Education
2004 - 2015
2004 - 2015Expertise In Medicine
Istanbul University, Turkey
1998 - 2004
1998 - 2004Undergraduate
Istanbul University, Turkey
Dissertations
2009
2009Expertise In Medicine
Epilepsi hastalarında ilaç direncinin MDR1 genindeki C3435T VE G2677T/A polimorfizmleri ile ilişkisi
Istanbul University
Foreign Languages
C1 Advanced
C1 AdvancedEnglish
Research Areas
Medical Genetics
Academic Positions
2023 - Continues
2023 - ContinuesProfessor
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
2020 - 2023
2020 - 2023Associate Professor
Istanbul University, Istanbul Medical Faculty, Division of Medical Sciences
2016 - 2020
2016 - 2020Associate Professor
Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine
2013 - 2016
2013 - 2016Assistant Professor
Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine
Managerial Experience
2019 - 2020
2019 - 2020Member Of Scientific Research Projects Committee
Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine
2013 - 2020
2013 - 2020Head of Department
Bezmialem Vakıf University, Faculty Of Medicine, Department Of Internal Medicine
Non Academic Experience
2022 - 2022
2022 - 2022OBSERVER
NHS UCL INSTITUTE OF NEUROLOGY, OBSERVER
2019 - 2021
2019 - 2021Genel Sekreter
Tıbbi Genetik Derneği, Genel Sekreter
2012 - 2012
2012 - 2012Project Intern
Baylor College of Medicine, Department of Molecular and Human Genetics, Lupski Lab., Project Intern
2009 - 2011
2009 - 2011Tıbbi Genetik Uzmani
İSTANBUL ZEYNEP KAMİL KADIN VE ÇOCUK HASTALIKLARI EĞİTİM VE ARAŞTIRMA HASTANESİ, Tıbbi Genetik Uzmani
Courses
Doctorate
KALITSAL KANSERLERDE RİSK HESAPLAMALARI
Doctorate
GENETIC AND CLINIC ASPECTS OF RARE DISEASE
Kromozom Kirik Sendromlari Phd
Klinik genetiğe giriş ve dismorfoloji prensipleri Gend7012
KALITSAL KANSERLERDE RİSK HESAPLAMALARI
Postgraduate
Postgraduate
Tek Gen Hastalıkları Genetik Danışma
Konjenital Anomaliler Ve Dismorfik Sendromlar Mart 2022
Otozomal Yapısal Kromozom Anomalileri
Sık Görülen Kromozom Anomalileri
Herediter kas ve kemik hastalıkları
Genitoüriner Sistem Anomalileri
Santral sistem genetiği ve hastalıkları
Kanser ve genetik
Sex Chromosome Disorders
Autosomal Chromosome Disorders
General principles of Multifactorial Disorders
Heredity models
Chromosomal Abnormalities
Microdeletions and Clinical Effects
Supervised Theses
in Progress
in ProgressExpertise In Medicine
Fetal Dönemde Kontraktürler İle Seyreden Sendromların Moleküler Etiyopatogenezinin Yeni Nesil Dizileme Yöntemleri İle Araştırılması
Yeşil Sayın G. (Advisor)
G.Tutku(Student)
Continues
ContinuesDoctorate
ailesel parkinson hastalığında yeni nesil dizileme ve tüm ekzom dizileme yöntemleri ile aday genlerin ve yeni varyantların belirlenmesi
Yeşil G. (Advisor)
h.atasoy(Student)
Taught Courses and Trainings
2021 - 2021
2021 - 2021Genetik okur yazarlık kursu I
Academic Units - Certificate Program
Karaman B., Palanduz Ş., Öztürk Ş., Kalaycı T., Aslanger A. D., Yeşil Sayın G.
Journal articles indexed in SCI, SSCI, and AHCI
2025
2025Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
Aynekin B., Akbaş S., Gulec A., Gumus U. G. O., Guner A. E., Efthymiou S., et al.
Neurogenetics
, vol.26, no.1, pp.23, 2025 (SCI-Expanded)
2024
2024Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10
GÜLER S., Aslanger A. D., Uygur Sahin T., ALKAN A., YALÇINKAYA C., SALTIK S., et al.
PEDIATRIC NEUROLOGY
, vol.158, pp.1-10, 2024 (SCI-Expanded)
2024
2024Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
Kaiyrzhanov R., Ortigoza-Escobar J. D., Stringer B. W., Ganieva M., Gowda V. K., Srinivasan V. M., et al.
Movement Disorders
, vol.39, no.6, pp.983-995, 2024 (SCI-Expanded)
2024
2024A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features
Durmaz D., Aslanger A. D., Yavas Abali Z., Yilmaz Y., Karaman V., Yesil Sayin G., et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
, vol.46, no.3, 2024 (SCI-Expanded)
2024
2024Functional characterization of <i>KCNMA1</i> mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy
YÜCESAN E., GÖNCÜ B. S., ÖZGÜL C., Kebapci A., Aslanger A. D., Akyuz E., et al.
INTERNATIONAL JOURNAL OF NEUROSCIENCE
, vol.134, no.10, pp.1098-1103, 2024 (SCI-Expanded)
2023
2023Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Maroofian R., Kaiyrzhanov R., Cali E., Zamani M., Zaki M. S., Ferla M., et al.
BRAIN
, vol.146, no.12, pp.5031-5043, 2023 (SCI-Expanded)
2023
2023Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11
Uzunyayla-Inci G., KIYKIM E., ZÜBARİOĞLU T., YEŞİL SAYIN G., AKTUĞLU ZEYBEK A. Ç.
Molecular Syndromology
, vol.14, no.5, pp.428-432, 2023 (SCI-Expanded)
2023
2023TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
Brain : a journal of neurology
, 2023 (SCI-Expanded)
2023
2023A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy
Abali Z. Y., Ili E. G., Baş F., Ozkan M. U., Güleç Ç., Toksoy G., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.97, no.2, pp.157-164, 2023 (SCI-Expanded)
2023
2023A Second Family with Myhre Syndrome Caused by the Same Recurrent <i>SMAD4</i> Pathogenic Variation (p.Arg496Cys)
Demir S., Alavanda C., YEŞİL SAYIN G., ASLANGER A. D., ARSLAN ATEŞ E.
MOLECULAR SYNDROMOLOGY
, vol.14, no.2, pp.175-180, 2023 (SCI-Expanded)
2023
2023A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.
Yildiz M., Onal Z., Yesil G., Kabil T. G., Toksoy G., Poyrazoglu Ş., et al.
Journal of clinical research in pediatric endocrinology
, 2023 (SCI-Expanded)
2023
2023Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Saida K., Maroofian R., Sengoku T., Mitani T., Pagnamenta A. T., Marafi D., et al.
Genetics in Medicine
, vol.25, no.1, pp.90-102, 2023 (SCI-Expanded)
2023
2023The effect of hereditary thrombotic factors and comorbidities on the severity of COVID-19 disease
Kose M., Senkal N., Konyaoglu H., Emet A., Oyaci Y., PEHLİVAN S., et al.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
, vol.27, no.1, pp.395-403, 2023 (SCI-Expanded)
2022
2022A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
Yeter B., Dilruba Aslanger A. D., Yesil G., Elcioglu N. H.
Journal of clinical research in pediatric endocrinology
, vol.14, no.4, pp.475-480, 2022 (SCI-Expanded)
2022
2022Phenotypic continuum of NFU1-related disorders
Kaiyrzhanov R., Zaki M. S., Lau T., Sen S., Azizimalamiri R., Zamani M., et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
, vol.9, no.12, pp.2025-2035, 2022 (SCI-Expanded)
2022
2022Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.
Dedeoglu S., Dede E., Oztunc F., Gedikbasi A., Yesil G., Dedeoglu R.
Orphanet journal of rare diseases
, vol.17, no.1, pp.359, 2022 (SCI-Expanded)
2022
2022Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies <i>via</i> Next Generation Sequencing Technology
ÖZTÜRK A. P., TOKSOY G., BAŞ F., Abali Z. Y., Bagirova G., KARAMAN V., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 2, pp.91-92, 2022 (SCI-Expanded)
2022
2022A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy
Bezen D., Kutlu O., Mouilleron S., Rizzoti K., Dattani M., GÜRAN T., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.188, no.9, pp.2701-2706, 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
2022Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings
Tanriverdi U., SER M. H., Yesil G., GÜNDÜZ A., ÖZKARA Ç., Kiziltan M. E.
PARKINSONISM & RELATED DISORDERS
, vol.99, pp.73-75, 2022 (SCI-Expanded)
2022
2022Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability
Aslanger A. D., GÖNCÜ B. S., Duzenli O. F., YÜCESAN E., Sengenc E., Yesil G.
JOURNAL OF HUMAN GENETICS
, vol.67, no.5, pp.279-284, 2022 (SCI-Expanded)
2022
2022Investigation of <i><u>MBL2</u></i> and <i><u>NOS3</u></i> functional gene variants in suspected COVID-19 PCR (-) patients.
Pehlivan S., Köse M., Mese S., Serin I., Senkal N., Oyacı Y., et al.
Pathogens and global health
, vol.116, no.3, pp.178-184, 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
2022Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
KOCAMIŞ B., Baser D., Akcam B., Danielson J., Eltan S. B., Haliloglu Y., et al.
ALLERGY
, vol.77, no.3, pp.1004-1019, 2022 (SCI-Expanded)
2022
2022Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
TÜYSÜZ B., Elkanova L., Uludağ Alkaya D., Güleç Ç., TOKSOY G., Güneş N., et al.
