Prader–Willi syndrome and Angelman syndrome

K Buiting - American Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic
disorders in which imprinted genes on the proximal long arm of chromosome 15 are …

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

RD Nicholls, JL Knepper - Annual review of genomics and …, 2001 - annualreviews.org
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes
(PWS and AS) represents a paradigm for understanding the relationships between genome …

Prader-Willi syndrome.

SB Cassidy - Journal of medical genetics, 1997 - jmg.bmj.com
Prader-Willi syndrome is a complex disorder affecting multiple systems with many
manifestations relating to hypothalamic insufficiency. Major findings include infantile …

Imprinted expression of the Igf2r gene depends on an intronic CpG island

A Wutz, OW Smrzka, N Schweifer, K Schellander… - Nature, 1997 - nature.com
Gametic imprinting is a developmental process that induces parental-specific expression or
repression of autosomal and X-chromosome-linked genes,. The mouse Igf2r gene …

[HTML][HTML] An Alu transposition model for the origin and expansion of human segmental duplications

JA Bailey, G Liu, EE Eichler - The American Journal of Human Genetics, 2003 - cell.com
Relative to genomes of other sequenced organisms, the human genome appears
particularly enriched for large, highly homologous segmental duplications (⩾ 90% sequence …

Role of DNA methylation in imprinting disorders: an updated review

AR Elhamamsy - Journal of Assisted Reproduction and Genetics, 2017 - Springer
Genomic imprinting is a complex epigenetic process that contributes substantially to
embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the …

Genomic imprinting in mammals

MS Bartolomei, SM Tilghman - Annual review of genetics, 1997 - annualreviews.org
▪ Abstract A handful of autosomal genes in the mammalian genome are inherited in a silent
state from one of the two parents, and in a fully active form from the other, thereby rendering …

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

DC Bittel, MG Butler - Expert reviews in molecular medicine, 2005 - cambridge.org
Prader–Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of
expression of paternally inherited genes known to be imprinted and located in the …

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

K Buiting, S Groß, C Lich, G Gillessen-Kaesbach… - The American Journal of …, 2003 - cell.com
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that
are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of …

Imprinting in Prader–Willi and Angelman syndromes

RD Nicholls, S Saitoh, B Horsthemke - Trends in Genetics, 1998 - cell.com
Imprinted genes are marked in the germline and retain molecular memory of their parental
origin, resulting in allelic expression differences during development. Abnormalities in …