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PubMed 15191352 Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene. Resistance to thyroid hormone syndrome (RTH) is a rare disorder, usually inherited as an 1.03 KB 2015-11-19 28 24 2021-12-05
PubMed 15122711 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago. It is an autosomal recessive, 802 Bytes 2015-11-22 32 17 2021-12-05
PubMed 15086325 Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees. To investigate the molecular defects in two Chinese pedigrees with inherit 1.38 KB 2015-11-22 40 20 2021-12-05
PubMed 15069170 Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder resultin 1.81 KB 2015-11-22 41 46 2021-12-05
PubMed 15064320 Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. The goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis 1.45 KB 2015-11-18 29 32 2021-12-05
PubMed 15000256 Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. Fragile X syndrome is one of the most common causes of mental retardation in male 1.15 KB 2015-11-18 26 20 2021-12-05
PubMed 22051099 Variation in the CXCR1 gene (IL8RA) is not associated with susceptibility to chronic periodontitis. BACKGROUND: The chemokine receptor 1 CXCR-1 (or IL8R-alpha) is a specific receptor for the interleuk 1.08 KB 2015-11-26 29 21 2021-12-05
PubMed 21682595 XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE 1.63 KB 2015-11-26 30 28 2021-12-05
PubMed 21054465 Mutational analysis of CYP2C8 in hypertensive patients using denaturing high performance liquid chromatography. WHAT IS KNOWN AND OBJECTIVE: CYP2C8 is involved in the cytochrome P450 (CYP) epoxygenase 1.55 KB 2015-11-25 43 27 2021-12-05
PubMed 20846357 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. BACKGROUND: Keratitis-ichthyosis-deafness (KID) synd 1.9 KB 2015-11-25 35 34 2021-12-05