PubMed-2000

Documents (531,038) JSON TSV

source DB	source ID	text	size	updated at	# proj.	updated_at
PubMed	10827108	Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. The proteolipid protein gene (PLP) is normally present at ch	1.43 KB	2015-11-21	16	-
PubMed	10827109	The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. Recently, a 6-kb duplication of exon 13, w	1.25 KB	2015-11-21	10	-
PubMed	10830910	Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene. Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilat	1.32 KB	2015-11-15	11	-
PubMed	10830915	Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia. Friedreich ataxia (FRDA), the most frequently inherited ataxia, is due in the vast majority of cases to a large expansio	653 Bytes	2015-11-21	9	-
PubMed	10839544	Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with suscep	1.3 KB	2015-11-15	11	-
PubMed	10842298	Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. A syndrome of microcephaly, progres	1.26 KB	2015-11-21	16	-
PubMed	10861282	Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis. Ankylosing spondylitis (AS) is a common and highly familial rheumatic disorder. The sibling recurrence risk ratio fo	1.7 KB	2015-11-15	10	-
PubMed	10861298	Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). The PDS gene encodes a transmembrane p	1.49 KB	2015-11-15	13	-
PubMed	10874302	The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation. Germline mutations are the major source of genetic variation that all	999 Bytes	2015-11-21	8	-
PubMed	10875918	Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Heterozygous mutations encoding abnormal forms of the death receptor Fas dominantly interfere with	807 Bytes	2015-11-21	9	-