Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 5
Results: 12
Evidence for a prostate cancer linkage to chromosome 20 in 159 hereditary prostate cancer families.
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- Human Genetics, 2001, v. 108, n. 5, p. 430, doi. 10.1007/s004390100513
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- Article
Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.
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- Human Genetics, 2001, v. 108, n. 5, p. 359, doi. 10.1007/s004390100489
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- Article
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.
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- Human Genetics, 2001, v. 108, n. 5, p. 376, doi. 10.1007/s004390100500
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- Article
Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis.
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- Human Genetics, 2001, v. 108, n. 5, p. 436, doi. 10.1007/s004390100492
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Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
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- Human Genetics, 2001, v. 108, n. 5, p. 409, doi. 10.1007/s004390100506
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Molecular and functional characterisation of mild MCAD deficiency.
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- Human Genetics, 2001, v. 108, n. 5, p. 404, doi. 10.1007/s004390100501
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- Article
Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis.
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- Human Genetics, 2001, v. 108, n. 5, p. 368, doi. 10.1007/s004390100503
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- Article
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.
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- Human Genetics, 2001, v. 108, n. 5, p. 416, doi. 10.1007/s004390100514
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Refinement of the chromosome 5p locus for craniometaphyseal dysplasia.
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- Human Genetics, 2001, v. 108, n. 5, p. 394, doi. 10.1007/s004390100515
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- Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
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- Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507
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- Article
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.
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- Human Genetics, 2001, v. 108, n. 5, p. 398, doi. 10.1007/s004390100495
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- Article
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
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- Human Genetics, 2001, v. 108, n. 5, p. 390, doi. 10.1007/s004390100510
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- Article