Assoc. Prof. Güven TOKSOY

Publication Network

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Akcan N. , Uyguner 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 (Journal Indexed in SCI)

Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood

Yildiz M., Bayram A. , BAŞ F. , Karaman V., TOKSOY G. , Poyrazoglu S., et al.

European journal of endocrinology, vol.187, no.1, 2022 (Journal Indexed in SCI Expanded)

Functional 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 (Journal Indexed in SCI Expanded)

Mutations in <i>AR</i> or <i>SRD5A2</i> 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, 2022 (Journal Indexed in SCI Expanded)

Osteogenesis 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 (Journal Indexed in SCI)

Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey.

Emekli I. , Tepgeç F., Samancı B. , Toksoy G. , Hasanoğulları Kına G., Tüfekçioğlu Z., et al.

Parkinsonism & related disorders, vol.93, pp.35-39, 2021 (Journal Indexed in SCI Expanded)

BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy

Kara B., Uyguner Z. O. , Maraş Genç H., İşlek E. E. , Kasap M., Toksoy G. , et al.

MOLECULAR SYNDROMOLOGY, vol.12, no.6, pp.334-336, 2021 (Journal Indexed in SCI Expanded)

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

Karakilic-Ozturan E. , Altuoglu U., Ozturk A. P. , Toksoy G. , Turgut G. T. , Poyrazoglu S., et al.

HORMONE RESEARCH IN PAEDIATRICS, vol.94, no.SUPPL 1, pp.317, 2021 (Journal Indexed in SCI)

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

Berkay E. G. , Elkanova L., Kalayci T. , ULUDAĞ ALKAYA D., Altunoglu U., Cefle K. , et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021 (Journal Indexed in SCI)

Functional Connectivity Analysis in Heterozygous Glucocerebrosidase Mutation Carriers

Sezgin M. , Kicik A., Bilgic B. , Kurt E. , Bayram A. , Hanagası H. A. , et al.

JOURNAL OF PARKINSONS DISEASE, vol.11, no.2, pp.559-568, 2021 (Journal Indexed in SCI)

Follow-up findings and genotype-phenotype correlation in 18 Turkish patients with biallelic mutation in the FKBP10 gene

Ulker A. Y. , ULUDAĞ ALKAYA D., Yesil G., TOKSOY G. , UYGUNER Z. O. , Tuysuz B.

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.238, 2020 (Journal Indexed in SCI)

Cognition of the mothers of patients with Duchenne muscular dystrophy.

Demirci H., Durmus H. , Toksoy G. , Uslu A. , Parman Y., Hanagasi H. A.

Muscle & nerve, vol.62, no.6, pp.710-716, 2020 (Journal Indexed in SCI Expanded)

Clinical 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 (Journal Indexed in SCI) Sustainable Development

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Yildirim Z. Y. , Toksoy G. , Uyguner O. , Nayir A., Yavuz S., Altunoglu U. , et al.

European journal of medical genetics, vol.63, no.1, pp.103621, 2020 (Journal Indexed in SCI Expanded)

Clinical 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 (Journal Indexed in SCI)

Utilization 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 (Journal Indexed in SCI Expanded)

Mutation 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 : NMD, vol.29, no.8, pp.601-613, 2019 (Journal Indexed in SCI Expanded)

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype

TÜYSÜZ B., ULUDAĞ ALKAYA D., Toksoy G. , Gunes N., Yildirim T., Bayhan I. A. , et al.

GENE, vol.704, pp.59-67, 2019 (Journal Indexed in SCI)

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms.

Bas F. , Abali Z. Y. , Toksoy G. , Poyrazoglu S. , Bundak R., Gulec Ç. , et al.

Hormones (Athens, Greece), vol.17, no.4, pp.581-588, 2018 (Journal Indexed in SCI Expanded)

Pallister-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 (Journal Indexed in SCI)

A 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 (Journal Indexed in SCI Expanded)

Prevalence, 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 (Journal Indexed in SCI)

Copy-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 (Journal Indexed in SCI)

PROKR2 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 (Journal Indexed in SCI)

Clinical, 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 (Journal Indexed in SCI)

Evaluation 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 (Journal Indexed in SCI)

Evaluation 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 (Journal Indexed in SCI)

Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports

UYSAL F., Turkgenc B., Toksoy G. , Bostan O. M. , Evke E., Uyguner O. , et al.

