PubMed-2000

Documents (531,038) JSON TSV

source DB	source ID	text	size	updated at	# proj.	updated_at
PubMed	10639175	Atm and Bax cooperate in ionizing radiation-induced apoptosis in the central nervous system. Ataxia-telangiectasia is a hereditary multisystemic disease resulting from mutations of ataxia telangiectas	1.41 KB	2015-11-21	10	-
PubMed	10662807	Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C. Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrom	2 KB	2015-11-15	12	-
PubMed	10677309	ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Approximately 0.5%-1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM	1.79 KB	2015-11-15	12	-
PubMed	10698963	Human mutations in glucose 6-phosphate dehydrogenase reflect evolutionary history. Glucose 6-phosphate dehydrogenase (G6PD) is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main fun	1.58 KB	2015-11-21	9	-
PubMed	10699184	Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. Myotonic dystrophy (DM) is the most prevalent inherited neuro	1.65 KB	2015-11-15	11	-
PubMed	10706858	Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Protein S deficiency is a recognized risk factor for venous thrombosis. Of a	1.69 KB	2015-11-15	11	-
PubMed	10709732	Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Autoimmune lymphoproliferative syndrome (ALPS) is characterized by autoimmune fe	1.1 KB	2015-11-15	18	-
PubMed	10712201	Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Deletions and other abnormalities of	1.65 KB	2015-11-21	9	-
PubMed	10712209	Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics. A previous link	2.34 KB	2015-11-21	10	-
PubMed	10712225	A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Large intergenerational repeat expansions of the CAG trinucleotide repeat in the HD gene have b	786 Bytes	2015-11-21	9	-