Makaleler
49
Tümü (49)
SCI-E, SSCI, AHCI (46)
SCI-E, SSCI, AHCI, ESCI (46)
Scopus (44)
TRDizin (6)
Diğer Yayınlar (1)
1. Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders
Journal of Clinical Endocrinology and Metabolism
, cilt.110, sa.4, ss.1044-1052, 2025 (SCI-Expanded, Scopus)
3. Novel CUL3 Variant in Pseudohypoaldosteronism Type 2
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.429-430, 2022 (SCI-Expanded, Scopus)
7. Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model.
Journal of clinical research in pediatric endocrinology
, cilt.14, ss.293-301, 2022 (SCI-Expanded, Scopus, TRDizin)
9. Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
Journal of pediatric endocrinology & metabolism : JPEM
, cilt.34, sa.5, ss.639-648, 2021 (SCI-Expanded)
10. Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.12, sa.3, ss.261-268, 2020 (SCI-Expanded, Scopus, TRDizin)
18. A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
, cilt.5, ss.403-405, 2018 (SCI-Expanded, Scopus)
19. Novel Inactivating Mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model
CLINICAL GENETICS
, cilt.4, ss.853-859, 2018 (SCI-Expanded, Scopus)
22. Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.9, sa.2, ss.95-100, 2017 (SCI-Expanded, Scopus, TRDizin)
23. CHILDHOOD METASTATIC ADRENOCORTICAL CARCINOMA: CASE PRESENTATION
HORMONE RESEARCH IN PAEDIATRICS
, cilt.88, ss.431-432, 2017 (SCI-Expanded, Scopus)
24. A NOVEL FRAMESHIFT MUTATION IN ESCO2 GENE CAUSE ROBERTS SYNDROME: CASE PRESENTATION
HORMONE RESEARCH IN PAEDIATRICS
, cilt.88, ss.381, 2017 (SCI-Expanded, Scopus)
25. A CASE OF SEX DEVELOPMENT DISORDER DUE TO A NOVEL MUTATION IN 5 ALFA REDUCTASE (SRD5A2) GENE
HORMONE RESEARCH IN PAEDIATRICS
, cilt.88, ss.370, 2017 (SCI-Expanded, Scopus)
26. COMBINATION OF HIRSCHSPRUNG DISEASE AND A NOVEL DEFINED MUTATION RELATED CONGENITAL ADRENAL HYPERPLASIA IN CYP21A2 GENE: CASE PRESENTATION
HORMONE RESEARCH IN PAEDIATRICS
, cilt.88, ss.432, 2017 (SCI-Expanded, Scopus)
27. AN INFANTILE HYPOPHOSPHATASIA CASE DUE TO A NOVEL MUTATION IN TNSALP GENE
HORMONE RESEARCH IN PAEDIATRICS
, cilt.88, ss.91-92, 2017 (SCI-Expanded, Scopus)
28. Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.
Journal of clinical research in pediatric endocrinology
, cilt.8, ss.125-34, 2016 (SCI-Expanded, Scopus, TRDizin)
30. Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.58, 2016 (SCI-Expanded, Scopus)
31. Genetics of Hypogonadotropic Hypogonadism
PUBERTY FROM BENCH TO CLINIC: LESSONS FOR CLINICAL MANAGEMENT OF PUBERTAL DISORDERS
, cilt.29, ss.36-49, 2016 (SCI-Expanded, Scopus)
32. Kallmann Syndrome Due to a Homozygous Missense c.217C > T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.431-432, 2016 (SCI-Expanded, Scopus)
34. Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.58-59, 2016 (SCI-Expanded)
37. A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
, cilt.1844, sa.7, ss.1248-1259, 2014 (SCI-Expanded, Scopus)
38. Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Cause Pubertal Failure and Cerebellar Ataxia (Gordon Holmes Syndrome)
ENDOCRINE REVIEWS
, cilt.35, sa.3, 2014 (SCI-Expanded, Scopus)
41. Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.4, sa.3, ss.121-126, 2012 (SCI-Expanded)
42. Molecular structure and genealogical characterization of the DYS458.2 allelic variants founded in Turkey population samples
Forensic Sci Int Genet Suppl.