BMC MEDICAL GENETICS, vol.18, 2017 (Journal Indexed in SCI)

PRIMARY COENZYME Q10 DEFICIENCY-6 (COQ10D6): CASE REPORT

Yildirim Z. Y. , Nayir A., Uyguner O., Toksoy G. , Yavuz S., Altunoglu U. , et al.

PEDIATRIC NEPHROLOGY, vol.32, no.9, pp.1763, 2017 (Journal Indexed in SCI)

The 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 (Journal Indexed in SCI)

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

Dinçsoy B., DINÇKAN N., GÜVEN Y. , BAŞ F. , ALTUNOĞLU U. , KUVVETLI S., et al.

European journal of medical genetics, vol.60, pp.163-168, 2017 (Journal Indexed in SCI)

A RARE CAUSE OF CONGENITAL ADRENAL HYPERPLASIA: CLINICAL AND GENETIC FINDINGS AND FOLLOW-UP OF SIX PATIENTS WITH 17 HYDROXYLASE DEFICIENCY

Kardelen A. D. , Bas F. , Toksoy G. , Poyrazoglu Ş. , Bundak R., Altunoglu U., et al.

HORMONE RESEARCH IN PAEDIATRICS, vol.88, pp.429-430, 2017 (Journal Indexed in SCI)

Holt-Oram syndrome because of the novel TBX5 mutation c.481A&gt;C.

Koçak E., ALTUNOĞLU U. , Toksoy G. , KAYSERILI H.

Clinical dysmorphology, vol.25, pp.192-4, 2016 (Journal Indexed in SCI)

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

Uyguner Z. O. , Toksoy G. , Altunoglu U., Ozgur H., Basaran S. , Kayserili H.

European journal of medical genetics, vol.58, pp.358-63, 2015 (Journal Indexed in SCI Expanded)

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

Bas F. , Uyguner Z. O. , Darendeliler F. , Aycan Z., Çetinkaya E., Berberoglu M., et al.

Endocrine, vol.49, no.2, pp.479-91, 2015 (Journal Indexed in SCI Expanded)

Idiopathic angioedema with F12 mutation: is it a new entity?

Gelincik A. , Demir S., Olgac M., Karaman V., Toksoy G. , Colakoglu B., et al.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology, vol.114, no.2, pp.154-6, 2015 (Journal Indexed in SCI Expanded)

Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency

GECKINLI B. B. , GEÇKİNLİ 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 (Journal Indexed in SCI) Sustainable Development

Skull Defects, Alopecia, Hypertelorism, and Notched Alae Nasi Caused by Homozygous ALX4 Gene Mutation

Kariminejad A., Bozorgmehr B., Alizadeh H., Ghaderi-Sohi S., Toksoy G. , Uyguner Z. O. , et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.5, pp.1322-1327, 2014 (Journal Indexed in SCI)

Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family.

UYGUNER Z. O. , KOCAOĞLU M. , TOKSOY G. , Basaran S. , KAYSERILI H.

Molecular syndromology, vol.5, pp.81-6, 2014 (Journal Indexed in SCI Expanded)

Familial 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 (Journal Indexed in SCI)

Left Diaphragmatic Eventration Associated with Ipsilateral Pulmonary Sequestration and Intrathoracic Kidney in a Fetus: Reviewing the Prenatal Diagnosis and Etiopathogenesis

SAHINOGLU Z., Yuksel A. , ULUDOGAN M., BILGIC R., Toksoy G.

FETAL AND PEDIATRIC PATHOLOGY, vol.30, no.4, pp.233-243, 2011 (Journal Indexed in SCI) Sustainable Development

Molecular 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 (Journal Indexed in SCI)

Mutational 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 (Journal Indexed in SCI) Sustainable Development

A report of a patient with duplication of 7p13 -> pter and deletion of 2p23 -> pter due to a maternal 2p;7p translocation

Tuerkover B. B. , Sayar C., Toksoy G. , Elcioglu N.

TURKISH JOURNAL OF PEDIATRICS, vol.51, pp.174-179, 2009 (Journal Indexed in SCI)

Prenatal ultrasonographical features of limb body wall complex: A review of etiopathogenesis and a new classification

SAHINOGLU Z., ULUDOGAN M., ARIK H., AYDIN A., KUCUKBAS M., BILGIC R., et al.

