Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?
出版年份 2016 全文链接
标题
Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?
作者
关键词
-
出版物
JOURNAL OF HUMAN GENETICS
Volume 61, Issue 8, Pages 765-769
出版商
Springer Nature
发表日期
2016-04-28
DOI
10.1038/jhg.2016.45
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects
- (2015) Boudewijn Bakker et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related
- (2014) Deborah Mackay et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations
- (2014) Toshiyuki Maeda et al. GENETICS IN MEDICINE
- Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
- (2014) F. Court et al. GENOME RESEARCH
- Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
- (2013) Stéphanie Maupetit-Méhouas et al. HUMAN MUTATION
- Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism
- (2013) Eduardo Fernández-Rebollo et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Clinical utility gene card for: Pseudohypoparathyroidism
- (2012) Giovanna Mantovani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
- (2011) David A. Parry et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An atypical case of hypomethylation at multiple imprinted loci
- (2011) Emma L Baple et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
- (2010) M Begemann et al. CLINICAL GENETICS
- Beckwith–Wiedemann syndrome
- (2009) Rosanna Weksberg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
- (2009) Esther Meyer et al. PLoS Genetics
- Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
- (2008) Susanne E Boonen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
- (2008) Deborah J G Mackay et al. NATURE GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now