ISSN:1308-5727 E-ISSN:1308-5735

Original Article

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort
  • Maria Sol Touzon
  • Natalia Perez Garrido
  • Roxana Marino
  • Pablo Ramirez
  • Mariana Costanzo
  • Gabriela Guercio
  • Esperanza Berensztein
  • Marco A. Rivarola
  • Alicia Belgorosky
J Clin Res Pediatr Endocrinol 2019; 11: 24-33 DOI: 10.4274/jcrpe.galenos.2018.2018.0185 PMID:30251955
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Identification of Novel ROR2 Gene Mutations in Indian Children with Robinow Syndrome
  • Parag M Tamhankar
  • Lakshmi Vasudevan
  • Shweta Kondurkar
  • Yashaswini K
  • Sunil Kumar Agarwalla
  • Mohandas Nair
  • Ramkumar TV
  • Nitin Chaubal
  • Vasundhara Sridhar Chennuri
J Clin Res Pediatr Endocrinol 2014; 6: 79-83 DOI: 10.4274/jcrpe.1233 PMID:24932600
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Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency
  • Ahmet Arman
  • Bumin Nuri Dündar
  • Ergun Çetinkaya
  • Nilüfer Erzaim
  • Atilla Büyükgebiz
J Clin Res Pediatr Endocrinol 2014; 6: 202-208 DOI: 10.4274/jcrpe.1518 PMID:25541890
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Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China
  • Aijing Xu
  • Jing Cheng
  • Huiying Sheng
  • Zhe Wen
  • Yunting Lin
  • Zhihong Zhou
  • Chunhua Zeng
  • Yongxian Shao
  • Cuiling Li
  • Li Liu
  • Xiuzhen Li
J Clin Res Pediatr Endocrinol 2019; 11: 400-409 DOI: 10.4274/jcrpe.galenos.2019.2019.0046 PMID:31208162
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Case Report

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)
  • Akie Nakamura
  • Katsura İshidu
  • Toshihiro Tajima
J Clin Res Pediatr Endocrinol 2012; 4: 104-106 DOI: 10.4274/Jcrpe.584 PMID:22672869
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Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings
  • Bayram Özhan
  • Özlem Boz Anlaş
  • Bilge Sarıkepe
  • Burcu Albuz
  • Nur Semerci Gündüz
J Clin Res Pediatr Endocrinol 2017; 9: 278-282 DOI: 10.4274/jcrpe.4595 PMID:28515030
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Original Research

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
  • Firdevs Baş
  • Hülya Kayserili
  • Feyza Darendeliler
  • Oya Uyguner
  • Hülya Günöz
  • Memnune Yüksel Apak
  • Fatmahan Atalar
  • Rüveyde Bundak
  • Robert C. Wilson
  • Maria I. New
  • Bernd Wollnik
  • Nurçin Saka
J Clin Res Pediatr Endocrinol 2009; 1: 116-128 DOI: 10.4008/jcrpe.v1i3.49 PMID:21274396
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Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
  • Kenan Delil
  • Halil Gürhan Karabulut
  • Bülent Hacıhamdioğlu
  • Zeynep Şıklar
  • Merih Berberoğlu
  • Gönül Öçal
  • Ajlan Tükün
  • Hatice Ilgın Ruhi
J Clin Res Pediatr Endocrinol 2016; 8: 144-149 DOI: 10.4274/jcrpe.2307 PMID:26758084
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Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years
  • Wei-Yan Wang
  • Yi Sun
  • Wen-Ting Zhao
  • Tai Wu
  • Liang Wang
  • Tian-Ming Yuan
  • Hui-Min Yu
J Clin Res Pediatr Endocrinol 2017; 9: 194-201 DOI: 10.4274/jcrpe.3934 PMID:28270372
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Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
  • Selma Tunç
  • Korcan Demir
  • Fatma Ajlan Tükün
  • Cihan Topal
  • Filiz Hazan
  • Burcu Sağlam
  • Özlem Nalbantoğlu
  • Melek Yıldız
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2017; 9: 216-221 DOI: 10.4274/jcrpe.4225 PMID:28218067
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Original Article

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism
  • Fatih Gürbüz
  • L. Damla Kotan
  • Eda Mengen
  • Zeynep Şıklar
  • Merih Berberoğlu
  • Sebila Dökmetaş
  • Mehmet Fatih Kılıçlı
  • Ayla Güven
  • Birgül Kirel
  • Nurçin Saka
  • Şükran Poyrazoğlu
  • Yaşar Cesur
  • Murat Doğan
  • Samim Özen
  • Mehmet Nuri Özbek
  • Hüseyin Demirbilek
  • M. Burcu Kekil
  • Fatih Temiz
  • Neslihan Önenli Mungan
  • Bilgin Yüksel
  • Ali Kemal Topaloğlu
J Clin Res Pediatr Endocrinol 2012; 4: 121-126 DOI: 10.4274/Jcrpe.725 PMID:22766261
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Letter to the Editor

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
  • Fatih Gürbüz
  • Bilgin Yüksel
  • Ali Kemal Topaloğlu
J Clin Res Pediatr Endocrinol 2016; 8: 496-497 DOI: 10.4274/jcrpe.3065
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Latest Update: 15.02.2021
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