FETAL AND PEDIATRIC PATHOLOGY, vol.26, no.3, pp.135-151, 2007 (Journal Indexed in SCI)

The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.

Karaman B., Aytan M., Yilmaz K., Toksoy G. , Onal E. P. , Ghanbari A., et al.

European journal of medical genetics, vol.49, no.3, pp.207-14, 2006 (Journal Indexed in SCI Expanded)

Pineal germinoma associated with multiple congenital melanocytic nevi: A unique presentation

Aker F., Berkman Z., Aydingoz I., Hakan T., Toksoy G.

NEUROPATHOLOGY, vol.25, no.4, pp.336-340, 2005 (Journal Indexed in SCI)

Second trimester choroid plexus cysts and trisomy 18

SAHINOGLU Z., ULUDOGAN M., SAYAR C., TURKOVER B., Toksoy G.

INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS, vol.85, no.1, pp.24-29, 2004 (Journal Indexed in SCI) Sustainable Development

The 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 (Journal Indexed in SCI)

Identification of de novo structural chromosome abnormalities using "Chromoprobe Multiprobe" slide technique

Toksoy G. , Aytan M., Kili G., Karaman B., Basaran S. , Apak M.

CYTOGENETICS AND CELL GENETICS, vol.85, pp.44, 1999 (Journal Indexed in SCI)

Articles Published in Other Journals

INTER-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, 2022 (Journal Indexed in ESCI)

Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Rüstemoğlu B. S. , Samancı B. , Tepgeç F., Kürtüncü M. , Altunoğlu U., Gündüz T. , et al.

Turkish Journal of Neurology, vol.27, no. 27(3), pp.240-247, 2021 (Journal Indexed in ESCI)

NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ

TOKSOY G. , TEPGEÇ F., SARAÇ SİVRİKOZ T. , KALELİOĞLU İ. H. , DEMİR S., HAS R. , et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.84, no.1, pp.34-39, 2021 (Journal Indexed in ESCI)

CHANGES 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 (Journal Indexed in ESCI)

Array-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 (National Refreed University Journal)

MOLECULAR 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 (Journal Indexed in ESCI)

SENDROMİK VE NON-SENDROMİK KRANİYOSİNOSTOZ OLGULARINDA FGFR1-3, TWIST1, MSX2, POR, FREM1 VE RAB23 GENLERİNİN MOLEKÜLER ANALİZİ

Karaman V. , TOKSOY G. , KARAMAN B., KAYSERİLİ KARABEY H. , BAŞARAN S. , ALTUNOĞLU U. , et al.

İSTANBUL TIP FAKÜLTESİ DERGİSİ, vol.82, no.2, pp.9-10, 2019 (National Refreed University Journal)

NORMAL KARYOTİPLİ PATOLOJİK ULTRASON BULGUSU OLAN FETUSLARDA MLPA (MULTİPLEX LİGATİON-DEPENDENT PROBE AMPLİFİCATİON) UYGULAMALARI

TOKSOY G. , KARAMAN B., UYGUNER Z. O. , YILMAZ K. , HAS R. , KAYSERİLİ H., et al.

İstanbul Tıp Dergisi, vol.82, no.1, pp.2-3, 2019 (National Refreed University Journal)

APPLICATION 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 (Journal Indexed in ESCI)

Clinical 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 (Journal Indexed in ESCI)

A Case of Fibrodysplasia Ossificans Progressiva in a 5-year-old Boy withall Musculoskeletal Features and Review of the Literature

Civan M., BİLGİLİ F. , KILIÇ A. , UYGUNER Z. O. , TOKSOY G.

JOURNAL OF ORTHOPAEDIC CASE REPORTS, vol.8, pp.36-39, 2018 (Refereed Journals of Other Institutions)

CLINICAL 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 (Journal Indexed in ESCI)

Interstitial Deletion 4q due to a Complex Rearrangement Involving Chromosomes 1, 2, 4, 8, 14 and 16

Toksoy G. , Rothlisberger B., Turkover B., Sayar C., Huber A. R. , Miny P.

