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