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10 literature results
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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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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
Autism is a heterogeneous condition that is likely to result from the combined effects of multiple genetic factors interacting with environmental fact…
Authors: Yuhei Nishimura, Christa L Martin, Araceli Vazquez-Lopez, Sarah J Spence, Ana Isabel Alvarez-Retuerto, Marian Sigman, Corinna Steindler, Sandra Pellegrini, N Carolyn Schanen, Stephen T Warren,…
Source: Human molecular genetics. 2007 Jul 15
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The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombination.
Variation in social behavior and plumage in the white-throated sparrow (Zonotrichia albicollis) is linked to an inversion polymorphism on chromosome 2…
Authors: James W Thomas, Mario Cáceres, Joshua J Lowman, Caroline B Morehouse, Meghan E Short, Erin L Baldwin, Donna L Maney, Christa L Martin
Source: Genetics. 2008 Jul
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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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Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
Microarray-based comparative genomic hybridization can determine genome-wide copy number alterations at the kilobase level. We highlight the clinical …
Authors: Margaret P Adam, April N Justice, Susan Schelley, Andrea Kwan, Louanne Hudgins, Christa L Martin
Source: The Journal of pediatrics. 2009 Jan
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Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.
PURPOSE: Array comparative genomic hybridization is rapidly becoming an integral part of cytogenetic diagnostics. We report the design, validation, an…
Authors: Erin L Baldwin, Ji-Yun Lee, Douglas M Blake, Brian P Bunke, Chad R Alexander, Amy L Kogan, David H Ledbetter, Christa L Martin
Source: Genetics in medicine : official journal of the American College of Medical Genetics. 2008 Jun
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Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?
Authors: Fowzan S Alkuraya, Christa L Martin, Virginia E Kimonis
Source: Prenatal diagnosis. 2006 Mar
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infold…
Authors: William B Dobyns, Ghayda Mirzaa, Susan L Christian, Kristin Petras, Jessica Roseberry, Gary D Clark, Cynthia J R Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai,…
Source: American journal of medical genetics. Part A. 2008 Jul 1
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