Bone
, vol.155, 2022 (SCI-Expanded)
2022
2022Clinical and molecular findings in 6 Turkish cases with Krabbe disease
Aslanger A. D., Şengenç E., Kölemen A. B., Demiral E., ALKAN A., İşcan A., et al.
Turkish Journal of Pediatrics
, vol.64, no.1, pp.69-78, 2022 (SCI-Expanded)
2021
2021Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
ÇİÇEK D., Warr N., Yesil G., Eker H. K., Bas F., Poyrazoglu Ş., et al.
European journal of endocrinology
, vol.186, no.1, pp.65-72, 2021 (SCI-Expanded)
2021
2021Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
ULUDAĞ ALKAYA D., Lissewski C., Yesil G., Zenker M., TÜYSÜZ B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.12, pp.3623-3633, 2021 (SCI-Expanded)
2021
2021High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T., Isikay S., Gezdirici A., Gulec E. Y., Punetha J., Fatih J. M., et al.
American journal of human genetics
, vol.108, no.10, pp.1981-2005, 2021 (SCI-Expanded)
2021
2021Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Tüysüz B., Alp Ünkar Z., Turan H., Gezdirici A., Uludağ Alkaya D., Kasap B., et al.
European journal of medical genetics
, vol.64, no.12, pp.104346, 2021 (SCI-Expanded)
2021
2021Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients
Gunes N., Gunes N., Yesil G., YEŞİL G., Geyik F., Geyik F., et al.
ANNALS OF HUMAN GENETICS
, vol.85, pp.155-165, 2021 (SCI-Expanded)
2021
2021Biallelic <i>PPP2R3C</i> mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals
ÇİÇEK D., Warr N., Yesil G., Eker H. K., Bas F., Poyrazoglu Ş., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 1, pp.92, 2021 (SCI-Expanded)
2021
2021Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support
Kolemen A. B., Akyuz E., TOPRAK A., Deveci E., YEŞİL SAYIN G.
ORPHANET JOURNAL OF RARE DISEASES
, vol.16, no.1, 2021 (SCI-Expanded)
2021
2021Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency
Shafer S., Yao Y., Comrie W., Cook S., Zhang Y., Yesil G., et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
, vol.148, no.1, pp.256-263, 2021 (SCI-Expanded)
2021
2021Strong mesangial IgA staining-does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Answers
Altun I., SAYGILI S. K., CANPOLAT N., Ozluk Y., Hurdogan O., YEŞİL SAYIN G., et al.
PEDIATRIC NEPHROLOGY
, vol.36, no.7, pp.2043-2045, 2021 (SCI-Expanded)
2021
2021Strong mesangial IgA staining-does it always refer to IgA nephropathy in a patient with proteinuria and hematuria? Questions
ALTUN İ., SAYGILI S. K., CANPOLAT N., Ozluk Y., Hurdogan O., YEŞİL SAYIN G., et al.
PEDIATRIC NEPHROLOGY
, vol.36, no.7, pp.2039-2041, 2021 (SCI-Expanded)
2021
2021FAMILIAL ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH POSITIVE p.S1191L (c.3572C > T) MUTATION ON THE CFH GENE: A SINGLE-CENTER EXPERIENCE
Dursun E. F., Dursun E. F., Yesil G., YEŞİL SAYIN G., Sasak G., Sasak G., et al.
BALKAN JOURNAL OF MEDICAL GENETICS
, vol.24, no.1, pp.81-87, 2021 (SCI-Expanded)
2021
2021Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum
Tuysuz B., Gunes N., Geyik F., Yesil G., Celkan T., VURAL Z. M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.6, pp.1721-1731, 2021 (SCI-Expanded)
2021
2021Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection.
Medetalibeyoglu A., Bahat G., Senkal N., Kose M., Avcı K., Sayın G., et al.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases
, vol.89, pp.104717, 2021 (SCI-Expanded)
2021
2021CAUSE OF RECURRENT RHABDOMYOLYSIS, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY AND NOVEL PATHOGENIC MUTATION
Cakar N. E., Gor Z., YEŞİL SAYIN G.
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
, vol.74, no.3-4, pp.135-138, 2021 (SCI-Expanded)
2021
2021Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients
ÖĞÜLÜR İ., Öğülür İ., Ertuzun T., Ertuzun T., KOCAMIŞ B., Kocamış B., et al.
PEDIATRIC ALLERGY AND IMMUNOLOGY
, vol.32, no.2, pp.349-357, 2021 (SCI-Expanded)
2020
2020Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy
YÜCESAN E., Goncu B. S., Aslanger A., Ozgul C., Hasanoglu S., Yesil G.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.28, no.SUPPL 1, pp.344-345, 2020 (SCI-Expanded)
2020
2020Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature
Aslanger A. D., Demiral E., Sonmez-Sahin S., Guler S., Goncu B., Yucesan E., et al.
NEUROPEDIATRICS
, vol.51, no.06, pp.430-434, 2020 (SCI-Expanded)
2020
2020Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort
BARIŞ H. E., Ogulur I., Akcam B., KIYKIM A., Karagoz D., SARAYMEN B., et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
, vol.8, no.10, pp.3525-3535, 2020 (SCI-Expanded)
2020
2020Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
Gonzaga-Jauregui C., Yesil G., Nistala H., Gezdirici A., Bayram Y., Nannuru K. C., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.28, no.9, pp.1243-1264, 2020 (SCI-Expanded)
2020
2020Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1
KARA B., SARIKAYA C., Bayrak Y. E., Gunes A. S., GÜNGÖR M., YEŞİL SAYIN G.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
, vol.80, pp.181-182, 2020 (SCI-Expanded)
2020
2020A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to <i>TBX19</i> Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature
Kardelen Al A. D., Al A. D. K., Poyrazoglu S., Poyrazoǧlu Ş., Aslanger A., Aslanger A. D., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.6, pp.395-403, 2020 (SCI-Expanded)
2020
2020A CASE OF SOTOS SYNDROME CAUSED BY A NOVEL VARIANT IN THE NSD1 GENE: A PROPOSED RATIONALE TO TREAT ACCOMPANYING PRECOCIOUS PUBERTY
Ozcabi B., Akay G., YEŞİL SAYIN G., Yalcin E. U., Kirmizibekmez H.
ACTA ENDOCRINOLOGICA-BUCHAREST
, vol.16, no.2, pp.245-249, 2020 (SCI-Expanded)
2020
2020Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers
Abali Z. Y., Yavas A., Yesil G., Yesil G., Kirkgoz T., Kirkgoz T., et al.
PEDIATRIC NEPHROLOGY
, vol.35, no.3, pp.405-407, 2020 (SCI-Expanded)
2020
2020Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions
Yavas A., Abali Z. Y., Yesil G., Yesil G., Kirkgoz T., Kirkgoz T., et al.
PEDIATRIC NEPHROLOGY
, vol.35, no.3, pp.403-404, 2020 (SCI-Expanded)
2020
2020Vanishing white matter disease with different faces
Güngör G., Gungor G., Güngör O., Gungor O., Çakmaklı S., Cakmakli S., et al.
CHILDS NERVOUS SYSTEM
, vol.36, no.2, pp.353-361, 2020 (SCI-Expanded)
2020
2020A rare cause of hypertension in childhood: Questions
Kucuk N., Kucuk N., Yavas A., Abali Z. Y., Abali S., ABALI S., et al.
PEDIATRIC NEPHROLOGY
, vol.35, no.1, pp.77-78, 2020 (SCI-Expanded)
2020
2020A rare cause of hypertension in childhood: Answers
Kucuk N., Kucuk N., Yavas A., Abali Z. Y., Abalı S., ABALI S., et al.
PEDIATRIC NEPHROLOGY
, vol.35, no.1, pp.79-82, 2020 (SCI-Expanded)
2019
2019Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Karaca E., Karaca E., Posey J. E., Posey J. E., Bostwick B., Bostwick B., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.179, no.10, pp.2056-2066, 2019 (SCI-Expanded)
2019
2019Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey
Zubarioglu T., Zubarioglu T., Kiykim E., Kiykim E., YEŞİL G., YEŞİL G., et al.
ACTA NEUROLOGICA BELGICA
, vol.119, no.3, pp.343-350, 2019 (SCI-Expanded)
2019
2019Novel PTCH1 Gene Mutation in a Patient with Gorlin-Goltz Syndrome
Ozlu E., KARADAĞ A. S., AKALIN İ., Yesil G., Yilmaz S., Zindanci I., et al.
ANNALS OF DERMATOLOGY
, vol.31, 2019 (SCI-Expanded)
2019
2019Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A., Jolly A., Bayram Y., Bayram Y., Turan S., DEMİRCİOĞLU S., et al.
The Journal of clinical endocrinology and metabolism
, vol.104, no.8, pp.3049-3067, 2019 (SCI-Expanded)
2019
2019The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Pehlivan D., Pehlivan D., Bayram Y., Bayram Y., Gunes N., Gunes N., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.105, no.1, pp.132-150, 2019 (SCI-Expanded)
2019
2019CYTOCHROME P450 OXIDOREDUCTASE ENZYME DEFICIENCY: A CASE REPORT
Ozgen I. T., Kutlu E., Nursoy H., Cesur Y., YEŞİL SAYIN G.