, sa.3, ss.281-282, 2011 (Hakemli Dergi)
46. Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
, cilt.94, sa.10, ss.3633-3639, 2009 (SCI-Expanded, Scopus)
48. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in human puberty
HORMONE RESEARCH
, cilt.72, ss.49-50, 2009 (SCI-Expanded)
49. A novel missense mutation in the first extracellular loop of the neurokinin B receptor causes hypogonadotropic hypogonadism
HORMONE RESEARCH
, cilt.72, ss.402, 2009 (SCI-Expanded)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
32
1. COVID-19 Pandemisi Sürecinde Yeni Tanı Tip 1 Diyabet Hastalarında Tek Merkez Deneyimi
XIX. Çukurova Pediatri Günleri, çevrimiçi, Türkiye, 19 - 21 Mart 2021, (Tam Metin Bildiri)
2. İDİOPATİK HİPOGONADOTROPİK HİPOGONADİZM’DE SEMA3F VE PLXNA3 MUTASYONLARI
4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, çevrimiçi, Türkiye, 12 Mart 2021, (Özet Bildiri)
3. DLG2 Mutations in Hypogonadotropic Hypogonadism
4th International Congress of Turkish Neuroendocrinology Society (4th TNED Congress), çevrimiçi, Türkiye, 26 Kasım 2020, (Özet Bildiri)
4. İdiyopatik Hipogonadotropik Hipogonadizm’le İlişkili Nadir NDNF Varyantları
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, çevrimiçi, Türkiye, 30 Ekim 2020, (Özet Bildiri)
5. Kalıtsal Hipofosfatemi Olgularında Moleküler Genetik Analiz Seçimi
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, çevrimiçi, Türkiye, 30 Ekim 2020, (Özet Bildiri)
6. Tiroid Neoplazili Çocuk ve Adolesanların İzleminde Tek Merkez Deneyimi
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, çevrimiçi, Türkiye, 30 Ekim 2020, (Özet Bildiri)
10. A Rare Cause of Hypogonadotropic Hypogonadism: FGFR1Mutation
European Society for Paediatric Endocrinology, 19 - 21 Eylül 2019, (Özet Bildiri)
13. Adrenal Yetmezlik ve Hipogonadotropik Hipogonadizm Olmadan 46,XY Cinsiyet Gelişim Bozukluğu İle Gelen İki DAX1 Gen Mutasyonu Olgusu
9. Çocuk Endokrinolojisi Olgu Sunumları, Türkiye, 19 - 20 Ekim 2018, (Özet Bildiri)
16. CASR Mutasyonuna Bağlı Yenidoğanın Ciddi Hiperparatiroidisinde Cinacalset Tedavi Etkinliği
XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)
19. Leptinin pubertal Kiss1 Kiss1R TacR ve TacR3 genlerinin ekspresyonlarına etkisinin GT 1 7 hipotalamik hücre hattında değerlendirilmesi
1st International Mediterranean Science and Engineering Congress. October 26-28, 2016. Adana, Turkey, Adana, Türkiye, 26 - 28 Ekim 2016, (Özet Bildiri)
20. İnsan meme kanseri hücre hattında kisspeptinin aromataz ekpresyonu üzerine etkisinin incelenmesi
1st International Mediterranean Science and Engineering Congress. October 26-28, 2016. Adana, Turkey, Adana, Türkiye, 26 - 28 Ekim 2016, (Özet Bildiri)
21. Kallmann Syndrome Due to a Homozygous Missense c.217CT (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene
European Society for Paediatric Endocrinology 2016, 10 - 12 Eylül 2016, (Özet Bildiri)
23. ABCC8 Geninde Yeni Bir Splice Site Mutasyonuna Bağlı Hiperinsülinemik Hipoglisemi Olgusunun Sirolimus Tedavisi ile 6 Aylık İzlemi.
Çocuk Endokrinolojisi Olgu Sunumları 8., Adana, Türkiye, 28 Nisan 2016, (Özet Bildiri)
24. ABCC8 Geninde Yeni Bir Splice Site Muyasyonuna Bağlı Hiperinsülinemik Hipoglisemi Olgusunun Sirolimus Tedavisi ile 6Aylık İzlemi
2016 Çocuk Endokrinolojisi Olgu Sunumları-8, Türkiye, 29 - 30 Nisan 2016
25. İzole Büyüme Hormonu Eksikliğinde Tedavi Yanıtlarının Değerlendirilmesi
18. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Türkiye, 5 - 08 Kasım 2014, (Özet Bildiri)
28. Adrenal Yetmezliğin Nadir Bir Nedeni: Konjenital Lipoid Adrenal Hiperplazi
6. Çocuk Endokrinolojisi Olgu Sunumları, Türkiye, 18 - 19 Nisan 2014, (Özet Bildiri)
29. Nikotinamid Nükleotid Transhidrogenaz Kodlayan NNT Genindeki Mutasyona Bağlı Familyal Glukokortikoid Eksikliği
Çocuk Endokrinolojisi Olgu Sunumları-5 Toplantısı, Türkiye, 12 - 13 Nisan 2013, (Özet Bildiri)
31. Normoosmik İdyopatik Hipogonadotropik Hipogonadizme Neden Olan KISS1R Geninde Yeni Muyasyon
15. Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Türkiye, 23 - 26 Kasım 2011, (Özet Bildiri)
Kitaplar
1
1. Human Genetics of GnRH Neuron Function
The GnRH Neuron and Its Control, Herbison A. E., Plant T. M., Editör, John Wiley & Sons, West Sussex, UK , Sussex, ss.443-467, 2018