GAZI MEDICAL JOURNAL, vol.29, no.3, pp.256-260, 2018 (Journal Indexed in ESCI)

Refereed Congress / Symposium Publications in Proceedings

Diagnostic 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

Türkiye’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 Sustainable Development

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

KARAKILIÇ ÖZTURAN E. , ALTUNOĞLU U., ÖZTÜRK A. P. , TOKSOY G. , TUTKU TURGUT G., POYRAZOĞLU Ş. , et al.

59th Annual ESPE (ESPE 2021 Online), 22 - 23 September 2021, vol.94, pp.277

MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları

Kalaycı T. , Aslanger A. D. , Altunoğlu U., Toksoy G. , Konur E. N. , Avcı Ş., et al.

14. TIBBİ GENETİK KONGRESİ, 20 - 22 December 2020, vol.31, no.4, pp.53

Nadir 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

Mitokondriyal Hastalıklara Bütünsel Yaklaşım: Beş Aile Örneği

Gedikbaşı A. , Toksoy G. , Karaca M. , Balcı M. C. , Güleç Ç. , Karaman B. , et al.

14. Ulusal Tıbbi Genetik Kongresi, İstanbul, Turkey, 20 - 22 December 2020, pp.45

Alport sendromlu 15 olgunun klinik ve moleküler bulguları

Aslanger A. D. , Yürük Yıldırım Z. N. , Toksoy G. , Aksu B. , Durmaz D. , Göksu Çetinkaya A. P. , et al.

14. TIBBİ GENETİK KONGRESİ, İstanbul, Turkey, 20 - 22 December 2020, vol.31, no.4, pp.49

A 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

Sebebi Açıklanamayan Tekrarlayan Gebelik Kaybı ve Tekrarlayan İmplantasyon Defekti Olgularında Etiyolojinin Açıklanmasına Yönelik Yeni Yolaklar ve Genler

Berkay E. G. , Toksoy G. , Güleç Ç. , Uyguner Z. O. , Başaran S.

14. ULUSAL TIBBİ GENETİK KONGRESİ, Ankara, Turkey, 20 - 22 November 2020, vol.1, no.1, pp.11

SOFT Sendromu Tanılı Olgularımızda Çok Yüksek IGF1 Düzeyleri Ve Ağır İnsülin Direnci Birlikteliği İle Büyüme Hormonu Tedavisine Yanıtın Değerlendirilmesi

Karakılıç Özturan E. , Altunoğlu U., Toksoy G. , Öztürk A. P. , Kardelen Al A. D. , Turgut G. T. , et al.

XXIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Çevrimiçi Kongresi , 30 October - 01 November 2020, pp.1-2

A 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

Clinical phenotype and genotype association in patients with 21-hydroxylase deficiency

Aghayeva A., Turan H., Toksoy G. , Dagdeviren Cakir A., Berkay E., Güneş N., et al.

58th Annuel Meeting of the European Society for Paediatric Endocrinology /ESPE), Vienna, Austria, 19 - 21 September 2019, vol.1, no.1, pp.361

Genotype-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 Sustainable Development

Genetic Evaluation of Idiopathic Short Stature

Karaman B. , Baş F. , Najaflı A., Şahin A., Toksoy G. , Darendeliler F., et al.

European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, 19 - 21 September 2019, pp.323

Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46,XY Disorders of Sex Development.

Aghayeva A., Turan H., Toksoy G. , Dağdeviren Çakır A., Berkay E., Güneş N., et al.

58th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, 19 - 21 September 2019, vol.91, no.1, pp.361

Novel variants in DHH gene identified with 46,XY gonadal dysgenesis

Aghayev A., Toksoy G. , Poyrazoglu S., 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, vol.27, pp.1250-1251

Pre-perinatal dönemde ayırıcı tanıda osteogenezis imperfekta düşünülen olgularda yeni nesil dizilemenin kesin tanıya katkısı

Şentürk L., Altunoğlu U., Güleç Ç. , Toksoy G. , Tüysüz B., Uludağ Alkaya D., et al.

4. Ulusal Çocuk Genetik Kongresi, Ankara, Turkey, 25 - 27 September 2019, pp.28

The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

Öztürk A. P. , Altunoğlu U. , Toksoy G. , Karakılıç Özturan E. , Poyrazoğlu Ş. , Baş F. , et al.

