Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 8
Results: 12
Functional analysis of cone–rod homeobox (CRX) mutations associated with retinal dystrophy.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 8, p. 873, doi. 10.1093/hmg/11.8.873
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- Article
Huntingtin inclusions do not deplete polyglutamine-containing transcription factors in HD mice.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 905
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- Article
PLUNC: A novel family of candidate host defence proteins expressed in the upper airways and nasopharynx.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 937, doi. 10.1093/hmg/11.8.937
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- Article
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 961, doi. 10.1093/hmg/11.8.961
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- Article
Activation of the β-like globin genes in transgenic mice is dependent on the presence of the β-locus control region.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 893, doi. 10.1093/hmg/11.8.893
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- Article
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 885, doi. 10.1093/hmg/11.8.885
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- Article
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 915, doi. 10.1093/hmg/11.8.915
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- Article
Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 945, doi. 10.1093/hmg/11.8.945
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- Article
Gene expression profiles of poor-prognosis primary breast cancer correlate with survival.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 863, doi. 10.1093/hmg/11.8.863
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- Article
Mutations in TITF-1 are associated with benign hereditary chorea.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 971, doi. 10.1093/hmg/11.8.971
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- Article
Functional polycystin-1 expression is developmentally regulated during epithelial morphogenesis in vitro: downregulation and loss of membrane localization during cystogenesis.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 923, doi. 10.1093/hmg/11.8.923
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- Article
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
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- Human Molecular Genetics, 2002, v. 11, n. 8, p. 981, doi. 10.1093/hmg/11.8.981
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- Article