PubMed-2000

Documents (531,038) JSON TSV

source DB	source ID	text	size	updated at	# proj.	updated_at
PubMed	10878391	Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. The Wiskott-Aldrich s	1.27 KB	2015-11-15	10	-
PubMed	10915776	Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. X-linked retinoschisis is characterized by microcystic-like cha	1.75 KB	2015-11-21	10	-
PubMed	10930361	Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiodegen	2.03 KB	2015-11-15	12	-
PubMed	10947987	Asef, a link between the tumor suppressor APC and G-protein signaling. The adenomatous polyposis coli gene (APC) is mutated in familial adenomatous polyposis and in sporadic colorectal tumors. Here th	738 Bytes	2015-11-21	9	-
PubMed	10976074	Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Myotonic dystrophy (DM), the most common form of muscular dystrophy in adult humans, results from expansion of a CTG repeat in	724 Bytes	2015-11-15	11	-
PubMed	10915770	Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype. Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted	1.66 KB	2015-11-15	11	-
PubMed	10930571	A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). Aarskog-Scott Syndrome (AAS) is an X-linked disorder chara	1.47 KB	2015-11-15	11	-
PubMed	10923035	Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). Benign familial infantile convulsions (BFIC) is a rare autosomal dom	1.33 KB	2015-11-15	11	-
PubMed	10982189	Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis. Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in the hereditary col	1.74 KB	2015-11-21	9	-
PubMed	10924409	Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Germline mutations of the adenomatous polyposi	1.69 KB	2015-11-15	11	-