Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 1, doi. 10.1007/s00439-004-1204-9
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- Publication type:
- Article
Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 1/2
Results: 16
1
2
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: A potential factor in the pathogenesis of the Marfan syndrome.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 51, doi. 10.1007/s00439-004-1194-7
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- Publication type:
- Article
3
Hereditary hemorrhagic telangiectasia:ENGandALK-1mutations in Dutch patients.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 8, doi. 10.1007/s00439-004-1196-5
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- Publication type:
- Article
4
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 62, doi. 10.1007/s00439-004-1184-9
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- Publication type:
- Article
5
Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 128, doi. 10.1007/s00439-004-1188-5
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- Publication type:
- Article
6
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 28, doi. 10.1007/s00439-004-1203-x
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- Publication type:
- Article
7
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 33, doi. 10.1007/s00439-004-1210-y
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- Publication type:
- Article
8
A new locus for nonsyndromic deafnessDFNB49maps to chromosome 5q12.3-q14.1.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 17, doi. 10.1007/s00439-004-1205-8
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- Publication type:
- Article
9
Characterization of six novel mutations in theCYBBgene leading to different sub-types of X-linked chronic granulomatous disease.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 72, doi. 10.1007/s00439-004-1208-5
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- Publication type:
- Article
10
A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 83, doi. 10.1007/s00439-004-1195-6
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- Publication type:
- Article
11
Linkage disequilibrium between microsatellite markers in the Swedish Sami relative to a worldwide selection of populations.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 105, doi. 10.1007/s00439-004-1213-8
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- Publication type:
- Article
12
Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 43, doi. 10.1007/s00439-004-1214-7
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- Publication type:
- Article
13
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 23, doi. 10.1007/s00439-004-1199-2
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- Publication type:
- Article
14
The impact ofMECP2mutations in the expression patterns of Rett syndrome patients.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 91, doi. 10.1007/s00439-004-1200-0
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- Publication type:
- Article
15
Complex segregation analysis reveals a multigene model for lung cancer.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 121, doi. 10.1007/s00439-004-1212-9
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- Publication type:
- Article
16
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.
- Published in:
- Human Genetics, 2005, v. 116, n. 1/2, p. 114, doi. 10.1007/s00439-004-1192-9
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- Publication type:
- Article