ARCHIVES OF DISEASE IN CHILDHOOD
, vol.104, 2019 (SCI-Expanded)
2019
2019PATIENT WITH INTERMITTENT POSTURE ABNORMALITY: AN ALEXANDER DISEASE CASE REPORT
İÇAĞASIOĞLU D. F., İÇAĞASIOĞLU D. F., İŞCAN A., Iscan A., ARALAŞMAK A., Aralasmak A., et al.
ARCHIVES OF DISEASE IN CHILDHOOD
, vol.104, 2019 (SCI-Expanded)
2019
2019Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
Abali Z. Y., Abali Z. Y., YEŞİL G., Yesil G., KIRKGÖZ T., Kirkgoz T., et al.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
, vol.18, no.2, pp.229-236, 2019 (SCI-Expanded)
2019
2019PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
GÜRAN T., YEŞİL G., Turan S., Atay Z., BOZKURTLAR E., Aghayev A., et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
, vol.180, no.5, pp.291-309, 2019 (SCI-Expanded)
2019
2019MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad A., Rad A., Altunoglu U., Altunoglu U., Miller R., Miller R., et al.
JOURNAL OF MEDICAL GENETICS
, vol.56, no.5, pp.332-339, 2019 (SCI-Expanded)
2019
2019Correlation Between DTI Findings and Volume of Corpus Callosum in Children with Autism
Temur H. O., Temur H. O., YURTSEVER İ., YURTSEVER İ., YEŞİL G., Yesil G., et al.
CURRENT MEDICAL IMAGING
, vol.15, no.9, pp.895-899, 2019 (SCI-Expanded)
2018
2018Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E., Karaca E., Posey J., Posey J. E., Coban A., Akdemir Z. C., et al.
Genetics in medicine : official journal of the American College of Medical Genetics
, vol.20, pp.1528-1537, 2018 (SCI-Expanded)
2018
2018Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up.
Bektas G., Bektas G., YEŞİL G., YEŞİL G., Ozkan M. U., Ozkan M. U., et al.
Clinical neurology and neurosurgery
, vol.171, pp.190-193, 2018 (SCI-Expanded)
2018
2018Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
Yesil G., YEŞİL G., ARALAŞMAK A., Aralasmak A., Akyuz E., Akyuz E., et al.
BALKAN MEDICAL JOURNAL
, vol.35, no.4, pp.336-339, 2018 (SCI-Expanded)
2018
2018Mucolipidosis type III gamma: Three novel mutation and genotype phenotype study in eleven patients
Tüysüz B., Tuysuz B., Kasapçopur Ö., Kasapcopur O., Alkaya D. U., Alkaya D. U., et al.
GENE
, vol.642, pp.398-407, 2018 (SCI-Expanded)
2018
2018Two Siblings with Alstrom Syndrome
Cebeci A. N., Cebeci A. N., YEŞİL G., Yesil G., Ekici B., Ekici B.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.455, 2018 (SCI-Expanded)
2018
2018An 18 Month Old Boy with Hypoglycemic Convulsion and Obesity Due to POMC Deficiency
KAYGUSUZ S. B., KAYGUSUZ S. B., Yesil G., YEŞİL G., KIRKGÖZ T., Kirkgoz T., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.514, 2018 (SCI-Expanded)
2018
2018The Contribution of DTI in Determining the Relationship of Epilepsy and Brain Lesions in Children with Tuberous Sclerosis
Kurtcan S., Kurtcan S., Alkan A., ALKAN A., Guler S., GULER S., et al.
CURRENT MEDICAL IMAGING REVIEWS
, vol.14, no.3, pp.401-406, 2018 (SCI-Expanded)
2018
2018Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
Gunes N., Gunes N., YEŞİL G., YEŞİL G., Beng K., Beng K., et al.
MOLECULAR SYNDROMOLOGY
, vol.9, no.3, pp.134-140, 2018 (SCI-Expanded)
2018
2018Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.
YILDIZ E. P., Yildiz E., YEŞİL G., YEŞİL G., BEKTAS G., Bektas G., et al.
Clinical neurology and neurosurgery
, vol.164, pp.47-49, 2018 (SCI-Expanded)
2018
2018Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation
Abali Z. Y., YEŞİL G., KIRKGÖZ T., KAYGUSUZ S. B., Turan S., BEREKET A., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.132, 2018 (SCI-Expanded)
2018
2018Familial amyloid polyneuropathy due to p.ALA140 ser mutation
Gürsoy A., GÜRSOY A. E., YEŞİL G., Yeşil G., ERGÜN S., ERGÜN S., et al.
Neurology India
, vol.66, no.1, pp.238-241, 2018 (SCI-Expanded)
2017
2017Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?
GULER S., Güler S., YESIL G., YEŞİL G., ÖNAL H., ÖNAL H.
Balkan medical journal
, vol.34, pp.522-526, 2017 (SCI-Expanded)
2017
2017A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.
YILDIZ E. P., YILDIZ E., YEŞİL G., YESIL G., OZKAN M. U., OZKAN M. U., et al.
Seizure
, vol.51, pp.77-79, 2017 (SCI-Expanded)
2017
2017Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A., Stray-Pedersen A., Sorte H., Sorte H. S., Samarakoon P., Samarakoon P., et al.
The Journal of allergy and clinical immunology
, vol.139, pp.232-245, 2017 (SCI-Expanded)
2017
2017Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.
Bektas G., Bektas G., Yesil G., YEŞİL G., Yildiz E. P., Yildiz E., et al.
The Turkish journal of pediatrics
, vol.59, no.3, pp.329-334, 2017 (SCI-Expanded)
2017
2017A case with Rubinstein–Taybi syndrome: A novel frameshift mutation in the CREBBP gene
Eser M., Eser M., Ayaz A., Ayaz A., Yeşil G., YEŞİL G.
Turkish Journal of Pediatrics
, vol.59, no.5, pp.601-603, 2017 (SCI-Expanded)
2016
2016Microcephaly, Dysmorphic Features, Corneal Dystrophy, Hairy Nipples, Underdeveloped Labioscrotal Folds, and Small Cerebellum in Four Patients
Kayserili H., Kayserili H., Altunoglu U., Altunoglu U., YEŞİL G., Yesil G., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.170, no.6, pp.1391-1399, 2016 (SCI-Expanded)
2016
2016Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia
Kiykim A., Kiykim A., Garncarz W., GARNCARZ W., Karakoc-Aydiner E., Karakoc-Aydiner E., et al.
CLINICAL IMMUNOLOGY
, vol.165, pp.1-3, 2016 (SCI-Expanded)
2016
2016MRI and MRS findings in fucosidosis; a rare lysosomal storage disease
Ediz S. S., EDIZ S. S., Aralasmak A., Aralasmak A., YILMAZ T. F., YILMAZ T. F., et al.
Brain and Development
, vol.38, no.4, pp.435-438, 2016 (SCI-Expanded)
2016
2016Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Harel T., YEŞİL G., Bayram Y., Coban-Akdemir Z., Charng W., Karaca E., et al.
American Journal of Human Genetics
, vol.98, no.3, pp.562-570, 2016 (SCI-Expanded)
2016
2016Two different mutations of gli3 gene in two different syndromes
CANDAN S., Candan S., YEŞİL G., Yesil G., Sendalkiran E., SENDALKIRAN E., et al.
Genetic Counseling
, vol.27, no.4, pp.519-524, 2016 (SCI-Expanded)
2016
2016Sleep disturbances and serum vitamin D levels in children with autism spectrum disorder
Guler S., GULER S., YEŞİL G., YEŞİL G., Ozdil M., Ozdil M., et al.
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
, vol.9, no.7, pp.14691-14697, 2016 (SCI-Expanded)
2015
2015Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca E., Karaca E., Harel T., Harel T., Pehlivan D., Pehlivan D., et al.
NEURON
, vol.88, no.3, pp.499-513, 2015 (SCI-Expanded)
2015
2015Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
YUAN B., Yuan B., Pehlivan D., PEHLIVAN D., Karaca E., KARACA E., et al.
JOURNAL OF CLINICAL INVESTIGATION
, vol.125, no.2, pp.636-651, 2015 (SCI-Expanded)
2015
2015Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism
Bayram Y., Bayram Y., Gulsuner S., Gulsuner S., Guran T., GÜRAN T., et al.
Journal of Clinical Endocrinology and Metabolism
, vol.100, no.5, 2015 (SCI-Expanded)
2015
2015Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Simons C., Simons C., Rash L. D., Rash L., Crawford J., Crawford J., et al.
Nature genetics
, vol.47, pp.73-7, 2015 (SCI-Expanded)
2014
2014Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency
GEÇKİNLİ B. B., GECKINLI B. B., TOKSOY G., Toksoy G., SAYAR C., SAYAR C., et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
, vol.182, pp.211-215, 2014 (SCI-Expanded)
2014
2014Comparison of metabolic profile and abdominal fat distribution between karyotypically normal women with premature ovarian insufficiency and age matched controls
ATEŞ S., ATES S., YESIL G., Yesil G., Sevket O., ŞEVKET O., et al.
Maturitas
, vol.79, no.3, pp.306-310, 2014 (SCI-Expanded)
2014
2014Stuve-Wiedemann Syndrome: Is it Underrecognized?
YEŞİL G., Yesil G., Lebre A. S., Lebre A. S., Dos Santos S., Dos Santos S., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.164, no.9, pp.2200-2205, 2014 (SCI-Expanded)
2014
2014Human CLP1 mutations alter tRNA biogenesis, Affecting both peripheral and central nervous system function
Karaca E., KARACA E., WEITZER S., Weitzer S., Pehlivan D., PEHLIVAN D., et al.
