Documents (40) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9288106	Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Ataxia-telangiectasia (A-T) is a recessive multi-system disorder caused by mutations in the ATM gene	1.74 KB	2015-11-27	29	19	-
PubMed	9294109	Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by	1.33 KB	2015-12-08	46	2	-
PubMed	9311732	Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. In most patients with isolated unilateral retinoblastoma, tumor development is initiated by somatic inactivation	2.03 KB	2015-11-27	25	6	-
PubMed	932197	Hereditary deficiency of the fifth component of complement in man. I. Clinical, immunochemical, and family studies. The first recognized human kindred with hereditary deficiency of the fifth component	2 KB	2015-12-04	28	23	-
PubMed	9336417	Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. OBJECTIVE: To determine the relative effects of genetic and environmental factors in susceptibility to a	1.66 KB	2015-03-12	24	7	-
PubMed	9342365	Cell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domains. Germ-line mutations of the BRCA1 gene predispose women to early-onset breast and ovarian cancer by compromi	1.39 KB	2015-03-12	23	20	-
PubMed	9358014	Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HF	1.03 KB	2015-11-28	25	5	-
PubMed	9360520	Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an	1.31 KB	2015-11-27	28	5	-
PubMed	9371490	Frequent inactivation of PTEN/MMAC1 in primary prostate cancer. Sporadic prostate carcinoma is the most common male cancer in the Western world, yet many of the major genetic events involved in the pr	1.14 KB	2015-11-27	24	7	-
PubMed	9382108	Risk reversals in predictive testing for Huntington disease. The first predictive testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood	1 KB	2015-03-12	29	5	-