Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1575, doi. 10.1093/hmg/9.11.1575
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 11
Results: 17
1
2
Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1563, doi. 10.1093/hmg/9.11.1563
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- Publication type:
- Article
3
Expression of the PTEN tumour suppressor protein during human development.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1633, doi. 10.1093/hmg/9.11.1633
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- Publication type:
- Article
4
Therapeutic liver repopulation in a mouse model of hypercholesterolemia.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1597, doi. 10.1093/hmg/9.11.1597
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- Publication type:
- Article
5
A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1615, doi. 10.1093/hmg/9.11.1615
- By:
- Publication type:
- Article
6
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1709, doi. 10.1093/hmg/9.11.1709
- By:
- Publication type:
- Article
7
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1603, doi. 10.1093/hmg/9.11.1603
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- Publication type:
- Article
8
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1665, doi. 10.1093/hmg/9.11.1665
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- Publication type:
- Article
9
Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1651, doi. 10.1093/hmg/9.11.1651
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- Publication type:
- Article
10
Mammalian artificial chromosome formation from circular alphoid input DNA does not require telomere repeats.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1623, doi. 10.1093/hmg/9.11.1623
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- Publication type:
- Article
11
DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1671, doi. 10.1093/hmg/9.11.1671
- By:
- Publication type:
- Article
12
Paradoxical influence of acid β -galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1699, doi. 10.1093/hmg/9.11.1699
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- Publication type:
- Article
13
The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1567, doi. 10.1093/hmg/9.11.1567
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- Publication type:
- Article
14
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1681, doi. 10.1093/hmg/9.11.1681
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- Publication type:
- Article
15
Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1641, doi. 10.1093/hmg/9.11.1641
- By:
- Publication type:
- Article
16
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1691, doi. 10.1093/hmg/9.11.1691
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- Publication type:
- Article
17
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1587, doi. 10.1093/hmg/9.11.1587
- By:
- Publication type:
- Article