1 to 10 of 11 literature results

• Common genetic variants on 5p14.1 associate with autism spectrum disorders.

  Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal …

  Authors: Kai Wang, Haitao Zhang, Deqiong Ma, Maja Bucan, Joseph T Glessner, Brett S Abrahams, Daria Salyakina, Marcin Imielinski, Jonathan P Bradfield, Patrick M A Sleiman,…

  Source: Nature. 2009 May 28

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• Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

  Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary …

  Authors: Maricela Alarcón, Brett S Abrahams, Jennifer L Stone, Jacqueline A Duvall, Julia V Perederiy, Jamee M Bomar, Jonathan Sebat, Michael Wigler, Christa L Martin, David H Ledbetter,…

  Source: American journal of human genetics. 2008 Jan

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• Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

  Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology. We identified a de novo chromosome …

  Authors: Betul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, Abha R Gupta, Jesse F Abelson, Thomas M Morgan, Katarzyna Chawarska, Ami Klin, A Gulhan Ercan-Sencicek, Althea A Stillman,…

  Source: American journal of human genetics. 2008 Jan

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• Advances in autism genetics: on the threshold of a new neurobiology.

  Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has …

  Authors: Brett S Abrahams, Daniel H Geschwind

  Source: Nature reviews. Genetics. 2008 May

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• Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.

  Fierce (frc) mice are deleted for nuclear receptor 2e1 (Nr2e1), and exhibit cerebral hypoplasia, blindness, and extreme aggression. To characterize th…

  Authors: Brett S Abrahams, Grace M Mak, Melissa L Berry, Diana L Palmquist, Jennifer R Saionz, Alice Tay, Y H Tan, Sydney Brenner, Elizabeth M Simpson, Byrappa Venkatesh

  Source: Genomics. 2002 Jul

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• A functional genetic link between distinct developmental language disorders.

  BACKGROUND: Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathwa…

  Authors: Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,…

  Source: The New England journal of medicine. 2008 Nov 27

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• Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing.

  Nuclear receptor 2E1 gene (NR2E1) resides within a 6q21-22 locus for bipolar disorder and schizophrenia. Mice deleted for Nr2e1 show altered neurogene…

  Authors: Ravinesh A Kumar, Kevin A McGhee, Stephen Leach, Russell Bonaguro, Alan Maclean, Rosalia Aguirre-Hernandez, Brett S Abrahams, Emil F Coccaro, Sheilagh Hodgins, Gustavo Turecki,…

  Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2008 Sep 5

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• Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.

  Fierce" mice, homozygous for the deletion of nuclear receptor 2E1 (NR2E1), show abnormal brain-eye development and pathological aggression. To evaluat…

  Authors: Brett S Abrahams, Melvin C H Kwok, Eric Trinh, Saeed Budaghzadeh, Sazzad M Hossain, Elizabeth M Simpson

  Source: The Journal of neuroscience : the official journal of the Society for Neuroscience. 2005 Jul 6

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• Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

  The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important rol…

  Authors: Maja Bucan, Brett S Abrahams, Kai Wang, Joseph T Glessner, Edward I Herman, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Marcin Imielinski, Dexter Hadley, Jonathan P Bradfield,…

  Source: PLoS genetics. 2009 Jun

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• Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice.

  The exceptional value of gene targeting technology to generate mouse models of human disease exists under the shadow of potential genetic errors. We p…

  Authors: Ravinesh A Kumar, Ka Ling Chan, Ambrose H W Wong, Ken Q Little, Evica Rajcan-Separovic, Brett S Abrahams, Elizabeth M Simpson

  Source: Genesis (New York, N.Y. : 2000). 2004 Feb

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