Heterogeneity of linkage disequilibriumin human genes has implications for association studies of commondiseases.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 4, p. 419, doi. 10.1093/hmg/11.4.419
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- Publication type:
- Article
Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 4
Results: 13
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KRIT1 association with the integrin-bindingprotein ICAP-1: a new direction in the elucidation of cerebral cavernousmalformations (CCM1) pathogenesis.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 389, doi. 10.1093/hmg/11.4.389
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- Publication type:
- Article
3
A candidate molecular mechanismfor the association of an intronic polymorphism of FE65 withresistance to very late onset dementia of the Alzheimer type.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 465
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- Publication type:
- Article
4
A human H19 transgeneexhibits impaired paternal-specific imprint acquisition and maintenancein mice.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 411, doi. 10.1093/hmg/11.4.411
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- Publication type:
- Article
5
Premutation and intermediate-size FMR1 alleles in 10 572 males from thegeneral population: loss of an AGG interruption is a late eventin the generation of fragile X syndrome alleles.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 371, doi. 10.1093/hmg/11.4.371
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- Publication type:
- Article
6
Genotype/phenotype correlationsof NPHS1 and NPHS2 mutations innephrotic syndrome advocate a functional inter-relationship in glomerularfiltration.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 4, p. 379, doi. 10.1093/hmg/11.4.379
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- Publication type:
- Article
7
Distinct PTEN mutationalspectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomascompared to sporadic microsatellite unstable tumors.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 445, doi. 10.1093/hmg/11.4.445
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- Publication type:
- Article
8
Categorization and characterizationof transcript-confirmed constitutively and alternatively spliced intronsand exons from human.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 451, doi. 10.1093/hmg/11.4.451
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- Publication type:
- Article
9
Breaks at telomeres and TRF2-independentend fusions in Fanconi anemia.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 439, doi. 10.1093/hmg/11.4.439
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- Publication type:
- Article
10
Twist haploinsufficiency in Saethre–Chotzensyndrome induces calvarial osteoblast apoptosis due to increasedTNFα expression and caspase-2 activation.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 4, p. 359, doi. 10.1093/hmg/11.4.359
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- Publication type:
- Article
11
Aire deficient mice develop multiplefeatures of APECED phenotype and show altered immune response.
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- Human Molecular Genetics, 2002, v. 11, n. 4, p. 397, doi. 10.1093/hmg/11.4.397
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- Publication type:
- Article
12
Differentiation-specific effectsof LHON mutations introduced into neuronal NT2 cells.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 4, p. 431, doi. 10.1093/hmg/11.4.431
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- Publication type:
- Article
13
Biochemical, pathologic and behavioralanalysis of a mouse model of glutaric acidemia type I.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 4, p. 347, doi. 10.1093/hmg/11.4.347
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- Publication type:
- Article