Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 20
Results: 20
Single nucleotide polymorphisms in protein tyrosine phosphatase 1β (PTPN1) are associated with essential hypertension and obesity.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2545, doi. 10.1093/hmg/ddh283
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An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2385, doi. 10.1093/hmg/ddh278
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A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2351, doi. 10.1093/hmg/ddh277
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Disease associations and altered immune function in CD45 138G variant carriers.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2377, doi. 10.1093/hmg/ddh276
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Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2343, doi. 10.1093/hmg/ddh275
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Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2369, doi. 10.1093/hmg/ddh274
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A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2361, doi. 10.1093/hmg/ddh273
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Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2409, doi. 10.1093/hmg/ddh272
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Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2399, doi. 10.1093/hmg/ddh271
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Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2431, doi. 10.1093/hmg/ddh270
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RECQL4, mutated in the Rothmund–Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2421, doi. 10.1093/hmg/ddh269
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Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2535, doi. 10.1093/hmg/ddh268
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Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2519, doi. 10.1093/hmg/ddh267
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Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2505, doi. 10.1093/hmg/ddh266
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BRCA1 mRNA expression levels as an indicator of chemoresistance in lung cancer.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2443, doi. 10.1093/hmg/ddh260
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Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2483, doi. 10.1093/hmg/ddh264
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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2473
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Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2461, doi. 10.1093/hmg/ddh262
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Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2451, doi. 10.1093/hmg/ddh261
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2493, doi. 10.1093/hmg/ddh265
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