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There are 17531 results for: content related to: A novel 2.43 Mb deletion of 7q11.22–q11.23

  1. Periventricular nodular heterotopia and Williams syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 12, 15 June 2006, Pages: 1305–1311, Russell J. Ferland, John N. Gaitanis, Kira Apse, Umadevi Tantravahi, Christopher A. Walsh and Volney L. Sheen

    Version of Record online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31259

  2. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 154C, Issue 2, 15 May 2010, Pages: 220–228, Holly H. Hobart, Colleen A. Morris, Carolyn B. Mervis, Ariel M. Pani, Doris J. Kistler, Cecilia M. Rios, Kendra W. Kimberley, Ronald G. Gregg and Patricia Bray-Ward

    Version of Record online : 22 APR 2010, DOI: 10.1002/ajmg.c.30258

  3. Language and communicative development in Williams syndrome

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 13, Issue 1, 2007, Pages: 3–15, Carolyn B. Mervis and Angela M. Becerra

    Version of Record online : 26 FEB 2007, DOI: 10.1002/mrdd.20140

  4. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 1, November 15, 2003, Pages: 45–59, Colleen A. Morris, Carolyn B. Mervis, Holly H. Hobart, Ronald G. Gregg, Jacquelyn Bertrand, Gregory J. Ensing, Annemarie Sommer, Cynthia A. Moore, Robert J. Hopkin, Patricia A. Spallone, Mark T. Keating, Lucy Osborne, Kendra W. Kimberley and A. Dean Stock

    Version of Record online : 17 SEP 2003, DOI: 10.1002/ajmg.a.20496

  5. Children with 7q11.23 duplication syndrome: Psychological characteristics

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1436–1450, Carolyn B. Mervis, Bonita P. Klein-Tasman, Myra J. Huffman, Shelley L. Velleman, C. Holley Pitts, Danielle R. Henderson, Janet Woodruff-Borden, Colleen A. Morris and Lucy R. Osborne

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37071

  6. Rare genomic rearrangement in a boy with Williams–Beuren syndrome associated to XYY syndrome and intriguing behavior

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 3197–3203, Roberta L. Dutra, Flavia B. Piazzon, Évelin A. Zanardo, Thais Virginia Moura Machado Costa, Marília M. Montenegro, Gil M. Novo-Filho, Alexandre T. Dias, Amom M. Nascimento, Chong Ae Kim and Leslie D. Kulikowski

    Version of Record online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37360

  7. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

    American Journal of Medical Genetics

    Volume 90, Issue 4, 14 February 2000, Pages: 270–275, Peter von Dadelszen, David Chitayat, Elizabeth J.T. Winsor, Howard Cohen, Cathy MacDonald, Glen Taylor, Toby Rose and Lisa K. Hornberger

    Version of Record online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R

  8. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

    American Journal of Medical Genetics

    Volume 102, Issue 3, 15 August 2001, Pages: 261–265, Cokkie H. Wouters, Hanne J. Meijers-Heijboer, Bert J.F.M.M. Eussen, Annette A. van der Heide, Rob B. van Luijk, Ellen van Drunen, Berna B. Beverloo, Frank Visscher and Jan O. Van Hemel

    Version of Record online : 20 JUN 2001, DOI: 10.1002/ajmg.1468

  9. LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome

    BioEssays

    Volume 26, Issue 2, February 2004, Pages: 141–150, Casper C. Hoogenraad, Anna Akhmanova, Niels Galjart and Chris I. De Zeeuw

    Version of Record online : 21 JAN 2004, DOI: 10.1002/bies.10402

  10. Williams syndrome: From genotype through to the cognitive phenotype

    American Journal of Medical Genetics

    Volume 97, Issue 2, Summer 2000, Pages: 164–171, Dian Donnai and Annette Karmiloff-Smith

    Version of Record online : 28 NOV 2000, DOI: 10.1002/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F

  11. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1998–2002, Yuri A. Zarate, Tiffany Lepard, Elizabeth Sellars, Julie A. Kaylor, Maria P. Alfaro, Charles Sailey, G. Bradley Schaefer and R. Thomas Collins II.

    Version of Record online : 20 MAY 2014, DOI: 10.1002/ajmg.a.36601

  12. A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1285–1294, Stefania Gimelli, Jacqueline Chrast, Anwar Baban, Charlotte N. Henrichsen, Margherita Lerone, Orsetta Zuffardi, Giorgio Gimelli and Alexandre Reymond

    Version of Record online : 13 APR 2010, DOI: 10.1002/ajmg.a.33365

  13. High prevalence of diabetes and pre-diabetes in adults with Williams syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 154C, Issue 2, 15 May 2010, Pages: 291–298, B.R. Pober, E. Wang, S. Caprio, K.F. Petersen, C. Brandt, T. Stanley, L.R. Osborne, J. Dzuria and B. Gulanski

    Version of Record online : 22 APR 2010, DOI: 10.1002/ajmg.c.30261

  14. Portal hypertension in Williams syndrome: Report of two patients

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 372–376, Miguel Del Campo Casanelles, Juan José Gil-Fernández, Luis F. Magano Casero, Manuel García Bengoechea, Rosario Serrano, José María Fernández Rañada and Luis Alberto Pérez Jurado

    Version of Record online : 23 JAN 2003, DOI: 10.1002/ajmg.a.10205

  15. Williams Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 909–924, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch60

  16. Multisystem study of 20 older adults with Williams syndrome

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 3, 15 December 2004, Pages: 255–264, Elizabeth M. Cherniske, Thomas O. Carpenter, Cheryl Klaiman, Eytan Young, Joel Bregman, Karl Insogna, Robert T. Schultz and Barbara R. Pober

    Version of Record online : 8 NOV 2004, DOI: 10.1002/ajmg.a.30400

  17. You have full text access to this OnlineOpen article
    Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

    EMBO Molecular Medicine

    Volume 1, Issue 1, April 2009, Pages: 50–65, Hong Hua Li, Madhuri Roy, Unsal Kuscuoglu, Corinne M. Spencer, Birgit Halm, Katharine C. Harrison, Joseph H. Bayle, Alessandra Splendore, Feng Ding, Leslie A. Meltzer, Elena Wright, Richard Paylor, Karl Deisseroth and Uta Francke

    Version of Record online : 26 MAR 2009, DOI: 10.1002/emmm.200900003

  18. Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

    American Journal of Medical Genetics

    Volume 86, Issue 1, 3 September 1999, Pages: 34–43, Michael S. Wang, Albert Schinzel, Dieter Kotzot, Damina Balmer, Robin Casey, Bernie N. Chodirker, Jolanda Gyftodimou, Michael B. Petersen, Elana Lopez-Rangel and Wendy P. Robinson

    Version of Record online : 28 JUL 1999, DOI: 10.1002/(SICI)1096-8628(19990903)86:1<34::AID-AJMG7>3.0.CO;2-4

  19. You have full text access to this OnlineOpen article
    More than the sum of its parts: new mouse models for dissecting the genetic complexities of Williams–Beuren syndrome

    EMBO Molecular Medicine

    Volume 1, Issue 1, April 2009, Pages: 6–9, Andreas Meyer-Lindenberg

    Version of Record online : 26 MAR 2009, DOI: 10.1002/emmm.200900007

  20. “Everybody in the world is my friend” hypersociability in young children with Williams syndrome

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 3, 30 January 2004, Pages: 263–273, Teresa F. Doyle, Ursula Bellugi, Julie R. Korenberg and John Graham

    Version of Record online : 13 AUG 2003, DOI: 10.1002/ajmg.a.20416