1 to 10 of 26 literature results

• Chaos in the embryo.

  Authors: David H Ledbetter

  Source: Nature medicine. 2009 May

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• Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

  Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We anal…

  Authors: Erin L Baldwin, Lorraine F May, April N Justice, Christa L Martin, David H Ledbetter

  Source: American journal of human genetics. 2008 Feb

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• Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

  Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We have analyzed copy …

  Authors: M Katharine Rudd, Julia Keene, Brian Bunke, Erin B Kaminsky, Margaret P Adam, Jennifer G Mulle, David H Ledbetter, Christa L Martin

  Source: Human molecular genetics. 2009 Aug 15

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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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• Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages.

  Miscarriage is a condition that affects 10%-15% of all clinically recognized pregnancies, most of which occur in the first trimester. Approximately 50…

  Authors: Anthony J Schaeffer, June Chung, Konstantina Heretis, Andrew Wong, David H Ledbetter, Christa Lese Martin

  Source: American journal of human genetics. 2004 Jun

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• Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

  Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large sam…

  Authors: Autism Genome Project Consortium, Peter Szatmari, Andrew D Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-Qing Liu, John B Vincent, Jennifer L Skaug, Ann P Thompson,…

  Source: Nature genetics. 2007 Mar

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• Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.

  15q11- q13 contains many imprinted genes, and undergoes duplicon-mediated rearrangements, including deletions, duplications and triplications, and gen…

  Authors: Laura B K Herzing, Edwin H Cook, David H Ledbetter

  Source: Human molecular genetics. 2002 Jul 15

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• The evolutionary origin of human subtelomeric homologies--or where the ends begin.

  The subtelomeric regions of human chromosomes are comprised of sequence homologies shared between distinct subsets of chromosomes. In the course of de…

  Authors: Christa Lese Martin, Andrew Wong, Alyssa Gross, June Chung, Judy A Fantes, David H Ledbetter

  Source: American journal of human genetics. 2002 Apr

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• Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

  Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical…

  Authors: Carlos Cardoso, Richard J Leventer, Heather L Ward, Kazuhito Toyo-Oka, June Chung, Alyssa Gross, Christa L Martin, Judith Allanson, Daniela T Pilz, Ann H Olney,…

  Source: American journal of human genetics. 2003 Apr

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• Gene patenting and licensing: the role of academic researchers and advocacy groups.

  The subject of human gene patenting has received a great deal of media attention, and many individuals and professional societies (including the Ameri…

  Authors: David H Ledbetter

  Source: Genetics in medicine : official journal of the American College of Medical Genetics. 2008 May

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