58th Annual Meeting of European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, 19 - 21 September 2019, vol.1, no.1, pp.452

Diagnostic contribution of in house designed next generation sequencing panel gene test for Disorders of Sexual Development from Turkey

Aghayev A., Toksoy G. , Poyrazoglu S. , Karaman B., Avci S., Abali Z. Y. , 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.79-80

Assesment of candidate genes in patients with frontotemporal lobar degeneration spectrum: preliminary findings

Artan S., Erzurumluoglu E., Cilingir O., Adapinar B. D. O. , Tepgec F., Bas H., et al.

Nephrotic Syndrome and Genetics

Toksoy G.

Erciyes Medical Genetics Days 2019, Kayseri, Turkey, 21 - 23 February 2019, vol.41, no.1, pp.5

3M Sendromlu iki oılguda CUL7 geninde saptanan üç yeni varyant

Güleç Ç. , Altunoğlu U., Gedikbaşı A. , Avcı Ş., Toksoy G. , Uyguner Z. O. , et al.

13. “Uluslararası Katılımlı” Ulusal Tıbbi Genetik Kongresi., Antalya, Turkey, 7 - 11 November 2018, vol.1, no.1, pp.272

Tüm Ekzom Dizilemenin Zayıf Noktaları

Toksoy G.

13. “Uluslararası Katılımlı” Ulusal Tıbbi Genetik Kongresi. , Antalya, Turkey, 7 - 11 November 2018, vol.1, no.1, pp.31

Patolojik ultrason bulgulu fetuslarda PTPN11 gen analiz sonuçları

Toksoy G.

Türkiye Maternal Tıp ve Perinatoloji Derneği XI. Ulusal Kongresi., İstanbul, Turkey, 31 October - 03 November 2018, vol.1, no.1, pp.1

Mutation spectrum of Fanconi anemia associated genes in eleven patients from Turkey

Uyguner Z., Toksoy G. , Alkaya D. U. , Aghayev A., Celkan T., Basaran S., et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.468-469

Clinical and molecular findings in Turkish patients with MPS IV

Tuysuz B., Alkaya D. U. , Toksoy G. , Gunes N., Uyguner Z.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.300

32 novel pathogenic sequence variants in 253 DMD/BMD patients from Turkey

Toksoy G. , Aghayev A., Bagirova G., Tekce H. D. , Avci S., Altunolu U., et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.428-429

Moleküler sitogenetik tanı deneyimleri

Toksoy G.

Kişiselleştirilmiş Tıp ve Moleküler Tanı Sempozyumu ve Biyoinformatik Analizlerin Simülasyon Kursu, İstanbul, Turkey, 31 October - 03 November 2018, vol.1, no.1, pp.18

Evaluation 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

GALT mutation spectrum including four novel alterations in Turkish Cases With Galactosemia

Kalay İ., Balcı M. C. , Güleç Ç. , Avcı Ş., Toksoy G. , Gökçay G. F. , et al.

Erciyes Medical Genetics Days 2018, Kayseri, Turkey, 7 - 10 March 2018, vol.1, no.1, pp.46

Genetic Investigation in Parkinson Disease.

Tepgeç F., Bilgiç B. , Toksoy G. , Demirtaş Tatlıdere A., Tüfekçioğlu Z., Şahin İ., et al.

Erciyes Medical Genetics Days 2018, Kayseri, Turkey, 7 - 10 March 2018, vol.1, no.1, pp.52

Molecular Genetic diagnostıc efficiency of targeted next generation sequencing on “disorders of sex development

Toksoy G. , Agayev A., Poyrazoğlu Ş. , Avcı Ş., Karaman B. , Yavaş Abalı Z., et al.

Erciyes Medical Genetics Days 2018, Kayseri, Turkey, 7 - 10 March 2018, vol.1, no.1, pp.51

PrimerKoenzim Q10 eksikliği-6 (COQ10D6), Olgu Sunumu

Yürük Yıldırım Z. N. , Nayır A. N. , Uyguner Z. O. , Toksoy G. , Yavuz S., Altunoğlu U. , et al.

4. Çocuk Nefroloji Olgu Panayırı, İzmir, Turkey, 3 - 04 November 2017, pp.4

The 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

Nadir görülen konjenital adrenal hiperplazi nedeni: 17-hidroksilaz eksikliği tanılı vakalarımızın klinik ve genetik bulguları, izlem özellikleri.

Toksoy G.

XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, 2017, Antalya, Turkey, 26 - 30 April 2017, vol.1, no.1, pp.61

. Duchenne/Becker Müsküler Distrofi' sinden etkilenmiş olgularda DMD gen mutasyonlarının MLPA ve yeni nesil dizileme teknolojisi ile araştırılması.

Toksoy G.

XII. Tıbbi Genetik Kongresi 2016, İzmir, Turkey, 5 - 09 October 2016, vol.2, no.1, pp.125

Klinik NGS Uygulamalarında Ion Torrent

Toksoy G.

5. Next Generation Sequencing Hibrid Kurs , İstanbul, Turkey, 4 - 07 May 2016, vol.1, no.1, pp.1

Nonklasik konjenital adrenal hiperplazi hastalarının genotip ve fenotip özellikleri

Abalı S., Akcan N., Toksoy G. , Baş F. , Güran T., Atay Z., et al.

38. Pediatri Günleri ve 17. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 3 - 06 April 2016, vol.1, no.1, pp.95

Fanconi Anemisi olgularda ilişkili genlerin yeni nesil dizileme teknolojisi ile araştırılması

Bagirova G., Toksoy G. , Uyguner Z. O. , Başaran S. , Avcı Ş., Altunoğlu U., et al.

3. Metabolik Dismorfolojiş Sempozyumu, İstanbul, Turkey, 10 - 12 March 2016, vol.1, no.1, pp.65

Erken Başalayan Alzheimer Hastalığında PSEN1 ve APP Gen Mutasyonlarının Araştırılması

Tepgeç F., Bilgiç B. , Toksoy G. , Demirtaş Tatlıdede A., Tüfekçioğlıu Z., Hanağası H. A. , et al.

Uluslararası katkılı ‘Gevher Nesibe Günleri' 2016, Kayseri, Turkey, 11 - 13 February 2016, vol.38, no.1, pp.36

The evaluation of AR and SRD5A2 gene mutations in 87 patients with 46, XY DSD children in Turkey

Akcan N., Toksoy G. , Uyguner Z. O. , Saka N., Altunoğlu U., Yavaş Abalı Z., et al.

54th Annual Meeting of the ESPE, Barcelona, Spain, 01 October 2015 - 03 October 2019, vol.84, no.1, pp.203

CYP11B1 gene mutations in patients congenital adrenal hyperplasia in Turkey

Baş F. , Ergun-Longmire B., Saka N., Toksoy G. , Uyguner Z. O. , Poyrazoğlu Ş. , et al.

54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Barcelona, Spain, 30 September - 03 October 2015, vol.84, no.1, pp.315

Homozygous and Compound Hetrozygous Mutation in 3 Turkish Family with Jervell and Lange-Nielsen Syndrome

Temel Ş. G. , Toksoy G. , Uysal F., Bostan O., Evke E., Uyguner Z. O. , et al.

European Human Genetics Conference 2015, Glasgow, United Kingdom, 6 - 09 June 2015, vol.1, no.1, pp.122-123

CYP21A2 gene aberrations in patients with non classical congenital adrenal hyperplasia

Akcan N., Uyguner Z. O. , Toksoy G. , Baş F. , Altunoğlu U., Poyrazoğlu Ş. , et al.

Endocrine Society’s 97th Annual Meeting and Expo, California, United States Of America, 5 - 08 March 2015, vol.36, no.1, pp.1

Genotype and phenotype charasterictics of patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Akcan Tombalak N., Toksoy G. , Uyguner Z. O. , Karakılıç Özturan E. , Aydın B., Baş F. , et al.

53 rd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Dublin, Ireland, 18 - 20 September 2014, vol.82, no.1, pp.176-177

Clinical features and genetic analyses of type III hereditary angioedema patients

Gelincik A. , Unal D., Demirturk M., Olgac M., Demir S., Toksoy G. , et al.

European-Academy-of-Allergy-and-Clinical-Immunology Congress, Copenhagen, Denmark, 7 - 11 June 2014, vol.69, pp.483-484

Homozygous 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

Molecular 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

Novel alteration in AMPD2 gene segregates with non-syndromic intellectual disability linked to MRT4 locus, conjointly responsible from Pontocerebellar hypoplasia

Uyguner Z. O. , Üstek D., Toksoy G. , Görmez Z., Hacarız O., Sağıroğlu M., et al.

