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PubMed 20606392 Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting 1.38 KB 2016-01-05 29 26 2021-12-05
PubMed 20534142 Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion. BACKGROUND: Prohormone convertase 1 is involved in maturation of peptides. Rare mutations in gene PCSK1, e 2.02 KB 2015-11-25 29 48 2021-12-05
PubMed 20143913 Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. Apparent homozygosity for the mutation p.R315X present on exon 5 of 1.09 KB 2015-11-25 51 13 2021-12-05
PubMed 19880293 Polymorphisms in the FOXP3 gene in Han Chinese psoriasis patients. BACKGROUND: Psoriasis is a common dermatological disorder, in which autoimmunity plays an important role. CD4(+)CD25(+) regulatory T 2.46 KB 2015-11-25 43 49 2021-12-05
PubMed 19484664 Angiotensin converting enzyme gene polymorphism in Turkish asthmatic patients. Asthma is a chronic inflammatory disease of the airways. Several candidate genes have been identified with a potential ro 1.89 KB 2015-11-25 27 35 2021-12-05
PubMed 19370764 Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Mucolipido 2.12 KB 2015-11-25 28 31 2021-12-05
PubMed 18681856 Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. OBJECTIVE: To describe clinical and genetic features of 1.58 KB 2015-08-06 31 19 2021-12-05
PubMed 18470323 Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. PURPOSE: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dy 2.08 KB 2015-11-24 38 23 2021-12-05
PubMed 18457324 Genetic polymorphisms in the carbonyl reductase 3 gene CBR3 and the NAD(P)H:quinone oxidoreductase 1 gene NQO1 in patients who developed anthracycline-related congestive heart failure after childhood 2.34 KB 2015-11-24 28 67 2021-12-05
PubMed 18439317 Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular m 1.98 KB 2015-11-24 26 15 2021-12-05