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

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
Abstract
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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Latest Update: 26.10.2020
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