Works in BMC Medical Genetics, 2012, Vol 13, Issue 1
Results: 124
Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 94, doi. 10.1186/1471-2350-13-94
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Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 86, doi. 10.1186/1471-2350-13-86
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The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 85, doi. 10.1186/1471-2350-13-85
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High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 84, doi. 10.1186/1471-2350-13-84
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A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 55, doi. 10.1186/1471-2350-13-55
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Leukotriene B<sub>4</sub> receptor locus gene characterisation and association studies in asthma.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-110
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Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-119
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Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-118
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In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-117
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Thymic stromal lymphopoietin gene promoter polymorphisms and expression levels in Graves' disease and Graves' ophthalmopathy.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-116
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Whole-exome sequencing of a pedigree segregating asthma.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-95
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Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-90
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Transferability and Fine Mapping of genome-wide associated loci for lipids in African Americans.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-88
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2350-13-71
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1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 124, doi. 10.1186/1471-2350-13-124
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Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 123, doi. 10.1186/1471-2350-13-123
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Genotype-phenotype correlation in 22q11.2 deletion syndrome.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 122, doi. 10.1186/1471-2350-13-122
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Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: A retrospective case control study.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 121, doi. 10.1186/1471-2350-13-121
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The CAG repeat polymorphism in the Androgen receptor gene modifies the risk for hypospadias in Caucasians.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 109, doi. 10.1186/1471-2350-13-109
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SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 108, doi. 10.1186/1471-2350-13-108
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A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 105, doi. 10.1186/1471-2350-13-105
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Association between XRCC1 polymorphism 399 G->A and glioma among Caucasians: a systematic review and meta-analysis.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 97, doi. 10.1186/1471-2350-13-97
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Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 120, doi. 10.1186/1471-2350-13-120
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Association of SELE genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 115, doi. 10.1186/1471-2350-13-115
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Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 114, doi. 10.1186/1471-2350-13-114
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Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 113, doi. 10.1186/1471-2350-13-113
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PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 112, doi. 10.1186/1471-2350-13-112
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Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 111, doi. 10.1186/1471-2350-13-111
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Association of IL-18 polymorphisms with rheumatoid arthritis and systemic lupus erythematosus in Asian populations: a meta-analysis.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 107, doi. 10.1186/1471-2350-13-107
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APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 106, doi. 10.1186/1471-2350-13-106
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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 104, doi. 10.1186/1471-2350-13-104
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Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: The Athero Gene Study.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 103, doi. 10.1186/1471-2350-13-103
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The contribution of FTO and UCP-1 SNPs to extreme obesity, diabetes and cardiovascular risk in Brazilian individuals.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 101, doi. 10.1186/1471-2350-13-101
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MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 100, doi. 10.1186/1471-2350-13-100
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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 98, doi. 10.1186/1471-2350-13-98
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Identification of 3 novel VHL germ-line mutations in Danish VHL patients.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 54, doi. 10.1186/1471-2350-13-54
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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 50, doi. 10.1186/1471-2350-13-50
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Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 99, doi. 10.1186/1471-2350-13-99
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Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN).
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 96, doi. 10.1186/1471-2350-13-96
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Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 93, doi. 10.1186/1471-2350-13-93
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T<sup>-786</sup>→C polymorphism of the endothelial nitric oxide synthase gene is associated with insulin resistance in patients with ischemic or non ischemic cardiomyopathy.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 92, doi. 10.1186/1471-2350-13-92
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Peripheral PDLIM5 expression in bipolar disorder and the effect of olanzapine administration.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 91, doi. 10.1186/1471-2350-13-91
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Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 89, doi. 10.1186/1471-2350-13-89
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Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 87, doi. 10.1186/1471-2350-13-87
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Quantitative global and gene-specific promoter methylation in relation to biological properties of neuroblastomas.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 83, doi. 10.1186/1471-2350-13-83
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Association of cytochrome P450 genetic polymorphisms with neoadjuvant chemotherapy efficacy in breast cancer patients.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 45, doi. 10.1186/1471-2350-13-45
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PNPLA 3 I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 82, doi. 10.1186/1471-2350-13-82
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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 80, doi. 10.1186/1471-2350-13-80
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UMOD as a susceptibility gene for end-stage renal disease.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 78, doi. 10.1186/1471-2350-13-78
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Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 44, doi. 10.1186/1471-2350-13-44
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