Search Results

There are 5616 results for: content related to: Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

  1. The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1797–1806, Elaine Tam, Edwin J. Young, Colleen A. Morris, Christian R. Marshall, Wayne Loo, Stephen W. Scherer, Carolyn B. Mervis and Lucy R. Osborne

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32360

  2. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

    American Journal of Medical Genetics Part A

    Francesco Nicita, Giacomo Garone, Alberto Spalice, Salvatore Savasta, Pasquale Striano, Chiara Pantaleoni, Maria Valentina Spartà, Gerhard Kluger, Giuseppe Capovilla, Dario Pruna, Elena Freri, Stefano D'Arrigo and Alberto Verrotti

    Article first published online : 5 OCT 2015, DOI: 10.1002/ajmg.a.37410

  3. Molecular Genetics of Williams–Beuren Syndrome

    Standard Article


    Giuseppe Merla, Lucia Micale, Carmela Fusco and Maria Nicla Loviglio

    Published Online : 15 JAN 2012, DOI: 10.1002/9780470015902.a0022436

  4. 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

    Article first published online : 26 MAR 2009, DOI: 10.1002/emmm.200900003

  5. Atypical Williams syndrome in an infant with complete atrioventricular canal defect

    American Journal of Medical Genetics Part A

    Rebecca C. Ahrens-Nicklas, Sara L. Reichert, Elaine H. Zackai and Paige B. Kaplan

    Article first published online : 14 AUG 2015, DOI: 10.1002/ajmg.a.37288

  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

    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

    Article first published online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37360

  7. Diagnosis and management of medical problems in adults with Williams–Beuren syndrome

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

    Volume 145C, Issue 3, 15 August 2007, Pages: 280–290, Barbara R. Pober and Colleen A. Morris

    Article first published online : 18 JUL 2007, DOI: 10.1002/ajmg.c.30139

  8. 7q11.23 Microduplication: a recognizable phenotype

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 155–161, A Dixit, S McKee, S Mansour, SG Mehta, GA Tanteles, V Anastasiadou, PC Patsalis, K Martin, S McCullough, M Suri and A Sarkar

    Article first published online : 8 APR 2012, DOI: 10.1111/j.1399-0004.2012.01862.x

  9. 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

    Article first published online : 23 JAN 2003, DOI: 10.1002/ajmg.a.10205

  10. Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 487–491, J. Euteneuer, C.M.B. Carvalho, S. Kulkarni, M. Vineyard, R. Mark Grady, J.R. Lupski and M. Shinawi

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12305

  11. 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

    Article first published online : 26 MAR 2009, DOI: 10.1002/emmm.200900007

  12. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 527–533, Maria Delio, Kathleen Pope, Tao Wang, Joy Samanich, Chad R. Haldeman-Englert, Paige Kaplan, Tamim H. Shaikh, Jinlu Cai, Robert W. Marion, Bernice E. Morrow and Melanie Babcock

    Article first published online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35784

  13. Familial Williams-Beuren syndrome showing varying clinical expression

    American Journal of Medical Genetics

    Volume 98, Issue 4, 1 February 2001, Pages: 324–329, Rainer Pankau, Reiner Siebert, Monika Kautza, Reinhard Schneppenheim, Angela Gosch, Armin Wessel and Carl-Joachim Partsch

    Article first published online : 19 JAN 2001, DOI: 10.1002/1096-8628(20010201)98:4<324::AID-AJMG1103>3.0.CO;2-5

  14. Facial phenotype at different ages and cardiovascular malformations in children with Williams–Beuren syndrome: A study from India

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1729–1734, Siddaramappa J. Patil, B.G. Madhusudhan, Sejal Shah and P.V. Suresh

    Article first published online : 24 MAY 2012, DOI: 10.1002/ajmg.a.35443

  15. De novo duplication and deletions at 7q in a three-generation family

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1493–1497, Bertrand Isidor, Olaya Villa, Olivier Pichon, Annaig Briand, Damien Poulain, Pierre Boisseau, Luis Alberto Pérez-Jurado and Cédric Le Caignec

    Article first published online : 10 MAY 2012, DOI: 10.1002/ajmg.a.35332

  16. You have free access to this content
    Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions

    Autism Research

    Volume 4, Issue 1, February 2011, Pages: 28–39, Takeshi Sakurai, Nathan P. Dorr, Nagahide Takahashi, L. Alison McInnes, Gregory A. Elder and Joseph D. Buxbaum

    Article first published online : 3 DEC 2010, DOI: 10.1002/aur.169

  17. Williams–Beuren syndrome: novel risk alleles in transmitting parents

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 344–346, TD Babatz and RA Kumar

    Article first published online : 9 SEP 2008, DOI: 10.1111/j.1399-0004.2008.01084_2.x

  18. Behavioural features of Italian infants and young adults with Williams–Beuren syndrome

    Journal of Intellectual Disability Research

    Volume 55, Issue 2, February 2011, Pages: 121–131, C. Gagliardi, S. Martelli, A. Tavano and R. Borgatti

    Article first published online : 4 JAN 2011, DOI: 10.1111/j.1365-2788.2010.01376.x

  19. You have free access to this content
    Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome

    Protein Science

    Volume 13, Issue 10, October 2004, Pages: 2588–2599, Timothy A. Hinsley, Pamela Cunliffe, Hannah J. Tipney, Andrew Brass and May Tassabehji

    Article first published online : 1 JAN 2009, DOI: 10.1110/ps.04747604

  20. 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

    Article first published online : 13 APR 2010, DOI: 10.1002/ajmg.a.33365