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- 1From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedNovel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of...
- 2From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedArsenic is a carcinogen that contaminates drinking water worldwide. Accumulating evidence suggests that both exposure and genetic factors may influence susceptibility to arsenic-induced malignancies. We sought to...
- 3From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedThe proportion of never smoker non-small cell lung cancer (NSCLC) in Asia is about 30-40%. Despite the striking demographics and high prevalence of never smoker NSCLC, the exact causes still remain undetermined....
- 4From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedReview of Aaron Gillette, Eugenics and the nature-nurture debate in the twentieth century 2007, paperback edition, 2011, New York: Palgrave Macmillan The central aim of this book is to show that the emergence of...
- 5From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedDystonias are a clinically and genetically heterogeneous group of movement disorders characterized by involuntary, sustained muscular contractions affecting one or more sites of the body, and abnormal postures. In this...
- 6From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedWe have surveyed 15 high-altitude adaptation candidate genes for signals of positive selection in North Caucasian highlanders using targeted re-sequencing. A total of 49 unrelated Daghestani from three ethnic groups...
- 7From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedFacioscapulohumeral muscular dystrophy (FS HD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness. Most patients...
- 8From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedThere is increasing evidence suggesting that higher intakes of fish or n-3 polyunsaturated fatty acids supplements may decrease the risk of preterm delivery (PTD). We hypothesized that genetic variants of the enzymes...
- 9From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedWaardenburg syndrome (WS) is an auditory-pigmentary disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is...
- 10From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedSchizophrenia is a complex genetic disorder. Gene set-based analytic (GSA) methods have been widely applied for exploratory analyses of large, high-throughput datasets, but less commonly employed for biological...
- 11From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedOver the last decade, the search for gene variants with the potential to influence transplant outcomes or predispose individuals to host-recipient-related phenotypes has generated a considerable number of studies with...
- 12From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedEpidermolysis bullosa simplex (EBS) is a skin disorder resulting from a weakened cytoskeleton of the proliferative compartment of the epidermis, leading to cell fragility and blistering. Although many mutations have...
- 13From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedBone size (BS) is one of the major risk factors for osteoporotic fractures. BS variation is genetically determined to a substantial degree with heritability over 50%, but specific genes underlying variation of BS are...
- 14From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedHeight is a highly heritable trait that involves multiple genetic loci. To identify causal variants that influence stature, we sequenced whole exomes of four children with idiopathic short stature. Ninety-five...
- 15From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedWe recently reported the results of a genomewide association study (GWAS) of schizophrenia in the Japanese population. In that study, a single nucleotide polymorphism (SNP) (rs3106653) in the KCNJ3 (potassium inwardly...
- 16From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedPostaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the...
- 17From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedIn the National Cancer Institute Cancer Genetic Markers of Susceptibility (CGEMS) genome-wide association study of breast cancer, a single nucleotide polymorphism (SNP) marker, rs999737, in the 14q24.1 interval, was...
- 18From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedRecent studies have identified common variants in or near GC, CYP2R1 and NADSYN1/DHCR7 to be associated with 25-hydroxyvitamin D [25(OH)D] levels in European populations. We aimed to examine whether these variants also...
- 19From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedAlstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis,...
- 20From: Human Genetics. (Vol. 131, Issue 3) Peer-ReviewedMen and women differ in susceptibility to many diseases and in responses to treatment. Recent advances in genome-wide association studies (GWAS) provide a wealth of data for associating genetic profiles with disease...