Works matching IS 03406717 AND DT 2006 AND VI 120 AND IP 2
Results: 17
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome.
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- Human Genetics, 2006, v. 120, n. 2, p. 179, doi. 10.1007/s00439-006-0215-0
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Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.
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- Human Genetics, 2006, v. 120, n. 2, p. 270, doi. 10.1007/s00439-006-0217-y
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Detecting disease gene in DNA haplotype sequences by nonparametric dissimilarity test.
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- Human Genetics, 2006, v. 120, n. 2, p. 253, doi. 10.1007/s00439-006-0216-z
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Cyclin D1 splice variant and risk for non-Hodgkin lymphoma.
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- Human Genetics, 2006, v. 120, n. 2, p. 297, doi. 10.1007/s00439-006-0212-3
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The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.
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- Human Genetics, 2006, v. 120, n. 2, p. 293, doi. 10.1007/s00439-006-0211-4
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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
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- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Article
A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.
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- Human Genetics, 2006, v. 120, n. 2, p. 193, doi. 10.1007/s00439-006-0207-0
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- Article
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
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- Human Genetics, 2006, v. 120, n. 2, p. 262, doi. 10.1007/s00439-006-0205-2
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Variants in the HEPSIN gene are associated with prostate cancer in men of European origin.
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- Human Genetics, 2006, v. 120, n. 2, p. 187, doi. 10.1007/s00439-006-0204-3
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- Article
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
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- Human Genetics, 2006, v. 120, n. 2, p. 151, doi. 10.1007/s00439-006-0202-5
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Evidence for involvement of TRE-2 ( USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
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- Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7
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- Article
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
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- Human Genetics, 2006, v. 120, n. 2, p. 211, doi. 10.1007/s00439-006-0197-y
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- Article
A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.
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- Human Genetics, 2006, v. 120, n. 2, p. 160, doi. 10.1007/s00439-006-0195-0
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- Article
An angiotensin converting enzyme haplotype predicts survival in patients with end stage renal disease.
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- Human Genetics, 2006, v. 120, n. 2, p. 201, doi. 10.1007/s00439-006-0191-4
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- Article
Association analysis of SOD2 variants with methamphetamine psychosis in Japanese and Taiwanese populations.
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- Human Genetics, 2006, v. 120, n. 2, p. 243, doi. 10.1007/s00439-006-0189-y
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Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease.
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- Human Genetics, 2006, v. 120, n. 2, p. 285, doi. 10.1007/s00439-006-0221-2
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- Article
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
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- Human Genetics, 2006, v. 120, n. 2, p. 238, doi. 10.1007/s00439-006-0183-4
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- Article