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There are 10123 results for: content related to: Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study

  1. Developmental perspectives on copy number abnormalities of the 22q11.2 region

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 201–218, TY Tan, CT Gordon, DJ Amor and PG Farlie

    Version of Record online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01456.x

  2. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 758–763, Winnie Courtens, Inge Schramme and Annick Laridon

    Version of Record online : 7 FEB 2008, DOI: 10.1002/ajmg.a.31910

  3. 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

  4. 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

  5. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

    Prenatal Diagnosis

    Volume 35, Issue 1, January 2015, Pages: 35–43, Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, Sylvie Jaillard, Jérôme Toutain, Marie-Laure Maurin, Jose Antonio Martínez-Conejero, Claire Beneteau, Aurélie Coussement, Denise Molina-Gomes, Nina Horelli-Kuitunen, Azzedine Aboura, Anne-Claude Tabet, Justine Besseau-Ayasse, Bettina Bessieres-Grattagliano, Giuseppe Simoni, Gustavo Ayala, Brigitte Benzacken and François Vialard

    Version of Record online : 16 SEP 2014, DOI: 10.1002/pd.4478

  6. Distal 22q11.2 microduplication encompassing the BCR gene

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3075–3081, Maria Descartes, Judy Franklin, Teresita Diaz de Ståhl, Arkadiusz Piotrowski, Carl E.G. Bruder, Jan P. Dumanski, Andrew J. Carroll and Fady M. Mikhail

    Version of Record online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32572

  7. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 2924–2930, Andrea C. Stachon, Berivan Baskin, Adam C. Smith, Andrea Shugar, Cheryl Cytrynbaum, Leona Fishman, Roberto Mendoza-Londono, Regan Klatt, Ahmed Teebi, Peter N. Ray and Rosanna Weksberg

    Version of Record online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32101

  8. 22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 1, 15 August 2005, Pages: 47–51, Marie-France Portnoï, Fanny Lebas, Nicolas Gruchy, Azarnouche Ardalan, Valérie Biran-Mucignat, Valérie Malan, Lina Finkel, Gilles Roger, Sarah Ducrocq, Francis Gold, Jean-Louis Taillemite and Sandrine Marlin

    Version of Record online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30847

  9. You have full text access to this OnlineOpen article
    Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 4, July 2015, Pages: 346–353, Valerie Lindgren, Anne McRae, Richard Dineen, Alexandria Saulsberry, George Hoganson and Michael Schrift

    Version of Record online : 16 APR 2015, DOI: 10.1002/mgg3.146

  10. An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1644–1649, Adam Diehl, Weiyi Mu, Denise Batista and Meral Gunay-Aygun

    Version of Record online : 30 MAR 2015, DOI: 10.1002/ajmg.a.37066

  11. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication

    Clinical Genetics

    Volume 73, Issue 2, February 2008, Pages: 160–164, S Yu, K Cox, K Friend, S Smith, R Buchheim, S Bain, J Liebelt, E Thompson and D Bratkovic

    Version of Record online : 12 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00938.x

  12. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 14, 15 July 2006, Pages: 1608–1613, Céline de La Rochebrochard, Géraldine Joly-Hélas, Alice Goldenberg, Isabelle Durand, Annie Laquerrière, Valentine Ickowicz, Pascale Saugier-Veber, Danièle Eurin, Hélène Moirot, Alain Diguet, Fabrice de Kergal, Coralie Tiercin, Bertrand Mace, Loïc Marpeau and Thierry Frebourg

    Version of Record online : 7 JUN 2006, DOI: 10.1002/ajmg.a.31227

  13. The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3054–3059, Maria Piccione, Davide Vecchio, Simona Cavani, Michela Malacarne, Mauro Pierluigi and Giovanni Corsello

    Version of Record online : 14 OCT 2011, DOI: 10.1002/ajmg.a.34275

  14. You have free access to this content
    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. Phenotypic variability of distal 22q11.2 copy number abnormalities

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1623–1633, Tiong Yang Tan, Amanda Collins, Paul A. James, George McGillivray, Zornitza Stark, Christopher T. Gordon, Richard J. Leventer, Kate Pope, Robin Forbes, John A. Crolla, Devika Ganesamoorthy, Trent Burgess, Damien L. Bruno, Howard R. Slater, Peter G. Farlie and David J. Amor

    Version of Record online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34051

  16. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 475–481, A.L. Mosca, P. Callier, L. Faivre, N. Marle, N. Mejean, C. Thauvin-Robinet, A. Masurel-Paulet, N. Madinier, C. Durand, G. Couillaud, S. Ragot, F. Huet, J.R. Teyssier and F. Mugneret

    Version of Record online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32665

  17. Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 509–513, Peter Agergaard, Charlotte Olesen, John Rosendahl Østergaard, Michael Christiansen and Karina Meden Sørensen

    Version of Record online : 2 FEB 2012, DOI: 10.1002/ajmg.a.34441

  18. You have free access to this content
    Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization

    Ultrasound in Obstetrics & Gynecology

    Volume 43, Issue 4, April 2014, Pages: 396–403, M. Chen, Y.-S. Yang, J.-C. Shih, W.-H. Lin, D.-J. Lee, Y.-S. Lin, C.-H. Chou, A. D. Cameron, N. A. Ginsberg, C.-A. Chen, M.-L. Lee and G.-C. Ma

    Version of Record online : 26 DEC 2013, DOI: 10.1002/uog.12550

  19. Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 12, December 2009, Pages: 2855–2859, Lucie Lafay-Cousin, Eric Payne, Douglas Strother, Judy Chernos, Michael Chan and Francois P. Bernier

    Version of Record online : 24 NOV 2009, DOI: 10.1002/ajmg.a.33119

  20. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

    Human Mutation

    Volume 26, Issue 2, August 2005, Pages: 78–83, R. Wieser, B. Fritz, R. Ullmann, I. Müller, M. Galhuber, C.T. Storlazzi, A. Ramaswamy, H. Christiansen, N. Shimizu and H. Rehder

    Version of Record online : 14 JUN 2005, DOI: 10.1002/humu.20195