Works matching IS 03406717 AND DT 2002 AND VI 111 AND IP 1
Results: 18
DNA polymorphisms in potential regulatory elements of the CFTR gene alter transcription factor binding.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 66, doi. 10.1007/s00439-002-0737-z
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- Publication type:
- Article
Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 31, doi. 10.1007/s00439-002-0739-x
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- Publication type:
- Article
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001: R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, £1595.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 113, doi. 10.1007/s00439-002-0759-6
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- Publication type:
- Article
SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 96, doi. 10.1007/s00439-002-0738-y
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- Publication type:
- Article
Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 88, doi. 10.1007/s00439-002-0758-7
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- Article
SLEB3 in systemic lupus erythematosus (SLE) is strongly related to SLE families ascertained through neuropsychiatric manifestations.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 54, doi. 10.1007/s00439-002-0743-1
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- Publication type:
- Article
Centromeric association of chromosome 16- and 18-derived microchromosomes.
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- Human Genetics, 2002, v. 111, n. 1, p. 16, doi. 10.1007/s00439-002-0744-0
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- Publication type:
- Article
The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 105, doi. 10.1007/s00439-002-0751-1
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- Publication type:
- Article
Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection.
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- Human Genetics, 2002, v. 111, n. 1, p. 102, doi. 10.1007/s00439-002-0747-x
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- Publication type:
- Article
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.
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- Human Genetics, 2002, v. 111, n. 1, p. 9, doi. 10.1007/s00439-002-0753-z
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- Publication type:
- Article
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 108, doi. 10.1007/s00439-002-0748-9
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- Publication type:
- Article
Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 1, doi. 10.1007/s00439-002-0769-4
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- Publication type:
- Article
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 75, doi. 10.1007/s00439-002-0763-x
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- Publication type:
- Article
Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 59, doi. 10.1007/s00439-002-0746-y
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- Publication type:
- Article
Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 46, doi. 10.1007/s00439-002-0740-4
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- Publication type:
- Article
A new locus for coeliac disease mapped to chromosome 15 in a population isolate.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 40, doi. 10.1007/s00439-002-0745-z
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- Publication type:
- Article
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 26, doi. 10.1007/s00439-002-0736-0
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- Publication type:
- Article
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
- Published in:
- 2002
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- Publication type:
- Erratum