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.140

HBB gene mutation spectrum of beta-thalasemia patients from Turkey.

Toksoy G. , Karakaş Z. , Kayserili Karabay H., Karaman V. , Başaran S. , Uyguner Z. O.

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.140

Joubert sendromu tanılı olguda çoğul hipofiz hormon eksikliği

Akcan Tombalak N., Altunoğlu U., Toksoy G. , Poyrazoğlu Ş. , Uyguner Z. O. , Baş F. , et al.

Çocuk Endokrinolojisi Olgu Sunumları-6, , 2014, İzmir, Turkey, 18 - 19 April 2014, vol.1, no.1, pp.6

Prematür 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

Tip III Herediter Anjiödem Hastalarının Klinik ve Genetik Özelliklerinin Analizi

GELİNCİK A. , ÜNAL D. , DEMİRTÜRK M. , OLGAÇ M. , DEMİR S. , TOKSOY G. , et al.

XX. Ulusal Allerji ve Klinik immunoloji Kongresi, Antalya, Turkey, 2 - 06 November 2013, pp.51

Molecular 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

Is Arg5 in HOXDNA binding domain of HOXB1 hot spot for congenital facial paralysis mimicking Moebius syndrome?

Uyguner Z. O. , Özgür H., Altunoğlu U., Toksoy G. , Başaran S. , Bokhoven H. V. , et al.

European Human Genetics Conference 2013, Paris, France, 8 - 11 June 2013, vol.21, no.1, pp.98

Microcephaly 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

Novel indel mutation in CDMP1 gene is associated with brachydactyly type C in a four generation Turkish family

Uyguner Z. O. , Kocaoğlu M., Toksoy G. , Başaran S. , Kayserili Karabay H.

European Human Genetics Conference 2012, Nuremberg, Germany, 23 - 26 June 2012, vol.20, no.1, pp.295

Indications 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

The 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

How 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

A 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

Molecular analysis of the PROP1 gene in the cohort of Turkish patients with Combined Pituitary Hormone Deficiency

Uyguner Z. O. , Toksoy G. , Baş F. , Darendeliler F. F. , Aycan Z., Çetinkaya E., 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.96

A Identification Of 18q12.2-q21.1 Deletion : A case Report

Duman N., Toksoy G. , Laleli Şahin E., Sayar C., Türköver B. B. , Yeşil Şensoy 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.37

Novel De Novo Splice Site Mutation İn EFNB1 Gene Cause Craniofrontonasal Syndrome

Özgür H., Toksoy G. , Altunoğlu U., Kayserili H., Başaran S. , Uyguner Z. O.

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.25

A 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 Sustainable Development

A 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

Interstitial deletion 4q due to a complex rearrangement involving chromosomes 1, 2, 4, 8, 14 and 16

Toksoy G. , ROETHLISBERGER B., TUERKOEVER B., SAYAR C., HUBER A., MINY P.

7th European Cytogenetics Conference, Stockholm, Sweden, 4 - 07 July 2009, vol.17, pp.195-196

Moebius 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

The 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

A prenatal case of a 46,XX[44]/48,XX,+2XMAR[11].ish(D14Z1/D22Z1+,WCP+)mat karyotype, with marker chromosome effects on the phenotypes in three generations

Sayar S., Toksoy G. , Turkover B., Yardimci T., Sahinoglu Z.

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.122

Unusual prenatal case with multiple marker chromosomes

Toksoy G. , TURKOVER B., SAYAR C., SOYLEMEZ M. A. , YARDIMCI T., TARHAN N., et al.

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.127

Case presentation: the pregnancy of a Down syndrome mother

YARDIMCI T., TURKOVER B., SAYAR C., Toksoy G. , ULUDOGAN M., TANDOGAN B.

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.126

Biyokimyasal Tarama Testlerinde Amniyotik Sıvıda Saptanan Kromozom Anomalileri

Aytan M., Engür A., Özkan K., Toksoy G. , Dehgan T., Başaran S.

VIl. Ulusal Tıbbi Genetik Kongresi. 2006, Kayseri, Turkey, 17 - 20 May 2006, vol.1, no.1, pp.134

Doğal ve ICSIgebelik kayıplarında kromozom anomalileri

Toksoy G. , Engür A., Kırgız M., Özkan K., Dehgan T., Başaran S.

