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PubMed 10067911 Clinical variability in patients with Apert's syndrome. OBJECT: Apert's syndrome is characterized by faciocraniosynostosis and severe bony and cutaneous syndactyly of all four limbs. The molecular bas 1.5 KB 2015-11-15 3 3
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PubMed 10204851 Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. Hereditary pancreatitis (HP) is a rare inherited disorder, characterised by recurrent epis 1.57 KB 2015-11-15 7 5
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PubMed 10205226 Lack of evidence for association between the endothelial nitric oxide synthase gene and hypertension. Significant association between a Glu298Asp polymorphism of the endothelial nitric oxide synthase 1.83 KB 2015-11-15 6 6
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PubMed 10205587 The different effects of a Gln27Glu beta 2-adrenoceptor gene polymorphism on obesity in males and in females. OBJECTIVES: To investigate the role of a polymorphism in codon 27 (Gln27Glu) of the beta 2 1.76 KB 2015-11-15 5 3
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PubMed 10208491 Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases. Elevated plasma homocysteine is increasingly being recognized as a risk factor for coronary a 2 KB 2015-11-15 5 3
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PubMed 10208578 A distinct familial presenile dementia with a novel missense mutation in the tau gene. We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Se 1.29 KB 2015-11-15 5 3
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PubMed 10214757 A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. We found the association of a heterozygous novel MPZ gene point mutation, Ile62Phe in exon 2, with auto 642 Bytes 2015-11-15 8 6
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PubMed 10215405 A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in bri 1.47 KB 2015-11-15 13 7
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PubMed 10215410 A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. Hypochondroplasia and achondroplasia are skeletal dysplasias, c 1.97 KB 2015-11-15 6 6
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PubMed 10216065 ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients. AIM: To determine whether mutations in the Stargardt's 1.77 KB 2015-11-15 7 3
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