Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region-Reference-Cited by-同舟云学术

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Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

Published:2015-09-23 Issue:1 Volume:170 Page:170-175
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Briggs Tracy A.¹,Lokulo-Sodipe Kemi²³,Chandler Kate E.¹,Mackay Deborah J. G.²,Temple I. Karen²³

Affiliation:

1. Manchester Centre for Genomic Medicine; St. Mary's Hospital; University of Manchester; Manchester United Kingdom

2. Academic Unit of Human Development and Health; Faculty of Medicine; University of Southampton; Southampton United Kingdom

3. Wessex Clinical Genetics Service; Princess Anne Hospital; University Hospital Southampton NHS Foundation Trust; Southampton United Kingdom

Funder

National Institute on Handicapped Research

Wessex Clinical Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37400/fullpdf

Reference11 articles.

1. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib;Bastepe;Nat Genet,2005

2. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster;Buiting;Hum Mutat,2008

3. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14) mat-like phenotype;Hosoki;Eur J Hum Genet,2008

4. Temple syndrome: Improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: An analysis of 51 published cases;Ioannides;J Med Genet,2014

5. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes;Kagami;Nat Genet,2008

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2. Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes;Frontiers in Genetics;2023-10-04

3. Long non-coding RNAs as emerging regulators of miRNAs and epigenetics in diabetes-related chronic kidney disease;Archives of Physiology and Biochemistry;2022-01-05

4. Essential Role of the 14q32 Encoded miRNAs in Endocrine Tumors;Genes;2021-05-08

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