Cell
, vol.157, no.3, pp.636-650, 2014 (SCI-Expanded)
2014
2014The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children
Seven M., Seven M., Batar B., Batar B., Unal S., Unal S., et al.
Molecular Biology Reports
, vol.41, no.1, pp.331-336, 2014 (SCI-Expanded)
2014
2014The effect of genetic polymorphisms of cytochrome P450 CYP2C9, CYP2C19, and CYP2D6 on drug-resistant epilepsy in Turkish children
Seven M., Seven M., Batar B., Batar B., Unal S., Unal S., et al.
Molecular Diagnosis and Therapy
, vol.18, no.2, pp.229-236, 2014 (SCI-Expanded)
2014
2014Report of a patient with Temple-Baraitser syndrome
YEŞİL G., YESIL G., Guler S., Guler S., Yuksel A., YUKSEL A., et al.
American Journal of Medical Genetics, Part A
, vol.164, no.3, pp.848-851, 2014 (SCI-Expanded)
2013
2013Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients
Santen G. W., Aten E., Vulto-van Silfhout A. T., Pottinger C., van Bon B. W., van Minderhout I. J., et al.
Human Mutation
, vol.34, no.11, pp.1519-1528, 2013 (SCI-Expanded)
2013
2013Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Iida A., Iida A., Simsek-Kiper P. O., Simsek-Kiper P. O., Mizumoto S., Mizumoto S., et al.
HUMAN MUTATION
, vol.34, no.10, pp.1381-1386, 2013 (SCI-Expanded)
2013
2013Congenital agenesis of scrotum and labia majora in siblings
Silay M. S., SILAY M. S., Yesil G., Yesil G., Yildiz K., Yildiz K., et al.
Urology
, vol.81, no.2, pp.421-423, 2013 (SCI-Expanded)
2012
2012A giant ovarian cyst in a neonate with classical 21-hydroxylase deficiency with very high testosterone levels demonstrating a high-dose hook effect
GÜRAN T., GÜRAN T., Yeşil G., Yesil G., Guran O., Güran Ö., et al.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, vol.4, no.3, pp.151-153, 2012 (SCI-Expanded)
2012
2012An infant with spinal muscular atrophy and tetrology of Fallot
Ekici B., Ekici B., Demir I. H., Demir I. H., Ocak S., Ocak S., et al.
CLINICAL NEUROLOGY AND NEUROSURGERY
, vol.114, no.7, pp.1033-1034, 2012 (SCI-Expanded)
2012
2012A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: Coincidence or a new entity?
Yalcinkaya C., Yalcinkaya C., Erturk O., Erturk O., Tuysuz B., Tuysuz B., et al.
Neuropediatrics
, vol.43, no.3, pp.159-161, 2012 (SCI-Expanded)
2011
2011Restrictive dermopathy in a Turkish newborn
Yesil G., Yesil G., Hatipoglu I., Hatipoglu I., Esteves-Vieira V., Esteves-Vieira V., et al.
Pediatric Dermatology
, vol.28, no.4, pp.408-411, 2011 (SCI-Expanded)
2009
2009Thiamine-responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness
Onal H., ONAL H., Baris S., Baris S., Ozdil M., Ozdil M., et al.
Turkish Journal of Pediatrics
, vol.51, no.3, pp.301-304, 2009 (SCI-Expanded)
2007
2007Warburg Micro syndrome in a Turkish boy
Yueksel A., Yueksel A., Yesil G., Yesil G., Aras C., Aras C., et al.
Clinical Dysmorphology
, vol.16, no.2, pp.89-93, 2007 (SCI-Expanded)
2006
2006Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency
Yuksel A., Yuksel A., Seven M., Seven M., Cetincelik U., Cetincelik Ü., et al.
Pediatric Neurology
, vol.34, no.6, pp.486-489, 2006 (SCI-Expanded)
2006
2006Proteus syndrome with agenesis of the rectus abdominis [15]
Fenerci E. Y., Fenerci E. Y., Degirmenci S., Degirmenci S., Yesil G., Yesil G., et al.
British Journal of Dermatology
, vol.155, no.5, pp.1094-1095, 2006 (SCI-Expanded)
Articles Published in Other Journals
2025
2025Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy
GÖNCÜ B. S., YEŞİL SAYIN G., Aslanger A. D., YÜCESAN E.
Experimed
, vol.15, no.1, pp.41-48, 2025 (Scopus)
2023
2023Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
Accogli A., Zaki M. S., Al-Owain M., Otaif M. Y., Jackson A., Argilli E., et al.
BRAIN COMMUNICATIONS
, no.5, 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)
2021
2021Is There a Link between Circadian Clock Protein PERIOD 3 (PER3) (rs57875989) Variant and the Severity of COVID-19 Infection?
Yesil Sayin G., Pehlivan S., Serin I., Medetalibeyoglu A., Kose M., Agacfidan A., et al.
Current medical science
, vol.41, no.6, pp.1075-1080, 2021 (Scopus)
2021
2021Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Rustemoglu B. S., Samancı B., Tepgec F., Kürtüncü M., Altunoglu U., Gündüz T., et al.
TURKISH JOURNAL OF NEUROLOGY
, vol.27, no.3, pp.240-247, 2021 (ESCI)
2021
2021A Novel Mutation of HINT1 Gene in an Adolescent Female with Axonal Neuropathy and Neuromyotonia
KARA B., KARA B., Gul S., Gul S., Gunes A. S., Gunes A. S., et al.
JOURNAL OF PEDIATRIC NEUROLOGY
, vol.19, no.03, pp.180-182, 2021 (ESCI)
2020
2020Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria
ZÜBARİOĞLU T., YALÇINKAYA C., Oruc C., KIYKIM E., CANSEVER M. Ş., Gezdirici A., et al.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
, vol.55, no.3, pp.290-298, 2020 (ESCI)
2019
2019Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene
Celikboya E., Celikboya E., Cansever M. S., Cansever M. S., Zubarioglu T., Zubarioglu T., et al.
HASEKI TIP BULTENI-MEDICAL BULLETIN OF HASEKI
, vol.57, no.3, pp.328-331, 2019 (ESCI)
2019
2019A Case with Laron Syndrome
Özgen İ. T., ÖZGEN İ. T., Kutlu E., Kutlu E., Cesur Y., CESUR Y., et al.
BEZMIALEM SCIENCE
, vol.7, no.3, pp.251-254, 2019 (ESCI)
2019
2019Pseudohypoparathyroidism Type Ia with Normocalcemia
Kutlu E., Kutlu E., Özgen İ. T., ÖZGEN İ. T., CESUR Y., Cesur Y., et al.
BEZMIALEM SCIENCE
, vol.7, no.2, pp.170-173, 2019 (ESCI)
2019
2019Mide Kanseri ve Genetik.
Yeşil G.
Turkiye Klinikleri Medical Oncology-Special Topic
, vol.12, no.2, pp.17-23, 2019 (Peer-Reviewed Journal)
2016
2016Cytogenetic analysis of 65 women with premature ovarian insufficiency Prematür Over Yetmezliği Tanısı Alan 65 Kadında Genetik Analiz Sonuçları
ATEŞ S., ATEŞ S., ÖZCAN P., ÖZCAN P., YEŞİL G., Yeşil G.
Journal of Clinical and Analytical Medicine
, vol.7, no.5, pp.630-633, 2016 (ESCI)
2016
2016ASSOCIATION BETWEEN MIGRAINE AND ALLERGIC RHINITIS IN CHILDHOOD AND ADOLESCENCE
Guler S., Guler S., Sakalli E., Sakalli E., YEŞİL G., YEŞİL G.
NOBEL MEDICUS
, vol.12, no.2, pp.26-30, 2016 (ESCI)
2013
2013Ön Beyin Anomalileri ve Genetik Nedenleri.
Yeşil G.
Turkiye Klinikleri Pediatric Sciences-Special Topics, , vol.9, no.4, pp.6-12, 2013 (Peer-Reviewed Journal)
2007
2007Evaluation of mental retardation - Part 1: Etiologic classification of 4659 patients with mental retardation or multiple congenital abnormality and mental retardation
Yüksel A., Yüksel A., Kayserili H., Kayserili H., Yeşil G., Yeşil G., et al.
Journal of Pediatric Neurosciences
, vol.2, no.2, pp.45-52, 2007 (ESCI)
2007
2007Evaluation of mental retardation - Part 2: The factors that elucidate the etiologic diagnosis of the patients with mental retardation or multiple congenital abnormality and mental retardation
Yüksel A., Yüksel A., Kayserili H., Kayserili H., Yeşil G., Yeşil G., et al.
Journal of Pediatric Neurosciences
, vol.2, no.2, pp.53-57, 2007 (ESCI)
Papers Presented at Peer-Reviewed Scientific Conferences
2024
2024Ekzom Dizileme Verilerinde Saptanan Kopya Sayısı Değişikliklerinin Tanısal Katkısı: Tek Merkez Deneyimi
Yücesoy M. A., Akbaş S., Konur E. N., Durmaz D., Memiş G., Özden S. T., et al.
16. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.197, (Summary Text)
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, (Full Text)
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, (Summary Text)
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, (Summary Text)
2023
2023PIEZO1 İlişkili Dehidrate Herediter Stomasitoz-Herediter Kserositoz: Olgu Sunumu
Konur E. N., Aslanger A. D., Ocak S., Karaman V., Uyguner Z. O., Yeşil Sayın G.
