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PubMed 10037069 Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants. The aim of the present study was to investigate the N-terminal part (t 1.06 KB 2015-11-01 5 3
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PubMed 10037723 The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. Germline mutations in two human mismatch repair (MMR) genes, hMSH2 and hMLH1, appear to account for approximately 1.41 KB 2015-11-01 27 5
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PubMed 10051009 Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. Point mutations in the ryanodine receptor (RYR1) gene are associated with mali 1.17 KB 2015-11-01 6 3
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PubMed 10051603 Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. PTEN/MMAC1 is a tumor suppressor gene located on chromosome 1.46 KB 2015-11-01 6 3
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PubMed 10053006 A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. We have identified a novel fibroblast gr 1.3 KB 2015-11-02 5 16
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PubMed 10070866 Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions. Reduced expression of BRCA1 has been implicated in spor 1.63 KB 2015-11-02 8 5
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PubMed 10071056 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. We observed a missense mutation in the peripheral myelin 1.33 KB 2015-11-02 5 3
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PubMed 10072044 Gelsolin-related spinal and cerebral amyloid angiopathy. Gelsolin-related amyloidosis (familial amyloidosis, Finnish type) is a rare disorder, reported worldwide in kindreds carrying a G654A or G654T 1.47 KB 2015-11-02 5 3
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PubMed 10076877 Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). In order to test th 961 Bytes 2015-11-02 12 3
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PubMed 10077612 Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, 1.24 KB 2015-11-02 6 43
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