Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
…, H Galjaard, CT Caskey, DL Nelson, BA Oostra… - Cell, 1991 - cell.com
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated
with a fragile site at Xq27. 3. We identified human YAC clones that span fragile X site-…
with a fragile site at Xq27. 3. We identified human YAC clones that span fragile X site-…
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
…, J Snowden, D Craufurd, D Neary, F Owen, BA Oostra… - Nature, 1998 - nature.com
Thirteen families have been described with an autosomal dominantly inherited dementia
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 1 , 2 , 3 …
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 1 , 2 , 3 …
Biological, clinical and population relevance of 95 loci for blood lipids
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density
lipoprotein cholesterol and triglycerides are among the most important risk factors for …
lipoprotein cholesterol and triglycerides are among the most important risk factors for …
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
…, A Brice, G Meco, CM van Duijn, BA Oostra… - Science, 2003 - science.org
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1
mutations are associated with PARK7, a monogenic form of human parkinsonism. The function …
mutations are associated with PARK7, a monogenic form of human parkinsonism. The function …
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
…, JJA Holden, RG Fenwick Jr, ST Warren, BA Oostra… - Cell, 1991 - cell.com
Fragile X syndrome results from mutations in a (CGG). repeat found in the coding sequence
of the FM+ 1 gene. Analysis of length variation in this region in normal individuals shows a …
of the FM+ 1 gene. Analysis of length variation in this region in normal individuals shows a …
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic
traits, we performed meta-analyses of 21 genome-wide association studies informative for …
traits, we performed meta-analyses of 21 genome-wide association studies informative for …
[HTML][HTML] Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
…, D Nicholl, MMB Breteler, BA Oostra… - … England Journal of …, 2000 - Mass Medical Soc
Background Mutations in the parkin gene have recently been identified in patients with early-onset
Parkinson's disease, but the frequency of the mutations and the associated …
Parkinson's disease, but the frequency of the mutations and the associated …
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
…, MA Pericak-Vance, P Heutink, BA Oostra… - Nature …, 1994 - nature.com
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized
by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some …
by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some …
[HTML][HTML] The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
…, S Gantla, A de Boer, BA Oostra… - … England Journal of …, 1995 - Mass Medical Soc
Background People with Gilbert's syndrome have mild, chronic unconjugated hyperbilirubinemia
in the absence of liver disease or overt hemolysis. Hepatic glucuronidating activity, …
in the absence of liver disease or overt hemolysis. Hepatic glucuronidating activity, …
Absence of expression of the FMR-1 gene in fragile X syndrome
We previously reported the isolation of a gene (FM/?-f) expressed in brain at the fragile X
locus. One exon of this gene lies within an EcoRl fragment that exhibits length variation in …
locus. One exon of this gene lies within an EcoRl fragment that exhibits length variation in …