2. Ulusal HematoOnkoGenetik Kongresi , Gazimagusa, Cyprus (Kktc), 4 - 07 May 2023, pp.90, (Summary Text)
2023
2023Ekzom Verilerinin Yeniden Analizinde Saptanan DNAJC21 İlişkili Nadir Görülen Bir Kemik İliği Yetmezliği Sendromu
DURMAZ D., YILMAZ Y., KARAMAN V., ASLANGER A. D., YEŞİL SAYIN G., ÜNÜVAR A., et al.
2. Ulusal HematoOnkoGenetik Kongresi / K.K.T.C, BAFRA, Cyprus (Kktc), 4 - 07 May 2023, pp.107, (Summary Text)
2022
2022Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature
ÖZTÜRK A. P., ASLANGER A. D., KARAKILIÇ ÖZTURAN E., KONUR E. N., GÜLEÇ Ç., KARAMAN V., et al.
60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, Italy, 15 - 17 September 2022, pp.313, (Summary Text)
2022
2022Mikobakteriyel Enfeksiyona Mendeliyen Yatkınlıkla İlişkili Gen Varyantlarının Primer İmmün Yetmezlik Altgruplarında Analizi
Karacan A., Akbaş S., Yücel E., Aslanger A. D., Yeşil Sayın G., Toksoy G., et al.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.171-172, (Summary Text)
2022
2022Osteogenezis Imperfekta Tanılı 15 Olgunun Moleküler Sonuçları
Hacer Ö., Aslanger A. D., Kalaycı T., Güleç Ç., Demir K., Toksoy G., et al.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.149, (Summary Text)
2022
2022Frank-Ter Haar Sendromu Tanili 3 Olgu ve Literatür Derlemesi
Konur E. N., Aslanger A. D., Kalaycı T., Altunoğlu U., Karaman V., Yeşil Sayın G., et al.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.91, (Summary Text)
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, (Summary Text)
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, (Summary Text)
2022
2022Kurum-Içi “In-House” Genetik Veritabanında Acmg Tarafından Önerilen Taşıyıcılık Taraması Genlerinin ve Raporlanması Önerilen Ikincil Bulguların Incelenmesi
DURMAZ D., GÜLEÇ Ç., KARAMAN V., TOKSOY G., YEŞİL SAYIN G.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.117, (Summary Text)
2022
2022Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology
ÖZTÜRK A. P., TOKSOY G., BAŞ F., YAVAŞ ABALI Z., Bagirova G., KARAMAN V., et al.
60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, Italy, 15 September 2022, (Full Text)
2022
2022Electrophysiological analysis and clinical follow-up in two siblings with action myoclonus- renal failure syndrome
Tanriverdi U., Ser M., Yesil G., Gunduz A., Kiziltan M. E., Cigdem O.
8th Congress of the European-Academy-of-Neurology (EAN), ELECTR NETWORK, 25 - 28 June 2022, vol.29, pp.734, (Summary Text)
2021
2021Laboratory And In Sılıco Analysıs Of The Pathogenic Variant Of Interleukin-17 (Rs763780) In Patients Diagnosed Wıth Covid-19
Oyacı Y., Şenkal N., MEDETALİBEYOĞLU A., YEŞİL SAYIN G., KÖSE M., PEHLİVAN M., et al.
Vııı.International Congress Of Molecular Medicine, Turkey, 9 - 12 November 2021, pp.13-17, (Full Text)
2021
2021Covid-19 Tanısı Konulan Hastalarda İnterlökin-17'nin Patojenik Varyantının (Rs763780) Laboratuvar Ve Siliko Analizi
Oyacı Y., Şenkal N., Medetalibeyoğlu A., Yeşil Sayın G., Köse M., Pehlivan M., et al.
VIII.International Congress Of Molecular Medicine, İstanbul, Turkey, 9 - 12 November 2021, pp.10, (Full Text)
2021
2021COVID-19 PCR (-) Hastalarda Mbl2 Ve Nos3 Fonksiyonel Gen Varyantlarının Araştırılması
Pehlivan S., Köse M., Meşe S., Serin I., Şenkal N., Oyacı Y., et al.
Tıbbi Biyoloji ve Genetik Kongresi, İstanbul, Turkey, 28 - 31 October 2021, pp.105, (Summary Text)
2021
2021DNA ONARIM GEN VARYANTLARI (XRCC4 VE XRCC1) İLE COVİD-19 ENFEKSİYONU ARASINDA BİR BAĞLANTI OLABİLİR Mİ?
SERİN İ., KÖSE M., PEHLİVAN S., ŞENKAL N., PEHLİVAN M., MEDETALİBEYOĞLU A., et al.
47. Ulusal Hematoloji Kongresi, Turkey, 4 - 07 November 2021, pp.358, (Full Text)
2021
2021PERIOD 3 (PER3) (RS57875989) VARYANTI İLE COVİD-19 ENFEKSİYONUNUN ŞİDDETİ ARASINDA BİR BAĞLANTI OLABİLİR Mİ?
SERİN İ., PEHLİVAN S., KÖSE M., ŞENKAL N., OYACI Y., MEDETALİBEYOĞLU A., et al.
47. Ulusal Hematoloji Kongresi, Turkey, 4 - 07 November 2021, pp.379, (Full Text)
2021
2021İLK TANI PCR (-) COVİD-19 HASTALARINDA MBL2 VE NOS3 FONKSİYONEL GEN VARYANTLARININ ARAŞTIRILMASI
SERİN İ., PEHLİVAN S., KÖSE M., MEŞE S., ŞENKAL N., OYACI Y., et al.
47. Ulusal Hematoloji Kongresi, Antalya, Turkey, 4 - 07 November 2021, pp.357, (Full Text)
2021
2021Sık Enfeksiyon Geçirme ve Kalıcı Artropati ile Seyreden RIPK1 Mutasyonu Olgusu
YÜCEL E., HIZLI DEMİRKALE Z., dolu k. o., aslanger a., YEŞİL SAYIN G., Kavrul Kayaalp G., et al.
7. Klinik İmmünoloji Kongresi, Ankara, Turkey, 06 October 2021, pp.79-80, (Summary Text)
2021
2021Sitokrom P450 oksidoredüktaz eksikliğine bağlı konjenital adrenal hiperplazi hastalarının klinik ve laboratuvar özellikleri: Olgu serisi
Bayrak Demirel Ö., Baş F., Kalaycı T., Yıldız M., Konur E. N., Poyrazoğlu Ş., et al.
25. Ulusal Pediatrik Endokrinoloji Kongresi, Antalya, Turkey, 6 - 10 October 2021, pp.305-307, (Full Text)
2021
2021Dna Onarım Gen Varyantları (Xrcc4 Ve Xrcc1) İle Covıd-19 Enfeksiyonu Arasında Bir Bağlantı Olabilir Mi?
Köse M., Serin I., Pehlivan S., Şenkal N., Pehlivan M., Medetalibeyoğlu A., et al.
Euroasıa Summıt 4th Internatıonal Applıed Scıence Congress, Odessa, Ukraine, 10 - 11 September 2021, vol.1, no.1, pp.125-132, (Full Text)
2021
2021Primer Gonadal Yetmezliğin Etiyolojisinde Yeni ve Nadir Bir Neden: Transaldolaz Eksikliği
YILDIZ M., ÖNAL Z., SARBAN E., KABİL T. G., ASLANGER A. D., YEŞİL SAYIN G., et al.
10. Çocuk Endokrinolojisi Olgu, Turkey, 09 April 2021, pp.73, (Summary Text)
2021
2021Investigation of Functional Variants of the Endothelital Nitric Oxide Synthetase Gene (rs1799983 and Intron 4a / b VNTR) in COVID-19 Patients
Şenkal N., Oyacı Y., KÖSE M., MEDETALİBEYOĞLU A., YEŞİL SAYIN G., PEHLİVAN M., et al.
International Symposium On Global Pandemics And Multidisciplinary Covid-19 Studies, 19 - 20 March 2021, pp.1-7, (Full Text)
2021
2021COVID-19 Hastalarında Endotel Nitrik Oksit Sentetaz Geninin (rs1799983 ve Intron 4a/b VNTR) Fonksiyonel Varyantlarının Araştırılması
Şenkal N., Oyacı Y., Köse M., Medetalibeyoğlu A., Önel M., Yeşil Sayın G., et al.
International Symposium On Global Pandemics And Multidisciplinary Covid-19 Studies , Ankara, Turkey, 19 - 20 March 2021, pp.1-7, (Full Text)
2021
2021NÖROBLASTOM TANILI HASTADA ERKEN PUBERTE İLE TANI ALAN KONJENİTAL ADRENAL HİPERPLAZİ OLGUSU
SARBAN E., YILDIZ M., ÖZTÜRK A. P., KARAMAN S., YEŞİL G., POYRAZOĞLU Ş., et al.
Çocuk endokrinolojisi olgu sunumları-10, İzmir, Turkey, 09 April 2021, (Summary Text)
2021
2021INVESTIGATION OF FUNCTIONAL VARIANTS OF THE ENDOTHELITAL NITRIC OXIDE SYNTHETASE GENE (rs1799983 AND INTRON 4a/b VNTR-27 BP) IN COVID-19 PATIENTS
ŞENKAL N., OYACI Y., KÖSE M., MEDETALİBEYOĞLU A., ÖNEL M., YEŞİL SAYIN G., et al.
