1 to 10 of 47 literature results

• Finding the missing heritability of complex diseases.

  Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valu…

  Authors: Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,…

  Source: Nature. 2009 Oct 8

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• The remnants of galaxy formation from a panoramic survey of the region around M31.

  In hierarchical cosmological models, galaxies grow in mass through the continual accretion of smaller ones. The tidal disruption of these systems is e…

  Authors: Alan W McConnachie, Michael J Irwin, Rodrigo A Ibata, John Dubinski, Lawrence M Widrow, Nicolas F Martin, Patrick Côté, Aaron L Dotter, Julio F Navarro, Annette M N Ferguson,…

  Source: Nature. 2009 Sep 3

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• Prepublication data sharing.

  Rapid release of prepublication data has served the field of genomics well. Attendees at a workshop in Toronto recommend extending the practice to oth…

  Authors: Toronto International Data Release Workshop Authors, Ewan Birney, Thomas J Hudson, Eric D Green, Chris Gunter, Sean Eddy, Jane Rogers, Jennifer R Harris, S Dusko Ehrlich, Rolf Apweiler,…

  Source: Nature. 2009 Sep 10

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• Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.

  Linkage studies have implicated 10q22-q23 as a schizophrenia (SZ) susceptibility locus in Ashkenazi Jewish (AJ) and Han Chinese from Taiwan population…

  Authors: Pei-Lung Chen, Dimitrios Avramopoulos, Virginia K Lasseter, John A McGrath, M Daniele Fallin, Kung-Yee Liang, Gerald Nestadt, Ningping Feng, Gary Steel, Andrew S Cutting,…

  Source: American journal of human genetics. 2009 Jan

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• Familiality of novel factorial dimensions of schizophrenia.

  CONTEXT: Factor analysis of the signs and symptoms of schizophrenia yields dimensional phenotypes that may relate to underlying genetic variation. Exa…

  Authors: John A McGrath, Dimitrios Avramopoulos, Virginia K Lasseter, Paula S Wolyniec, M Daniele Fallin, Kung-Yee Liang, Gerald Nestadt, Mary H Thornquist, James R Luke, Pei-Lung Chen,…

  Source: Archives of general psychiatry. 2009 Jun

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• X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

  X-linked Mental Retardation (XLMR) occurs in 1 in 600 males and is highly genetically heterogeneous. We used a novel human X chromosome cDNA microarra…

  Authors: Lilei Zhang, Chunfa Jie, Cassandra Obie, Fatima Abidi, Charles E Schwartz, Roger E Stevenson, David Valle, Tao Wang

  Source: Genome research. 2007 May

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• Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

  Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and show…

  Authors: Sabine Weller, Ivelisse Cajigas, James Morrell, Cassandra Obie, Gary Steel, Stephen J Gould, David Valle

  Source: American journal of human genetics. 2005 Jun

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• Peroxisome biogenesis disorders.

  The peroxisome biogenesis disorders (PBDs) comprise 12 autosomal recessive complementation groups (CGs). The multisystem clinical phenotype varies wid…

  Authors: Sabine Weller, Stephen J Gould, David Valle

  Source: Annual review of genomics and human genetics. 2003

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• Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.

  Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members o…

  Authors: Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R Bill, Mathew C Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman,…

  Source: American journal of human genetics. 2007 May

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• Functional consequences of PRODH missense mutations.

  PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochond…

  Authors: Hans-Ulrich Bender, Shlomo Almashanu, Gary Steel, Chien-An Hu, Wei-Wen Lin, Alecia Willis, Ann Pulver, David Valle

  Source: American journal of human genetics. 2005 Mar

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