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PubMed 21799811 Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an indian population and a meta-analysis. BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) is an i 1.89 KB 2016-01-03 27 4 2021-12-23
PubMed 17962394 Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. AIMS: This study aimed to identify the underlying genetic defect of a large T 1.3 KB 2015-11-23 28 4 2021-12-23
PubMed 16419642 A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes. A gain-of-function mutation resulting in the S810L amino a 1.78 KB 2015-11-20 28 11 2021-12-23
PubMed 14510914 Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. OBJECTIVE: Iodide transport defect (ITD) is a rare disorder characterised by an inability of the thyroid to main 1.88 KB 2015-11-18 30 1 2021-12-23
PubMed 6086495 Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. A linkage study in 30 Becker muscular dystrophy (BMD) kindreds using three c 765 Bytes 2015-11-28 33 0 2021-12-23
PubMed 17033974 Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels 1.16 KB 2015-11-23 34 1 2021-12-23
PubMed 15041272 A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were st 1.53 KB 2015-11-18 34 4 2021-12-23
PubMed 7811247 X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient w 984 Bytes 2015-11-27 38 0 2021-12-23
PubMed 20195852 Risk of nephropathy after consumption of nonionic contrast media by children undergoing cardiac angiography: a prospective study. Despite increasing reports on nonionic contrast media-induced nephropa 2.15 KB 2016-01-01 43 0 2021-12-23
PubMed 8944024 Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. The ability to scan a large gene rapidly and accurately for all possible he 1.02 KB 2015-03-12 46 0 2021-12-23