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
Kotan, Leman Damla
Published in Journal of clinical research in pediatric endocrinology (01.09.2022)
Published in Journal of clinical research in pediatric endocrinology (01.09.2022)
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A novel homozygous nonsense NDNF variant in Kallmann syndrome
Kotan, Leman Damla, Yildiz, Melek, Turan, Ihsan, Celiloglu, Can, Yuksel, Bilgin, Topaloglu, Ali Kemal
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A Kemal
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
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Journal Article
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance
Turan, Ihsan, Kotan, Leman Damla, Tastan, Mehmet, Gurbuz, Fatih, Topaloglu, Ali Kemal, Yuksel, Bilgin
Published in Clinical endocrinology (Oxford) (01.06.2018)
Published in Clinical endocrinology (Oxford) (01.06.2018)
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Journal Article
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans
Topaloglu, A. Kemal, Simsek, Enver, Kocher, Matthew A., Mammadova, Jamala, Bober, Ece, Kotan, Leman Damla, Turan, Ihsan, Celiloglu, Can, Gurbuz, Fatih, Yuksel, Bilgin, Good, Deborah J.
Published in Human genetics (01.02.2022)
Published in Human genetics (01.02.2022)
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Journal Article
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism
Welch, Bradley A., Cho, Hyun‐ju, Ucakturk, Seyit Ahmet, Farmer, Stephen Matthew, Cetinkaya, Semra, Abaci, Ayhan, Akkus, Gamze, Simsek, Enver, Kotan, Leman Damla, Turan, Ihsan, Gurbuz, Fatih, Yuksel, Bilgin, Wray, Susan, Topaloglu, A. Kemal
Published in Journal of neuroendocrinology (01.04.2022)
Published in Journal of neuroendocrinology (01.04.2022)
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Journal Article
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism
Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, Ihsan, Delpouve, Gaspard, De Kardelen, Asli rya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, De Cakir, Esra niz P., Yuksel, Aysegul, Agladioglu, Sebahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Topaloglu, A. Kemal
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression
Cho, Hyun-Ju, Gurbuz, Fatih, Stamou, Maria, Kotan, Leman Damla, Farmer, Stephen Matthew, Can, Sule, Tompkins, Miranda Faith, Mammadova, Jamala, Altincik, S Ayca, Gokce, Cumali, Catli, Gonul, Bugrul, Fuat, Bartlett, Keenan, Turan, Ihsan, Balasubramanian, Ravikumar, Yuksel, Bilgin, Seminara, Stephanie B, Wray, Susan, Topaloglu, A Kemal
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
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DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism
Turan, Ihsan, Demir, Korcan, Mengen, Eda, Kotan, Leman Damla, Gürbüz, Fatih, Yüksel, Bilgin, Topaloglu, Ali Kemal
Published in Hormone research in paediatrics (01.02.2022)
Published in Hormone research in paediatrics (01.02.2022)
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Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders
Sun, Bang, Stamou, Maria I, Stockman, Sara L, Campbell, Mark B, Plummer, Lacey, Salnikov, Kathryn B, Kotan, Leman Damla, Topaloglu, A Kemal, Hisama, Fuki M, Davis, Erica E, Seminara, Stephanie B, Balasubramanian, Ravikumar
Published in The journal of clinical endocrinology and metabolism (18.09.2024)
Published in The journal of clinical endocrinology and metabolism (18.09.2024)
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Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets
Turan, Ihsan, Erdem, Sevcan, Kotan, Leman Damla, Ozdemir Dilek, Semine, Tastan, Mehmet, Gurbuz, Fatih, Bişgin, Atıl, Karabay Bayazıt, Aysun, Topaloglu, Ali Kemal, Yuksel, Bilgin
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
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Journal Article
Molecular causes of hypogonadotropic hypogonadism
Topaloglu, Ali Kemal, Kotan, Leman Damla
Published in Current opinion in obstetrics & gynecology (01.08.2010)
Published in Current opinion in obstetrics & gynecology (01.08.2010)
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Journal Article
Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3 Respectively Cause Idiopathic Hypogonadotropic Hypogonadism
Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, ihsan, Delpouve, Gaspard, Kardelen, Asli Derya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, Cakir, Esra Deniz P., Yuksel, Aysegul, Agladioglu, Sabahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Kemal Topaloglu, A.
Published in Genetics in medicine (25.01.2021)
Published in Genetics in medicine (25.01.2021)
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Journal Article
Isolated Hypoaldosteronism: A Case Report
Turan, İhsan, Gürbüz, Fatih, Taşdan, Mehmet, Leman, Damla Kotan, Topaloğlu, Ali Kemal, Bilgin Yüksel
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
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Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
Journal Article
Isolated Hypoaldosteronism: A Case Report
Turan, Ihsan, Gurbuz, Fatih, Tasdan, Mehmet, Kotan, Leman Damla, Topaloglu, Ali Kemal, Yuksel, Bilgin
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
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Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
Journal Article
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1
Kotan, Leman Damla, Cooper, Charlton, Darcan, Şükran, Carr, Ian M, Özen, Samim, Yan, Yi, Hamedani, Mohammad K, Gürbüz, Fatih, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Akkuş, Gamze, Yüksel, Bilgin, Topaloğlu, A Kemal, Leygue, Etienne
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
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Journal Article
Hipogonadotropik Hipogonadizm ve Kallmann Sendromunda Yeni Tanımlanan DCC/NTN1 Mutasyonları
KOTAN, Leman Damla, ÖZDEMİR DİLEK, Semine, AKKUŞ, Gamze, TURAN, İhsan, YÜKSEL, Bilgin, TOPALOĞLU, Ali Kemal
Published in International Journal of Advances in Engineering and Pure Sciences (31.03.2020)
Published in International Journal of Advances in Engineering and Pure Sciences (31.03.2020)
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Journal Article
Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Bulut, Fatma Derya, Özdemir Dilek, Semine, Kotan, Damla, Mengen, Eda, Gürbüz, Fatih, Yüksel, Bilgin
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
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