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 …
origin, resulting in allelic expression differences during development. Abnormalities in …
Mechanisms of imprinting of the Prader–Willi/Angelman region
B Horsthemke, J Wagstaff - … journal of medical genetics Part A, 2008 - Wiley Online Library
Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct
neurodevelopmental disorders, each caused by several genetic and epigenetic …
neurodevelopmental disorders, each caused by several genetic and epigenetic …
Angelman syndrome—insights into a rare neurogenetic disorder
K Buiting, C Williams, B Horsthemke - Nature Reviews Neurology, 2016 - nature.com
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly,
severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic …
severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic …
Prognostic implications of monosomy 3 in uveal melanoma
…, R Becher, H Hirche, KH Jöckel, B Horsthemke - The Lancet, 1996 - Elsevier
Background A high proportion of patients with uveal melanoma die of metastatic disease. In
a subgroup of uveal melanomas there is the loss of one chromosome 3. To assess the …
a subgroup of uveal melanomas there is the loss of one chromosome 3. To assess the …
[PDF][PDF] Intracytoplasmic sperm injection may increase the risk of imprinting defects
…, UA Mau, K Sperling, BL Wu, B Horsthemke - The American Journal of …, 2002 - cell.com
In germ cells and the early embryo, the mammalian genome undergoes widespread
epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external …
epigenetic reprogramming. Animal studies suggest that this process is vulnerable to external …
Association of a human G-protein β3 subunit variant with hypertension
…, E Ritz, HE Wichmann, KH Jakobs, B Horsthemke - Nature …, 1998 - nature.com
Hypertension is a common disorder of multifactorial origin that constitutes a major risk factor
for cardiovascular events such as stroke and myocardial infarction. Previous studies …
for cardiovascular events such as stroke and myocardial infarction. Previous studies …
Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15
…, B Dittrich, S Schwartz, RD Nicholls, B Horsthemke - Nature …, 1995 - nature.com
A subset of patients with Angelman and Prader–Willi syndrome have apparently normal
chromosomes of biparental origin, but abnormal DMA methylation at several loci within …
chromosomes of biparental origin, but abnormal DMA methylation at several loci within …
[HTML][HTML] The International Human Epigenome Consortium: a blueprint for scientific collaboration and discovery
The International Human Epigenome Consortium (IHEC) coordinates the generation of a
catalog of high-resolution reference epigenomes of major primary human cell types. The …
catalog of high-resolution reference epigenomes of major primary human cell types. The …
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
…, B Pötzsch, S Moebus, B Horsthemke… - Nature …, 2009 - nature.com
We conducted a genome-wide association study involving 224 cases and 383 controls of
Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without …
Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without …
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
…, CI Brannan, B Horsthemke… - Proceedings of the …, 2000 - National Acad Sciences
We have identified three C/D-box small nucleolar RNAs (snoRNAs) and one H/ACA-box
snoRNA in mouse and human. In mice, all four snoRNAs (MBII-13, MBII-52, MBII-85, and …
snoRNA in mouse and human. In mice, all four snoRNAs (MBII-13, MBII-52, MBII-85, and …