Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism-Reference-Cited by-同舟云学术

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism

Published:2013-02 Issue:2 Volume:56 Page:114-117
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Calton Elizabeth A.,Temple I. Karen,Mackay Deborah J.G.,Lever Margaret,Ellard Sian,Flanagan Sarah E.,Davies Justin H.,Hussain Khalid,Gray Juliet C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference18 articles.

1. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor;Scott;Nat. Genet.,2008

2. Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice;Tan;J. Paediatr. Child. Health,2006

3. Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels;Hussain;J. Clin. Endocrinol. Metab.,2005

4. Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome;Mussa;Eur. J. Pediatr.,2011

5. Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome;Cooper;Eur. J. Hum. Genet.,2005

Cited by 20 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. Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia;HISTOL HISTOPATHOL;2024

2. Exploring the Role of Surface and Mitochondrial ATP-Sensitive Potassium Channels in Cancer: From Cellular Functions to Therapeutic Potentials;International Journal of Molecular Sciences;2024-02-09

3. Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp);Cancers;2023-04-29

4. Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions;Frontiers in Pharmacology;2023-04-25

5. 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