International Symposium on Global Pandemics and Multidisciplinary Covid-19 Studies, Ankara, Turkey, 19 March 2021, (Full Text)
2021
2021Boy kısalığı ile başvuran bir olguda ayırıcı tanı: İdiyopatik boy kısalığı gerçek tanı mı
KARAKILIÇ ÖZTURAN E., ÖZTÜRK A. P., ASLANGER A. D., YEŞİL SAYIN G., SARBAN E., YILDIZ M., et al.
10. Çocuk Endokrinolojisi Olgu sunumları, Turkey, 09 April 2021, pp.119, (Summary Text)
2021
2021TBX19 mutasyonuna bağlı konjenital izole ACTH eksikliği ile beraber sekonder hipotirodi, BH eksikliği ve hiper IgE benzeri sendrom birlikteliği
ÖZTÜRK A. P., YÜCEL E., SABAN E., KARAKILIÇ ÖZTURAN E., ASLANGER A. D., YEŞİL SAYIN G., et al.
10. Çocuk Endokrinolojisi Olgu sunumları, Turkey, 09 April 2021, pp.110, (Summary Text)
2020
2020INVESTIGATION OF MBL2 AND NOS3 FUNCTIONAL GENE VARIANTS IN SUSPECTED COVID-19 PCR (-) PATIENTS:
PEHLİVAN S., KÖSE M., MEŞE S., serin i., Şenkal N., oyacı y., et al.
Eurosia Summit, Congress on Scientific Researches and Recent Trends-7, Baku, Azerbaijan, 6 - 09 December 2020, pp.21-26, (Full Text)
2020
2020INVESTIGATION OF MBL2 AND NOS3 FUNCTIONAL GENE VARIANTS IN SUSPECTED COVID-19 PCR (-) PATIENTS
PEHLİVAN S., KÖSE M., MEŞE S., SERİN İ., Şenkal N., Oyacı Y., et al.
EUROASIA Congress on Scientific Researches and Recent Trends-VII, Baku, Azerbaijan, 6 - 08 December 2020, vol.1, (Summary Text)
2020
2020A recurrent SMAD4 mutation causing familial Mhyre syndrome
DEMİR Ş., ARSLAN ATEŞ E., GEÇKİNLİ B. B., ASLANGER A. D., YEŞİL SAYIN G., ALAVANDA C., et al.
14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", 20 - 22 November 2020, vol.31, (Summary Text)
2020
2020organel patolojisi ile ilişkili trappopatiler: TRAPPC4, TRAPPC6B, TRAPPC9, TRAPPC11 genleri ile ilişkili olan olguların klinik ve moleküler sonuçları
ASLANGER A. D., YÜCESAN E., GÖNCÜ B. S., YEŞİL G.
14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", Turkey, 20 November 2020, vol.31, (Summary Text)
2020
2020Dirençli epilepsi olgularında atlanmaması gereken bir tanı: Konjenital glikozilasyon defektleri
Yıldırım B. T., Aslanger A. D., Şengenç E., Karaca M., Selamioğlu A., Yeşil Sayın G.
14. Ulusal Tıbbi Genetik Kongresi, Ankara, Turkey, 20 - 22 November 2020, pp.76, (Summary Text)
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, (Summary Text)
2020
2020Nadir Ayme-Grip Sendromu Olgusu- Vaka sunumu ve litratür taraması
hacer demirbilek ö., GÜLEÇ Ç., ASLANGER A. D., YEŞİL SAYIN G.
14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", 20 November 2020, vol.31, (Summary Text)
2020
2020DEMİR TEDAVİSİNE DİRENÇLİ DEMİR EKSİKLİĞİ ANEMİSİ:IRIDA
Akay N., Tuna R., Durak Ö., Yeşil Sayın G., Karakaş Z.
42.Pediatri Günleri, İstanbul, Turkey, 13 - 16 September 2020, pp.47-48, (Summary Text)
2020
2020Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy
YÜCESAN E., Göncü B., ASLANGER A. D., Hasanoğlu S., YEŞİL SAYIN G.
European Human Genetics Conference, 6 - 09 June 2020
2020
2020Follow-up findings and genotype-phenotype correlation in 18 Turkish patients with biallelic mutation in the FKBP10 gene
YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., YEŞİL SAYIN G., TOKSOY G., UYGUNER Z. O., TÜYSÜZ B.
European Human Genetics Virtual Conference ESHG 2020, Austria, 6 - 09 June 2020, (Summary Text)
2019
2019Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) with a novel PIGA mutation
Gulec Z. E. K., Gulec Z. E. K., Yesil G., Yesil G., Onal H., Onal H., et al.
5th Congress of the European-Academy-of-Neurology (EAN), Oslo, Norway, 29 June - 02 July 2019, vol.26, pp.700, (Summary Text)
2018
2018Distinct phenotypes within TRPV4-associated disorders in the infantile period
Tuysuz B., Gunes N., Yesil G., Ozer E., Uludag-Alkaya D., Pehlivan D., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.132, (Summary Text)
2018
2018Ataksi Telenjiektazi Hastalarının Ebeveynlerinde Enfeksiyonlar ve Lenfosit Alt Grup Bozuklukları
ÖĞÜLÜR İ., Ertüzün T., ÖZEN A. O., UYAR E., KIYKIM A., Başer D., et al.
XXV. Ulusal Allerji ve Klinik İmmünoloji Kongresi, Antalya, Turkey, 17 - 21 November 2018, (Full Text)
2018
2018INFECTIONS AND LYMPHOCYTE SUBSET ALTERATIONS IN ATAXIA TELANGIECTASIA MUTATED KINASE CARRIERS
ÖĞÜLÜR İ., Ertüzün T., ÖZEN A. O., UYAR E., KIYKIM A., Başer D., et al.
18th Biennial Meeting of ESID, Lizbon, Portugal, 24 - 27 October 2018, (Summary Text)
2017
2017Phenotypic and Molecular Characterization of Cockayne Syndrome; A Spotlight to Mild Cases
Yesil G., Akyuz E., Gunes N., Lessel D., Kubisch C., Tuysuz B.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.406-407, (Summary Text)
2017
2017A Case With Rubinstein-Taybi Syndrome: A Novel Frameshift Mutation in CREBBP Gene
Eser M., Ayaz A., Yesil G.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.961, (Summary Text)
2017
2017Follow up four cerebrotendinous xanthomatosis patients; importance of early diagnosis and treatment
Duman N., Akyuz E., Geckinli B., Zubarioglu T., Yesil G.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.886, (Summary Text)
2017
2017The phenotype-genotype correlation of RASopathies in 33 patients from Turkey
Alkaya D. U., Yesil G., Lissewski C., Gunes N., Zenker M., Tuysuz B.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.249, (Summary Text)
2017
2017Oligodonti Olgusunun Genetik İncelenmesi ve İmmediat Protez Uygulaması: Olgu Sunumu
ŞENEL Ş. N., YEŞİL G., ÖZCAN İ.
TDB 23. Uluslar arası Diş Hekimliği Kongresi, 21 - 24 September 2017, (Summary Text)
2017
2017Oligodonti Olgusunun Genetik İncelenmesi ve İmmediat Protez Uygulaması: Olgu Sunumu
ŞENEL Ş. N., Yeşil G., ÖZCAN İ.
TDB 23. Uluslar arası Diş Hekimliği Kongresi, İstanbul, Turkey, 21 - 24 September 2017, pp.339, (Full Text)
2017
2017Evaluation of Clinical, Genetical, and Steroid Profile Features of Cases with 3Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency
GÜRAN T., KARA C., ATAY Z., AKBARZADE A., YILMAZ G., ÇELEBİ BİTKİN E., et al.
American Association of Clinical Chemistry Congress, 30 July - 03 August 2017
2017
2017Clinical and molecular genetic findings of a patient with fucosidosis: A case report
ÖZCAN F., YEŞİL G., ÖZCAN İ., ŞENEL Ş. N.
23rd Global Dentists and Pediatric Dentistry Annual Meeting, 17 - 18 July 2017, (Summary Text)
2017
2017Clinical and molecular genetic findings of a patient with fucosidosis: A Case report
ÖZCAN F., Yeşil G., ÖZCAN İ., ŞENEL Ş. N.
23rd Global Dentists and Pediatric Dentistry Annual Meeting, Münih, Germany, 17 - 18 July 2017, vol.7, no.7, pp.64, (Full Text)
2017
2017Treatment of epilepsy of infancy with migrating focal seizures
ÜNVER O., YEŞİL G., ÖZGEN Z., SAĞER S. G., ÖZTÜRK THOMAS G., KUTLUBAY B., et al.
12th European congress of pediatric neurology, 20 - 24 June 2017, (Summary Text)
2017
2017Phenotypic and Molecular Characterization of Cockayne Syndrome A Spotlight to Mild Cases
YEŞİL G., GÜNEŞ N., Akyüz E., Lesser D., Kublach C., TÜYSÜZ B.
ESHG, 27 - 30 May 2017, (Summary Text)
2017
2017The phenotype-genotype correlation of RASopathies: 33 patients from Turkey
TÜYSÜZ B., YEŞİL G., ULUDAĞ ALKAYA D., GÜNEŞ N., Zenker M.
