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There are 7370 results for: content related to: 7q11.23 Microduplication: a recognizable phenotype

  1. Familial 7q11.23 duplication with variable phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2727–2730, Siddaramappa J. Patil, Smrithi Salian, Venkaraman Bhat, Katta Mohan Girisha, Yash Shrivastava, Kiran VS and Anilkumar Sapare

    Version of Record online : 24 JUN 2015, DOI: 10.1002/ajmg.a.37226

  2. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  3. Aortopathy in the 7q11.23 microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 363–370, Ashley Parrott, Jeanne James, Paula Goldenberg, Robert B. Hinton, Erin Miller, Amy Shikany, Arthur S. Aylsworth, Kathleen Kaiser-Rogers, Sunita J. Ferns, Seema R. Lalani and Stephanie M. Ware

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36859

  4. 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

  5. You have free access to this content
    Phenotype of 7q11.23 duplication: A family clinical series

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 114–119, Beth A. Earhart, Marian E. Williams, Irina Zamora, Linda Marie Randolph, Jodie K. Votava-Smith and Stephanie N. Marcy

    Version of Record online : 12 SEP 2016, DOI: 10.1002/ajmg.a.37966

  6. 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

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32360

  7. 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

  8. Microdeletion Syndromes

    Standard Article

    eLS

    Anne Slavotinek

    Published Online : 15 JAN 2012, DOI: 10.1002/9780470015902.a0005549.pub2

  9. Introductory comments on special section—Genomic microduplications: When adding may equal subtracting

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1063–1065, Carlos A. Bacino and Sau-Wai Cheung

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33346

  10. You have full text access to this OnlineOpen article
    Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

    Clinical Case Reports

    Volume 2, Issue 2, April 2014, Pages: 25–32, Livia Marcato, Licia Turolla, Eva Pompilii, Celine Dupont, Nicolas Gruchy, Simona De Toffol, Gabriella Bracalente, Severine Bacrot, Enzo Troilo, Anne C. Tabet, Sabrina Rossi, Anne L. Delezoïde, Demetrio Baldo, Nathalie Leporrier, Federico Maggi, Arnaud Molin, Gianluigi Pilu, Giuseppe Simoni, Francois Vialard and Francesca R. Grati

    Version of Record online : 6 FEB 2014, DOI: 10.1002/ccr3.48

  11. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 1, January 2013, Pages: 24–35, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Michael G. Harbord, John Entwistle, Suzanna Thompson, Damian Clark, Claire Pridmore, Eric Haan, Christopher Barnett, Lesley McGregor, Jan Liebelt, Elizabeth M. Thompson, Kathryn Friend, Sharon M. Bain, Dr. Sui Yu and John C. Mulley

    Version of Record online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32114

  12. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2426–2432, Anna Brunet, Elisabeth Gabau, Rosa Maria Perich, Laura Valdesoiro, Carme Brun, Maria Rosa Caballín and Miriam Guitart

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31499

  13. Prenatal BACs-on-BeadsTM: the prospective experience of five prenatal diagnosis laboratories

    Prenatal Diagnosis

    Volume 32, Issue 4, April 2012, Pages: 329–335, François Vialard, Giuseppe Simoni, Denise Molina Gomes, Azzedine Abourra, Simona De Toffol, Fabrice Bru, Maria Carmen Martinez Romero, Lucio Nitsch, Philippe Bouhanna, Livia Marcato, Thomas Popowski, Beatrice Grimi, Jose Antonio Martínez-Conejero, B. Benzacken, Rita Genesio and Francesca R. Grati

    Version of Record online : 30 MAR 2012, DOI: 10.1002/pd.2934

  14. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

    Prenatal Diagnosis

    Volume 35, Issue 8, August 2015, Pages: 801–809, Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B. Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega, Krzysztof Piotrowski, Rita Genesio, Gloria Queipo, Barbara Malvestiti, Bérénice Hervé, Brigitte Benzacken, Antonio Novelli, Philippe Vago, Kirsi Piippo, Tak Yeung Leung, Federico Maggi, Thibault Quibel, Anne Claude Tabet, Giuseppe Simoni and François Vialard

    Version of Record online : 24 JUN 2015, DOI: 10.1002/pd.4613

  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

    Version of Record online : 10 MAY 2012, DOI: 10.1002/ajmg.a.35332

  16. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 53–65, M Shoukier, N Klein, B Auber, J Wickert, J Schröder, B Zoll, P Burfeind, I Bartels, EA Alsat, M Lingen, P Grzmil, S Schulze, J Keyser, D Weise, M Borchers, E Hobbiebrunken, M Röbl, J Gärtner, K Brockmann and B Zirn

    Version of Record online : 21 FEB 2012, DOI: 10.1111/j.1399-0004.2012.01850.x

  17. Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study

    Clinical Genetics

    Y. Wang, Q. Cheng, L. Meng, C. Luo, H. Hu, J. Zhang, J. Cheng, T. Xu, T. Jiang, D. Liang, P. Hu and Z. Xu

    Version of Record online : 22 DEC 2016, DOI: 10.1111/cge.12926

  18. Challenges in clinical interpretation of microduplications detected by array CGH analysis

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1089–1100, Pawel Stankiewicz, Amber N. Pursley and Sau Wai Cheung

    Version of Record online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  19. The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

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

    Volume 145C, Issue 4, 15 November 2007, Pages: 335–345, Lisa G. Shaffer, Bassem A. Bejjani, Beth Torchia, Susan Kirkpatrick, Justine Coppinger and Blake C. Ballif

    Version of Record online : 1 OCT 2007, DOI: 10.1002/ajmg.c.30152

  20. You have full text access to this OnlineOpen article
    Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

    Prenatal Diagnosis

    Volume 32, Issue 10, October 2012, Pages: 976–985, Lisa G. Shaffer, Mindy P. Dabell, Allan J. Fisher, Justine Coppinger, Anne M. Bandholz, Jay W. Ellison, J. Britt Ravnan, Beth S. Torchia, Blake C. Ballif and Jill A. Rosenfeld

    Version of Record online : 2 AUG 2012, DOI: 10.1002/pd.3945