DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 9827716 Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. BACKGROUND: The Asp816Val mutation in the catalytic domain 2.03 KB 2015-10-29 4 6
-
PubMed 9858225 Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val. A subset of patients with systemic mastocytosis (SM) develop acut 1.28 KB 2015-10-29 11 5
-
PubMed 10022392 Prenatal diagnosis of thyroid hormone resistance. A 29-yr-old woman with pituitary resistance to thyroid hormones (PRTH) was found to harbor a novel point mutation (T337A) on exon 9 of the thyroid hor 3.11 KB 2018-04-11 9 3
-
PubMed 10022417 The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. Detailed endocrinological studies were performed in the three 1.63 KB 2015-10-30 8 3
-
PubMed 10023663 Ganglioneuromas and renal anomalies are induced by activated RET(MEN2B) in transgenic mice. Multiple endocrine neoplasia type 2B (MEN2B) is an autosomal dominant syndrome characterized by the developm 1.5 KB 2015-10-30 5 3
-
PubMed 10024437 A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindre 804 Bytes 2015-10-30 5 5
-
PubMed 10024915 Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. Juvenile haemochromatosis is a rare inborn error of iron metabolism with clinical manifestation 2 KB 2015-10-30 5 39
-
PubMed 10027719 Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations. Forty Caucasian patients with primary acquired sideroblast 790 Bytes 2015-10-31 6 14
-
PubMed 10029606 Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebo 1.64 KB 2015-10-31 13 14
-
PubMed 10036327 Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder caused by defects in the Na+/glucose 1.38 KB 2015-10-31 24 5
-