ESHG, 27 - 30 May 2017
2017
2017Yenidoğan başlangıçlı, ancak nispeten hafif seyirli nonketotik hiperglisinemi vakası
CESUR Y., TAŞ İ., YEŞİL G., BAYRAKTAR B.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1, (Full Text)
2017
2017Tiroid hormone direnci olan iki olgu
CESUR Y., KUTLU E., ÖZGEN İ. T., YEŞİL G.
XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 April 2017, pp.237, (Full Text)
2017
201746XY Cinsel Gelişim Bozukluğunun Nadir Nedeni: 17?-hidroksilaz Eksikliği
CESUR Y., ÖZGEN İ. T., KUTLU E., YEŞİL G.
XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 26 April 2017, pp.121, (Full Text)
2017
2017Ağır MTHFR Eksikliği Tanısında Metiyonin Düşüklüğünün Önemi
TAŞ İ., CESUR Y., UZUNER S., YEŞİL G.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, no.57, pp.48-49, (Full Text)
2017
2017Yeni mutasyon tespit edilen Sandhof Hastalığı vakası
CESUR Y., TAŞ İ., YEŞİL G., İŞCAN A.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1, (Full Text)
2017
2017Glutarik Asidüri Tip 2C’de Koenzim Q10 Eksikliği
CESUR Y., YEŞİL G., TAŞ İ., UZUNER S.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1, (Full Text)
2017
2017Piruvat dehidrogenaz eksikliğinin nadir bir alt tipi - Tiamin metabolizma disfonksiyon sendrom 5 (epizodik ensefalopati tipi)
CESUR Y., YEŞİL G., TAŞ İ., İŞCAN A.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 April 2017, pp.1
2017
2017Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats
AKYÜZ E., MEGA TİBER P., YEŞİL G.
Rhythm Congress, 2 - 03 March 2017, (Summary Text)
2017
2017Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats
AKYÜZ E., MEGA TİBER P., YEŞİL G.
Rhythm Congress, 2 - 03 March 2017
2017
2017Sendromik veya İzole Kraniyosinostoz Öntanıları Olan Olgularda Saptanan FGFR2 Gen Mutasyonları
CEYLAN E. İ., ECE SOLMAZ A., ONAY H., AYKUT A., DURMAZ A., YEŞİL G., et al.
2. Ege Endokrin Hastalıkları ve Genetik Sempozyum, Turkey, 23 - 25 February 2017, (Summary Text)
2016
2016Normokalsemik seyreden psödohipoparatiroidi tip 1A
ÖZGEN İ. T., KUTLU E., YEŞİL G., CESUR Y., DUMAN N.
XX. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 05 October 2016, pp.85, (Full Text)
2016
2016Laron sendromu
KUTLU E., ÖZGEN İ. T., YEŞİL G., OĞUR M., CESUR Y.
XX. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 05 October 2016, pp.28, (Full Text)
2016
2016Deneysel epilepsi modelinde kalpte bulunan içeri doğrultucu potasyum kanallarının gen ekspresyonlarının incelenmesi
AKYÜZ E., AKBAŞ F., ERCAN Ç., YEŞİL G.
XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 05 September 2016, pp.1
2016
2016Oral and clinical findings of patients Alpha Thalassemia: 2 cases reports
ÖZCAN F., Yeşil G., ŞENEL Ş. N., ÖZCAN İ.
PDAA 2016- 10th Biennial Conference of the Pediatric Dentistry Association of Asia, Tokyo, Japan, 26 - 28 May 2016, pp.308, (Full Text)
2016
2016Clinical findings and molecular genetic diagnostic of a patient with Treacher Collins Syndrome: a case report
ÖZCAN İ., Yeşil G., ŞENEL Ş. N.
PDAA 2016- 10th Biennial Conference of the Pediatric Dentistry Association of Asia, Tokyo, Japan, 26 - 28 May 2016, pp.308, (Full Text)
2016
2016Enzim Tedavisi Başlanan Morquio A Sendromlu Üç Vaka
CESUR Y., TAŞ İ., YEŞİL G.
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Muğla, Turkey, 14 April 2016, (Full Text)
2015
2015Prematür Over Yetmezliği Tanısı Alan Kadınlarda Genetik Analiz Sonuçları
ATEŞ S., ÖZCAN P., YEŞİL G.
V. Üreme Tıbbı ve Cerrahisi Derneği Kongresi, Antalya, Turkey, 28 - 31 May 2015
2014
2014Genomic Sequencing Approaches Indentifies Novel Rare Variants in Patients with Mendelian Neurologic Disease
ENDER K., PEHLİVAN D., TA H., SM W., HM S., GAMBIN T., et al.
american society of human genetics, 18 - 22 October 2014
2013
2013Prematür Ovarian Yetmezliği olan 181 kadında sitogenetik analiz sonuçları
GEÇKİNLİ B. B., TOKSOY G., Sayar C., YEŞİL SAYIN G., KARAMAN A., AYDIN H., et al.
Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu 2013, İstanbul, Turkey, 6 - 07 December 2013, vol.1, (Summary Text)
2013
2013Prematür Ovarian Yetmezliği olan kadında sitogenetik analiz sonuçları
Geçkinli B. B., Toksoy G., Sayar C., Yeşil G., Karaman A., Aydın H., et al.
Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu, 2013, İstanbul, Turkey, 6 - 07 December 2013, vol.1, no.1, pp.30, (Summary Text)
2013
2013Kraniyofasiyal Cerrahi Ekibinin Kuruluşu ve İşleyişi
YILDIZ K., GÜNDAĞ PAPAKER M., CANTER H. İ., ARALAŞMAK A., İŞCAN A., YEŞİL G., et al.
Türk Plastik Rekonstrüktif ve Estetik Cerrahi Derneği 35. Ulusal Kurultayı, Turkey, 28 - 31 October 2013
2013
2013Kraniyofasiyal cerrahi deneyimlerimiz
YILDIZ K., GÜNDAĞ PAPAKER M., CANTER H. İ., ARALAŞMAK A., İŞCAN A., YEŞİL G., et al.
Türk Plastik Rekonstrüktif ve Estetik Cerrahi Derneği 35. Kurultayı, Turkey, 28 - 31 October 2013
2012
2012Fetal karyotiplemede saptanan mozaik yapısal kromozom anomalisi ve oluşum mekanizması
TOKSOY G., Sayar C., Turkover B., Sahinoglu Z., YEŞİL SAYIN G., BAŞARAN S.
10.Ulusal Tıbbi Genetik Kongresi, Bursa, Turkey, 19 December 2012, pp.34, (Summary Text)
2012
2012Otozomal resesif brakiolmia: Yeni bir PAPSS2 mutasyonu saptanan olgu sunumu
YEŞİL G., ÖZGEN İ. T., CESUR Y., ALANAY Y.
XIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Samsun, Turkey, 08 November 2012, pp.36, (Full Text)
2012
2012Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)
Toksoy G., Yeşil Sayın G., Sayar C.
European Human Genetics Conference 2012, Nuremberg, Germany, 23 - 26 June 2012, vol.20, no.1, pp.121, (Summary Text)
2010
2010A Case Report With A Rare 8p Duplication
Yeşil G., Sayar C., Toksoy G., Türköver B. B., Duman N., Demir Ü., et al.
9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text)
2010
2010A Case With Terminal Deletion On Long Arm Of Chromosome 1
Sayar C., Toksoy G., Laleli Şahin E., Türköver B. B., Duman N., Yeşil G., et al.
9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.36-37, (Summary Text)
2010
2010A Case With Duplication 2q
Toksoy G., Türköver B. B., Laleli Şahin E., Yeşil G., Sayar C., Duman N., et al.
. 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text)
2010
2010Identification Of 18q12.2-q21.1 Deletion : A case Report
DUMAN N., TOKSOY G., LALELİ Ş., Sayar C., TÜRKÖVER B., YEŞİL SAYIN G., et al.
9th National Medical Genetics Congress of Turkish Medical Society with international Participation, Turkey, 1 - 05 December 2010, vol.78, pp.37, (Summary Text)
Books
2023
2023ERCC6L2 ile İlişkili Kalıtsal Kemik İliği Yetmezliği Sendromu
ŞAHİN Ş., TUĞCU D., BİLİCİ M., YEŞİL SAYIN G., ÜNÜVAR A., KARAMAN S., et al.
in: OLGULARLA KEMİK İLİĞİ YETMEZLİKLERİ, ŞULE ÜNAL CANGÜL, DİDEM ATAY, TURAN BAYHAN, YUSUF ZİYA ARAL, Editor, GALENOS, İstanbul, pp.62-63, 2023
2023
2023ERCC6L2 ile Ilişkili Konjenital Kemik İliği Yetmezliği Sendromu
ŞAHİN Ş., TUĞCU D., BİLİCİ M., YEŞİL SAYIN G., ÜNÜVAR A., KARAMAN S., et al.
in: Olgularla Kemik İliği Yetmezlikleri, Sule Ünal, Didem Atay, Turan Bayhan, Yusuf Ziya Aral, Editor, Galenos YAYINEVİ, İstanbul, pp.61-62, 2023
2022
2022Bölüm 32-Nörogenetik Hastalık için Genetik Paneller
Yeşil Sayın G.
in: Klinisyenler için Genetik Testler, Şükrü Öztürk, Editor, EMA tıp Kitapevi, İstanbul, pp.421-425, 2022
2021
2021BÖLÜM 4.2.5 Boy Kısalığı ile Giden Sendromlar
Yeşil Sayın G., Özgen İ. T.
in: Çocuk Endokrinolojisi ve Diyabet, rof. Dr. Feyza Darandeliler,Prof. Dr. Zehra Aycan,Prof. Dr. Cengiz Kara,Doç. Dr. Samim Özen,Doç. Dr. Erdal Eren, Editor, ISTANBUL TIP KITAPEVİ, İstanbul, pp.236-250, 2021
Funded Projects
2022 - Continues
2022 - ContinuesDinamik mutasyon hastalıkları için moleküler genetik tanı kitlerinin geliştirilmesi
Project Supported by Higher Education Institutions
UYGUNER Z. O. (Executive), PARMAN F. Y., TÜYSÜZ B., KARA B., AKÇAYA N. H., YEŞİL SAYIN G., et al.
