Human imprinting syndromes-Reference-Cited by-同舟云学术

Human imprinting syndromes

Published:2009-12 Issue:2 Volume:1 Page:347-369
ISSN:1750-1911
Container-title:Epigenomics
language:en
Short-container-title:Epigenomics

Author:

Lim Derek HK¹²,Maher Eamonn R¹²

Affiliation:

1. Birmingham Women’s Hospital, Birmingham UK

2. Department of Medical & Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, B15 2TT, UK.

Abstract

Human imprinting disorders can provide critical insights into the role of imprinted genes in human development and health, and the molecular mechanisms that regulate genomic imprinting. To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith–Wiedemann syndrome, Silver–Russell syndrome, Angelman syndrome, Prader–Willi syndrome, pseudohypoparathyroidism, transient neonatal diabetes, familial complete hydatidiform moles and chromosome 14q32 imprinting domain disorders.

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

Link

https://www.futuremedicine.com/doi/pdf/10.2217/epi.09.24

Reference188 articles.

1. Genomic imprinting: parental influence on the genome

2. Completion of mouse embryogenesis requires both the maternal and paternal genomes

3. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis

4. Androgenetic origin of hydatidiform mole

5. Dispermic origin of XY hydatidiform moles

Cited by 24 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. Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses;Human Reproduction;2023-02-24

2. Estimation of genetic heritabilities of human traits in case–control studies;Annals of Human Genetics;2022-12-23

3. Analysis of parent‐of‐origin effects for secondary phenotypes using case–control mother–child pair data;Genetic Epidemiology;2022-05-29

4. Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines;Biomolecules;2021-11-02

5. Covariate adjusted inference of parent‐of‐origin effects using case–control mother–child paired multilocus genotype data;Genetic Epidemiology;2021-08-23