Articles

Case Report

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant

Nidhi Gupta
Seth W. Gregory
David R. Deyle
Peter J. Tebben

J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2020.0012 PMID:32519829

Syndrome of Extreme Insulin Resistance  (Rabson-Mendenhall Phenotype) with Atrial Septal Defect: Clinical Presentation and Treatment Outcomes

Deep Dutta
Indira Maisnam
Sujoy Ghosh
Satinath Mukhopadhyay
Subhankar Chowdhury

J Clin Res Pediatr Endocrinol 2013; 5: 58-61 DOI: 10.4274/Jcrpe.857 PMID:23367497

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A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Xia Zhang
Yanjie Fan
Xiaomin Liu
Ming-Ang Zhu
Yu Sun
Hui Yan
Yunjuan He
Xiantao Ye
Xuefan Gu
Yongguo Yu

J Clin Res Pediatr Endocrinol 2019; 11: 419-425 DOI: 10.4274/jcrpe.galenos.2019.2018.0220 PMID:30630810

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Poster Presentations

CYP11A1 Mutations Result in Various Clinical Phenotypes

Ayla Güven
Federica Buonocore
John Achermann
Tülay Güran

J Clin Res Pediatr Endocrinol 2017; 9: 2-3

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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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Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients

Anna Wedrychowicz
Ewa Tobór
Magdalena Wilk
Ewa Ziólkowska-Ledwith
Anna Rams
Katarzyna Wzorek
Barbara Sabal
Malgorzata Stelmach
Jerzy B. Starzyk

J Clin Res Pediatr Endocrinol 2017; 9: 246-252 DOI: 10.4274/jcrpe.4461 PMID:28663157

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Case Report

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients

Adrijan Sarajlija
Tatjana Milenkovic
Maja Djordjevic
Katarina Mitrovic
Sladjana Todorovic
Bozica Kecman
Khalid Hussain

J Clin Res Pediatr Endocrinol 2016; 8: 228-231 DOI: 10.4274/jcrpe.2436 PMID:26759084

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Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

Asma Deeb
Hana Al Suwaidi
Fakunle Ibukunoluwa
Salima Attia

J Clin Res Pediatr Endocrinol 2016; 8: 236-240 DOI: 10.4274/jcrpe.2782 PMID:27086719

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A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Dagmar Prochazkova
Zuzana Hruba
Petra Konecna
Jarmila Skotakova
Lenka Fajkusova

J Clin Res Pediatr Endocrinol 2016; 8: 482-483 DOI: 10.4274/jcrpe.3021 PMID:27217304

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Other

A Rare Genetic Disorder: Partial Trisomy on Chromosome 21

Gül Yeşiltepe Mutlu
Hatip Aydın
Heves Kırmızıbekmez
Mahmut Doğru
Arda Çetinkaya
Ali Karaman

J Clin Res Pediatr Endocrinol 2015; 7: 78-78

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Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis

Aslı Ece Solmaz
Hüseyin Onay
Tahir Atık
Ayça Aykut
Meltem Cerrah Güneş
Özge Özalp Yüreğir
Veysel Nijat Baş
Filiz Hazan
Özgür Kırbıyık
Ferda Özkinay

J Clin Res Pediatr Endocrinol 2015; 7: 82-82

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Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene

Hilmi Bolat
Samim Özen
Hüseyin Onay
Elif Söbü
Ayhan Abacı
Hüseyin Anıl Korkmaz
Şule Can
Tahir Atik
Şükran Darcan
Ferda Özkınay

J Clin Res Pediatr Endocrinol 2015; 7: 88-88

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Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)

Samim Özen
Damla Gökşen
İlkin Mecidov
Sian Ellard
Özge Altun Köroğlu
Mehmet Yalaz
Şükran Darcan

J Clin Res Pediatr Endocrinol 2015; 7: 91-91

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Case Report

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