Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 2
Results: 24
Identification of autosomal recessive disease loci using out-bred nuclear families.
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- Human Mutation, 2012, v. 33, n. 2, p. 338, doi. 10.1002/humu.21645
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CDH13 gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population.
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- Human Mutation, 2012, v. 33, n. 2, p. 402, doi. 10.1002/humu.21652
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Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon.
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- Human Mutation, 2012, v. 33, n. 2, p. 369, doi. 10.1002/humu.21663
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Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs.
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- Human Mutation, 2012, v. 33, n. 2, p. 359, doi. 10.1002/humu.21656
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Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
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- Human Mutation, 2012, v. 33, n. 2, p. 355, doi. 10.1002/humu.21649
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Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
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- Human Mutation, 2012, v. 33, n. 2, p. 456, doi. 10.1002/humu.22006
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The COL7A1 mutation database.
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- Human Mutation, 2012, v. 33, n. 2, p. 327, doi. 10.1002/humu.21651
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Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
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- Human Mutation, 2012, v. 33, n. 2, p. 440, doi. 10.1002/humu.21662
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Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
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- Human Mutation, 2012, v. 33, n. 2, p. 429, doi. 10.1002/humu.21659
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FZD6 is a novel gene for human neural tube defects.
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- Human Mutation, 2012, v. 33, n. 2, p. 384, doi. 10.1002/humu.21643
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CRB1 mutations in inherited retinal dystrophies.
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- Human Mutation, 2012, v. 33, n. 2, p. 306, doi. 10.1002/humu.21653
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Guidelines for establishing locus specific databases.
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- Human Mutation, 2012, v. 33, n. 2, p. 298, doi. 10.1002/humu.21646
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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
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- Human Mutation, 2012, v. 33, n. 2, p. 372, doi. 10.1002/humu.21644
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A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
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- Human Mutation, 2012, v. 33, n. 2, p. 391, doi. 10.1002/humu.21648
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Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
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- Human Mutation, 2012, v. 33, n. 2, p. 419, doi. 10.1002/humu.21655
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Curating gene variant databases (LSDBs): Toward a universal standard.
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- Human Mutation, 2012, v. 33, n. 2, p. 291, doi. 10.1002/humu.21626
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Planar cell polarity gene mutations in severe neural tube defects.
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- Human Mutation, 2012, v. 33, n. 2, p. v, doi. 10.1002/humu.22568
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Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
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- Human Mutation, 2012, v. 33, n. 2, p. 411, doi. 10.1002/humu.21654
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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
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- Human Mutation, 2012, v. 33, n. 2, p. 351, doi. 10.1002/humu.21650
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Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
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- Human Mutation, 2012, v. 33, n. 2, p. 316, doi. 10.1002/humu.21661
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Hansa: An automated method for discriminating disease and neutral human nsSNPs.
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- Human Mutation, 2012, v. 33, n. 2, p. 332, doi. 10.1002/humu.21642
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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.
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- Human Mutation, 2012, v. 33, n. 2, p. 343, doi. 10.1002/humu.21647
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VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans.
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- Human Mutation, 2012, v. 33, n. 2, p. 364, doi. 10.1002/humu.21658
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Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
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- Human Mutation, 2012, v. 33, n. 2, p. 448, doi. 10.1002/humu.21660
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