendee
Antalya-Turkey
01 May 2005 - 01 May 2005
01 May 2005 - 01 May 2005III. Dismorfoloji Günleri
Attendee
Istanbul-Turkey
01 May 2004 - 01 May 2004
01 May 2004 - 01 May 2004VI. Ulusal Prenatal Tanı ve Tıbbi genetik Kongresi
Attendee
Antalya-Turkey
01 July 2003 - 01 July 2003
01 July 2003 - 01 July 2003Forth European Cytogenetics Conference
Attendee
Bolonya-Italy
01 October 2002 - 01 October 2002
01 October 2002 - 01 October 2002V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi
Attendee
Konya-Turkey
01 July 2001 - 01 July 2001
01 July 2001 - 01 July 2001Third European Cytogenetics Conference
Attendee
Paris-France
01 June 2000 - 01 June 2000
01 June 2000 - 01 June 2000IV.Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi
Attendee
İzmir-Turkey
01 July 1999 - 01 July 1999
01 July 1999 - 01 July 1999Second European Cytogenetics Conference
Attendee
Viyana-Austria
01 June 1997 - 01 June 1997
01 June 1997 - 01 June 1997First European Cytogenetics Conference
Attendee
Atina-Greece
01 May 1996 - 01 May 1996
01 May 1996 - 01 May 19963. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi
Attendee
Muğla-Turkey
01 October 1995 - 01 October 1995
01 October 1995 - 01 October 1995International Down’s syndrome Meeting
Attendee
Antalya-Turkey
01 April 1995 - 01 April 1995
01 April 1995 - 01 April 1995Chromosome Segregation an Aneuploidy: An International Conference
Attendee
Sorrento-Italy
01 October 1994 - 01 October 1994
01 October 1994 - 01 October 1994Ulusal 3. Tıbbi Biyoloji Kongresi
Attendee
Antalya-Turkey
01 May 1992 - 01 May 1992
01 May 1992 - 01 May 19922. Ulusal Çocuk Sağlığı Kongresi
Attendee
Ankara-Turkey
01 May 1990 - 01 May 1990
01 May 1990 - 01 May 1990II. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi
Attendee
Istanbul-Turkey
01 October 1989 - 01 October 1989
01 October 1989 - 01 October 1989Birinci Ulusal Prenatal Teşhis ve Anadolunun genetik yapısı sempozyumu
Attendee
Eskişehir-Turkey
01 August 1988 - 01 August 1988
01 August 1988 - 01 August 1988Second Meeting of Association of Mediterranean Child Neurology
Attendee
Nevşehir/Ürgüp-Turkey
Invited Talks
February 2022
February 2022Epilepside kromozom anomalileri
Conference
İstanbul Üniversitesi-Turkey
June 2021
June 2021Kromozomal Hastalıklar, Tanı Testleri ve Sınırlamaları
Conference
Maternal Tıp ve Prenatal Tanı Kongresi-Turkey
February 2021
February 2021İstanbul Üniversitesi, EPİMER online sempozyumu: “Epilepside sırnırların ötesine geçmek” Kromozomal anomaliler ve epilepsi
Conference
İstanbul Üniversitesi-Turkey
Scholarships
1983 - 1986
1983 - 1986Tübitak Yurt içi Bilim Adamı yetiştirme programı
TUBITAK
Citations
Total Citations (WOS): 583
h-index (WOS): 12
Jury Memberships
January-2024
January 2024Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
January-2024
January 2024Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
January-2024
January 2024Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
January-2024
January 2024Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
August-2023
August 2023Post Graduate
Post Graduate - İstanbul Üniversitesi
August-2023
August 2023Expertise In Medicine
Expertise In Medicine - İstanbul Üniversitesi
May-2023
May 2023Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
April-2023
April 2023Doctorate
Doctorate - İstanbul Üniversitesi
January-2023
January 2023Appointment to Academic Staff-Professorship
Appointment to Academic Staff-Professorship - İstanbul Üniversitesi
January-2023
January 2023Doctorate
Doctorate - Trakya Üniversitesi
January-2023
January 2023Doctorate
Doctorate - İstanbul Üniversitesi
January-2023
January 2023Appointment to Academic Staff-Professorship
Appointment to Academic Staff-Professorship - İstanbul Üniversitesi
December-2022
December 2022Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
December-2022
December 2022Appointment to Academic Staff-Assistant Professorship
Appointment to Academic Staff-Assistant Professorship - İstanbul Üniversitesi
August-2022
August 2022Appointment to Academic Staff-Professorship
Appointment to Academic Staff-Professorship - İstanbul Üniversitesi
August-2022
August 2022Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
June-2022
June 2022PhD Thesis Monitoring Committee Member
PhD Thesis Monitoring Committee Member - İstanbul Üniversitesi
June-2022
June 2022Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
June-2022
June 2022Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
June-2022
June 2022Appointment to Academic Staff-Professorship
Appointment to Academic Staff-Professorship - İstanbul Üniversitesi
March-2022
March 2022Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
August-2021
August 2021Appointment to Academic Staff-Assistant Professorship
Appointment Academic Staff - Van Yüzüncü Yıl Üniversitesi
June-2021
June 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
June-2021
June 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
June-2021
June 2021Appointment to Academic Staff-Professorship
Appointment Academic Staff - Yakın Doğu Üniversitesi
May-2021
May 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
May-2021
May 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
April-2021
April 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
April-2021
April 2021Associate Professor Exam
Associate Professor Exam - Yeditepe Üniversitesi
March-2021
March 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
February-2021
February 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
February-2021
February 2021Post Graduate
Post Graduate - İstanbul Üniversitesi
January-2021
January 2021Doctoral Examination
Doctoral Examination - İstanbul Üniversitesi
January-2021
January 2021Expertise In Medicine
Expertise In Medicine - İstanbul Üniversitesi
December-2020
December 2020Doctoral Examination
Doctoral Examination - Eskişehir Osmangazi Üniversitesi
October-2020
October 2020Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
October-2020
October 2020Associate Professor Exam
Associate Professor Exam - İstanbul Üniversitesi
July-2013
July 2013Post Graduate
Tez savunma Jürisi - İstanbul Üniversitesi, sağlık Bilimleri Enstitüsü
July-2012
July 2012Expertise In Medicine
Tez savunma Jürisi - İstanbul Üniversitesi, İstanbul Tıp Fakültesi, Tıbbi genetik AD
May-2012
May 2012Doctoral Examination
DOKTORA YETERLİLİK SINAVI - OGÜ, SAĞLIK BİLİMLERİ ENSTİTÜSÜ TIBBİ GENETİK DOKTORA PROGRAMI
July-2010
July 2010Doctoral Examination
DOKTORA YETERLİLİK SINAVI - SAĞLIK BİLİMLERİ ENSTİTÜSÜ, GENETİK DOKTORA PROGRAMI
July-2009
July 2009Post Graduate
Tez savunma Jürisi - İstanbul Üniversitesi, sağlık Bilimleri Enstitüsü
July-2009
July 2009