Works matching IS 14345161 AND DT 2006 AND VI 51 AND IP 3
Results: 17
Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-β<sub>1-42</sub> and plasma apolipoprotein levels.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 171, doi. 10.1007/s10038-005-0341-x
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Expression of the Snurf–Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 236, doi. 10.1007/s10038-005-0351-8
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The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 189, doi. 10.1007/s10038-005-0343-8
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De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 161, doi. 10.1007/s10038-005-0340-y
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Polymorphism in the 3′-untranslated region of the thymidylate synthase gene and sensitivity of stomach cancer to fluoropyrimidine-based chemotherapy.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 155, doi. 10.1007/s10038-005-0339-4
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Association of IL8, CXCR2 and TNF-α polymorphisms and airway disease.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 196, doi. 10.1007/s10038-005-0344-7
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Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 180, doi. 10.1007/s10038-005-0342-9
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Austronesian origin of the 27-bp deletion of the erythrocyte band 3 gene in East Sepik, Papua New Guinea inferred from mtDNA analysis.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 244, doi. 10.1007/s10038-005-0352-7
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Axis inhibition protein 2 ( AXIN2) polymorphisms may be a risk factor for selective tooth agenesis.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 262, doi. 10.1007/s10038-005-0353-6
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Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 249, doi. 10.1007/s10038-005-0354-5
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A misquoted mutation in exon16 of the BRCA2 gene.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 258, doi. 10.1007/s10038-005-0347-4
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South Indian men with reduced CAG repeat length in the androgen receptor gene have an increased risk of prostate cancer.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 254, doi. 10.1007/s10038-005-0346-5
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Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.
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- 2006
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- Correction Notice
Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 204, doi. 10.1007/s10038-005-0345-6
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Molecular insights into the origins of the Shompen, a declining population of the Nicobar archipelago.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 217, doi. 10.1007/s10038-005-0349-2
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Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 209, doi. 10.1007/s10038-005-0348-3
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A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 227, doi. 10.1007/s10038-005-0350-9
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