Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome-Reference-Cited by-同舟云学术

Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: Few clinical features suggestive of Beckwith-Wiedemann syndrome

Published:2013 Issue:4 Volume:60 Page:403-408
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Adachi Hiroyuki¹,Takahashi Ikuko¹,Higashimoto Ken²,Tsuchida Satoko¹,Noguchi Atsuko¹,Tamura Hiroaki¹,Arai Hirokazu¹,Ito Tomoo¹,Masue Michiya³,Nishibori Hironori⁴,Takahashi Tsutomu¹,Soejima Hidenobu²

Affiliation:

1. Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan

2. Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Saga University, Saga, Japan

3. Department of Pediatrics, Kizawa Memorial Hospital, Gifu, Japan

4. Department of Radiology, Kizawa Memorial Hospital, Gifu, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/60/4/60_EJ12-0242/_pdf

Reference20 articles.

1. 1. Choufani S, Shuman C, Weksberg R (2010) Beckwith-Wiedemann syndrome. Am J Med Genet C 154C: 343-354.

2. 2. Weksberg R, Shuman C, Beckwith JB (2010) Beckwith-Wiedemann syndrome. Eur J Hum Genet 18: 8-14.

3. 3. Descartes M, Romp R, Franklin J, Biggio JR, Zehnbauer B (2008) Constitutional H19 hypermethylation in a patient with isolated cardiac tumor. Am J Med Genet A 146A: 2126-2129.

4. 4. Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, et al. (2010) Congenital hyperinsulinism. Early Hum Dev 86: 287-294.

5. Congenital hyperinsulinism: current trends in diagnosis and therapy

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review;Cureus;2024-04-04

2. Hyperinsulinemic Hypoglycemia in Childhood;European Journal of Therapeutics;2023-08-15

3. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30

4. Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus;Journal of the Endocrine Society;2022-04-06

5. Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum;American Journal of Medical Genetics Part A;2021-03-11