Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1907, doi. 10.1093/hmg/9.13.1907
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- Publication type:
- Article
Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 13
Results: 18
1
2
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1987, doi. 10.1093/hmg/9.13.1987
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- Publication type:
- Article
3
Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1995, doi. 10.1093/hmg/9.13.1995
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- Publication type:
- Article
4
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2001, doi. 10.1093/hmg/9.13.2001
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- Publication type:
- Article
5
Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and ...
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1967, doi. 10.1093/hmg/9.13.1967
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- Publication type:
- Article
6
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2019, doi. 10.1093/hmg/9.13.2019
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- Publication type:
- Article
7
Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor α gene and their relationship to bone mass variation in postmenopausal Italian women.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2043, doi. 10.1093/hmg/9.13.2043
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- Publication type:
- Article
8
The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus.
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- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1937, doi. 10.1093/hmg/9.13.1937
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- Publication type:
- Article
9
Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins.
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- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1977, doi. 10.1093/hmg/9.13.1977
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- Publication type:
- Article
10
Mutations in the a3 subunit of the vacuolar H[sup +]-ATPase cause infantile malignant osteopetrosis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2059, doi. 10.1093/hmg/9.13.2059
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- Publication type:
- Article
11
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1951, doi. 10.1093/hmg/9.13.1951
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- Publication type:
- Article
12
CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1957, doi. 10.1093/hmg/9.13.1957
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- Publication type:
- Article
13
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1927, doi. 10.1093/hmg/9.13.1927
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- Publication type:
- Article
14
Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2009, doi. 10.1093/hmg/9.13.2009
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- Publication type:
- Article
15
Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1943, doi. 10.1093/hmg/9.13.1943
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- Publication type:
- Article
16
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2051, doi. 10.1093/hmg/9.13.2051
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- Publication type:
- Article
17
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1919, doi. 10.1093/hmg/9.13.1919
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- Publication type:
- Article
18
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 13, p. 2029, doi. 10.1093/hmg/9.13.2029
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- Publication type:
- Article