VIl. Ulusal Tıbbi Genetik Kongresi, Kayseri, Turkey, 17 - 20 May 2006, pp.77

45,X[9]/46,X,idic(Y)(q11.2)[36] Karyotipine Sahip Bir Olgu

Sayar C., Toksoy G. , Söylemez M. A. , Berkil H., Yılmaz K., Türköver B.

VIl. Ulusal Tıbbi Genetik Kongresi, Kayseri, Turkey, 17 - 20 May 2006, pp.72

A case of intrachromosomal ınsertıon on chromosome 7 involvıng fıve breakpoınts.

Toksoy G. , Türköver B. B. , Sayar C., Söylemez M. A. , Yardımcı T., Giray A.

European Human Genetics Conference, 2006, Amsterdam, Netherlands, 6 - 09 May 2006, vol.14, no.1, pp.179

A new syndrome? A case report with short broad terminal phalanges

Söylemez M. A. , Sayar C., Türköver B. B. , Toksoy G. , Yardımcı T., Giray A.

European Human Genetics Conference, 2006, Amsterdam, Netherlands, 6 - 09 May 2006, vol.14, no.1, pp.156

Fetal 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

Fetal Kromozom Anomalilerinin Sınıflandırılması;6926 Amniyotik Sıvı Örneği Sonuçları

Toksoy G. , Engür A., Aytan M., Ghanbari A., Özkan K., Dehgan T., et al.

VI. Ulusal prenatal Tanı ve Tıbbi Genetik Kongresi- 2004, Antalya, Turkey, 21 - 24 April 2004, vol.1, no.1, pp.74

6926 Amniyotik Sıvı Örneği Sitogenetik Sonuçları

Toksoy G. , Engür A., Aytan M., Ghanberi A., Özkan K., Dehgan T., et al.

. VI. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 21 - 24 April 2004, pp.25

A case report: Amyoplasia ”Classical artrogryposis”

Yardımcı T., Sayar C., Toksoy G. , Sarak K., Alkanat F., Şen A.

V. Ulusal Tıbbi Genetik Kongresi, Konya, Turkey, 9 - 12 October 2002, vol.1, no.1, pp.9

“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

Okulo-Aurikulo-Vertebral Spektrum’ a Uyan Bir Olgu

Tüköver B., Toksoy G. , Sayar C.

IV.Ulusal Prenatal Tanı ve Genetik Kongresi, 2000, İzmir, Turkey, 3 - 06 May 2000, vol.1, no.1, pp.145

Identification 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

De 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

Zeynep Kamil Hastanesi İlk Yıl Kromozom Analiz Sonuçları

Toksoy G. , Uludoğan M., Özden S., Kuyumcuoğlu U., Cantekin D., Başaran S.

3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi- 1998 , Muğla, Turkey, 26 - 30 April 1998, vol.1, no.1, pp.111

Books & Book Chapters

HİPOPİTUİTARİZM

BAŞ F. , TOKSOY G. , UYGUNER Z. O.

in: Çocuk Endokrinolojisi ve Diyabet, Prof. Dr. Feyza Darendeliler, Prof. Dr. Zehra Aycan, Prof. Dr. Cengiz Kara, Doç. Dr. Samim Özen, Doç. Dr. Erdal Eren, Editor, İSTANBUL TIP KİTABEVLERİ, İstanbul, pp.367-424, 2021 Sustainable Development

IV. BÖLÜM TIBBİ GENETİK VE GENETİK HASTALIKLAR, 5. Moleküler Genetikte Temel Bilgiler

UYGUNER Z. O. , TOKSOY G.

in: PEDİYATRİ, Prof. Dr. Feyza Darendeliler , Prof. Dr. Olcay Neyzi , Prof. Dr. Türkân Ertuğrul, Editor, NOBEL TIP KİTABEVLERİ, İstanbul, pp.163-170, 2020

Türk 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 Sustainable Development

NEFROTİK SENDROMDA GENETİK

TOKSOY G. , UYGUNER Z. O.

in: GENETİK VE MULTİDİSİPLİNER YAKLAŞIMLAR TÜRKİYE KLİNİKLERİ, TIBBİ GENETİK, NUR SEMERCİ GÜNDÜZ, Editor, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş., Ankara, pp.8-21, 2019

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