2021 - Present
2021 - PresentYeni Nesil Dizileme Tekniği İle Ani Ölüm Riski Yüksek Olan Nöro-Kardiyolojik Kanalopatilerin Moleküler Patogenezinin Araştırılması
Project Supported by Higher Education Institutions
BAYRAK A. E. (Executive), ASLANGER A. D., DİNDAR A., TOPALOĞLU P., YEŞİL SAYIN G., TOKSOY G., et al.
2023 - 2025
2023 - 2025Mikobakteriyel Enfeksiyona Mendeliyen Yatkınlığın Genetik Etiyolojisi ve İlgili Gen Varyantlarının İmmünopatogenezdeki Rollerinin Belirlenmesi
Emergency R&D Project of Group A
(Project Abstract)
Aslanger A. D., Bayrak A. E., Yeşil Sayın G., Yücel E., Toksoy G., Karacan A.(Executive)
2020 - 2025
2020 - 2025Horizon Baby Porject for Rare Disease Diagnosis by Using Newborn Screening and Digital Technologies
H2020 Project
Yeşil Sayın G., Atalar F., Gökçay G. F. (Executive), Balcı M. C.
2022 - 2023
2022 - 2023Prenatal Dönemde Holoprozensefali Saptanan Olgularda Genetik Etiyopatogenezin Yeni Nesil Dizileme Yöntemi İle Araştırılması
Project Supported by Higher Education Institutions
YEŞİL SAYIN G. (Executive), HACER DEMİRBİLEK Ö.
2022 - 2023
2022 - 2023Büyümede Yakalama Yapamayan Gestasyon Yaşına Göre Düşük Doğum Ağırlıklı (SGA) Çocuklarda Boy Kısalığı Etiyolojisinin Araştırılması
Project Supported by Higher Education Institutions
BAŞ F. (Executive), ASLANGER A. D., KARAMAN V., TOKSOY G., YEŞİL SAYIN G., KARAMAN B., et al.
2021 - 2023
2021 - 2023Tıbbi Genetik Anabilim Dalında Değerlendirilen Olguların Retrospektif Analizi
Project Supported by Higher Education Institutions
YEŞİL SAYIN G. (Executive), GÜLEÇ Ç., ASLANGER A. D., SALMAN S. B., DURMAZ D., TOKSOY G., et al.
2021 - 2023
2021 - 2023Fenilketonüri, Fruktoz 1-6bifosfataz eksikliği, Herediter Fruktoz İntoleransı, Galaktozemi, Krabbe ve Propiyonik Asidemi hastalığına sahip olgularda büyük delesyon ve duplikasyon tipi mutasyonlarının dışlanması
Project Supported by Higher Education Institutions
ASLANGER A. D. (Executive), GEDİKBAŞI A., YEŞİL SAYIN G., TOKSOY G., UYGUNER Z. O., YAVUZ B. T., et al.
2021 - 2023
2021 - 2023Tüm Genom Dizileme Yönteminin Genetik Hastalıkların Tanısına Katkısı
Project Supported by Higher Education Institutions
YEŞİL SAYIN G. (Executive), GÜLAÇAR İ. M.
2021 - 2022
2021 - 2022Fetal Dönemde Kontraktürler ile Seyreden Sendromların Moleküler Etiyopatogenezinin Yeni Nesil Dizileme Yöntemleri ile Araştırılması
Project Supported by Higher Education Institutions
YEŞİL SAYIN G. (Executive), TURGUT G. T.
2020 - 2022
2020 - 2022
COVİD19 Tanısı Alan Hastalarda Genetik Farklılıkların Klinik Parametrelerle Karşılaştırılarak Prognoza Etkisinin Araştırılması
Project Supported by Higher Education Institutions
(Project Final Report)
YEŞİL SAYIN G. (Executive), PEHLİVAN S., KÖSE M., OYACI Y., İŞOĞLU Ü., ŞENKAL N., et al.
2019 - 2021
2019 - 2021TRAPPopati ilişkili novel bir varyantın fonksiyonel karakterizasyonu (TRAPPC9)
Project Supported by Higher Education Institutions
Yücesan E., Yeşil G., Göncü B. S.(Executive), Aslanger A. D.
2018 - 2021
2018 - 2021A PHASE 2, RANDOMİZED, DOUBLE-BLİND, PLACEBO CONTROLLED EFFİCACY AND SAFETY STUDY OF PALOVAROTENE İN SUBJECTS WİTH MULTİPLE OSTEOCHONDROMAS
Project Supported by Private Organizations in Other Countries
Yeşil G., Shıh F. F.(Executive)
2019 - 2020
2019 - 2020A PRELİMİNARY STUDY TO İNVESTİGATE THE GENETİC MAKEUP OF RECCURENT GLIOBLASTOMA VİA HİGH TROUGHPUT NEXT GENERATION WHOLE EXOME SEQUENCING
Project Supported by Private Organizations in Other Countries
Yeşil G.
2019 - 2019
2019 - 2019Nadir nörolojik hastalıklarla ile ilişkili aday genlerden KCNMA1 ve CACNA1H’deki varyantların patch-clamp yöntemi ile fonksiyonel karakterizasyonu
Project Supported by Higher Education Institutions
Yücesan E., Yeşil G. (Executive), GÖNCÜ B. S.
2016 - 2018
2016 - 2018Erken infantil epileptik ensefalopatide mutasyonların belirlenmesi
Project Supported by Higher Education Institutions
Yeşil G.
Activities in Scientific Journals
2021 - Continues
2021 - ContinuesBmc Pediatrics
Committee Member
Memberships and Roles in Scientific Organizations
2019 - 2021
2019 - 2021tıbbi genetik derneği
Secretary General
Roles in Event Organizations
November 2020
November 202014. ULUSAL TIBBİ GENETİK KONGRESİ
Scientific Congress
Uyguner Z. O., YEŞİL SAYIN G.
Turkey
Ekim 2019
Ekim 20192. Genetikte Güncel Tedaviler Sempozyumu
Scientific Congress
Yeşil Sayın G.
Konya, Turkey
Şubat 2019
Şubat 2019Nadir Hastalıklar Sempozyumu 2011-2019
Scientific Congress
Yeşil G.
İstanbul, Turkey
Mobility Activity
2022 - 2022
2022 - 2022Improving Competencies and Qualifications
Guest Researcher
University College London, England
Awards
November 2021
November 2021
Laboratory and in Silico Analysis of the Pathogenic variant of Interlokin-17 (Rs763780) in Patients Diagnosed with COVID-19»BEST ORAL PRESENTATION THIRD PRIZE
Molecular Aspects Of Human Wellness
February 2019
February 2019KRONİK GRANULOMATÖZ HASTALIKTA AKAN HÜCRE ÖLÇERDE BELİRLENEN NADPH OKSİDAZ ALT ÜNİTELERİNİN GENOİPİ ÖNGÖRMEDE ROLÜ
4. Vı.Marmara Pediatri Kongresi
November 2018
November 2018POSTER BİRİNCİLİĞİ ÖDÜLÜ KABUKİ SENDROMUNDA KMT2D GENİNİN MUTASYON SPEKTRUMU,
Xııı. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi
May 2013
May 2013sözlü sunum birincliği
I.Ulusual Cocuk Genetik Kongresi
March 2009
March 2009en iyi sözlü sunum ödülü
Iv. Dismorfoloji Günleri
Congress and Symposium Activities
20 November 2020 - 22 November 2020
20 November 2020 - 22 November 202014.Ulusal Tıbbi Genetik Kongresi
Session Moderator
Ankara-Turkey
Invited Talks
October 2023
October 2023Asistan Okulu
Seminar
Tıbbi Genetik Derneği-Turkey
April 2022
April 202244.Pediatri Günleri
Conference
İstanbul Üniversitesi-Turkey
February 2022
February 2022NADİR HASTALIKLAR GÜNÜ EĞİTİM TOPLANTISI
Seminar
İstanbul Üniversitesi-Turkey
February 2022
February 20224.Nadir Hastalıklar Sempozyumu
Conference
Biruni Üniversitesi-Turkey
May 2021
May 202143. Pediatri Günleri ve 22. Pediatri Hemşireliği Günleri
Conference
İstanbul Üniversitesi-Turkey
February 2020
February 2020Nadir Hastalıklar Sempozyumu
Conference
Biruni Üniversitesi-Turkey
May 2019
May 2019V. Nadir Görülen Hastalıklar Sempozyumu ve Nörogenetik Kursu
Conference
Türk Nöroloji Derneği-Turkey
April 2019
April 201941.pediatri günleri
Conference
İstanbul Üniversitesi-Turkey
Citations
Total Citations (WOS): 1814
h-index (WOS): 25
Jury Memberships
August-2019
August 2019