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There are 4937 results for: content related to: PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

  1. 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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  2. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2052–2064, John C. K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine L. Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Fossøy Stadheim, Claire L. S. Turner, Jacqueline N. Gauthier, Tyler E. Reimschisel, Athar M. Qureshi, Tabib A. Dabir, Mervyn W. Humphreys, Michael Marble, Taosheng Huang, Sarah J. Beal, Joanne Massiah, Emma-Jane Taylor and Sarah L. Wynn

    Article first published online : 11 JUN 2015, DOI: 10.1002/ajmg.a.37120

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    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

    Article first published online : 16 SEP 2014, DOI: 10.1002/pd.4478

  4. Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma

    Genes, Chromosomes and Cancer

    Volume 51, Issue 5, May 2012, Pages: 462–472, Reika Iwakawa, Hirokazu Okayama, Takashi Kohno, Aiko Sato-Otsubo, Seishi Ogawa and Jun Yokota

    Article first published online : 3 FEB 2012, DOI: 10.1002/gcc.21933

  5. 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

    Article first published online : 7 FEB 2008, DOI: 10.1002/ajmg.a.31910

  6. 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

    Article first published online : 5 APR 2010, DOI: 10.1002/ajmg.a.33216

  7. Pure subtelomeric microduplications as a cause of mental retardation

    Clinical Genetics

    Volume 72, Issue 4, October 2007, Pages: 362–368, EM Ruiter, DA Koolen, T Kleefstra, WM Nillesen, R Pfundt, N De Leeuw, BCJ Hamel, HG Brunner, EA Sistermans and BBA De Vries

    Article first published online : 31 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00874.x

  8. 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

    Article first published online : 26 NOV 2012, DOI: 10.1002/ajmg.b.32114

  9. 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

    Article first published online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01456.x

  10. 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

    Article first published online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31499

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    Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 111–122, Mathilde Nizon, Joris Andrieux, Caroline Rooryck, Marie-Christine de Blois, Emilie Bourel-Ponchel, Béatrice Bourgois, Odile Boute, Albert David, Bruno Delobel, Bénédicte Duban-Bedu, Fabienne Giuliano, Alice Goldenberg, Sarah Grotto, Delphine Héron, Houda Karmous-Benailly, Boris Keren, Didier Lacombe, Jean-Michel Lapierre, Cédric Le Caignec, Eric Le Galloudec, Martine Le Merrer, Anne-Gaëlle Le Moing, Michèle Mathieu-Dramard, Sylvie Nusbaum, Olivier Pichon, Lucile Pinson, Odile Raoul, Marlène Rio, Serge Romana, Agnès Roubertie, Laurence Colleaux, Catherine Turleau, Michel Vekemans, Rima Nabbout and Valérie Malan

    Article first published online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36807

  12. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2887–2891, Kathryn Anne Mooneyham, Kenton R. Holden, Sara Cathey, Alka Dwivedi, Barbara R. Dupont and Michael J. Lyons

    Article first published online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36708

  13. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2003–2012, Isabel Filges, Steven Sparagana, Michael Sargent, Kathryn Selby, Kamilla Schlade-Bartusiak, Gregg T. Lueder, Amy Robichaux-Viehoever, Bradley L. Schlaggar, Joshua S. Shimony and Marwan Shinawi

    Article first published online : 28 MAY 2014, DOI: 10.1002/ajmg.a.36605

  14. Genomic and clinical characteristics of microduplications in chromosome 17

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1101–1110, Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

  15. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2479–2483, Adriano Bonaldi, Juliana F. Mazzeu, Silvia S. Costa, Rachel S. Honjo, Débora R. Bertola, Lilian M.J. Albano, Isabel M. Furquim, Chong A. Kim and Angela M. Vianna-Morgante

    Article first published online : 9 SEP 2011, DOI: 10.1002/ajmg.a.34023

  16. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 318–325, S. Lohan, M. Spielmann, S.C. Doelken, R. Flöttmann, F. Muhammad, S.M. Baig, M. Wajid, W. Hülsemann, R. Habenicht, K.W. Kjaer, S.J. Patil, K.M. Girisha, H.H. Abarca-Barriga, S. Mundlos and E. Klopocki

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12352

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    Abnormal methylation of the common PARK2 and PACRG promoter is associated with downregulation of gene expression in acute lymphoblastic leukemia and chronic myeloid leukemia

    International Journal of Cancer

    Volume 118, Issue 8, 15 April 2006, Pages: 1945–1953, Xabier Agirre, José Román-Gómez, Iria Vázquez, Antonio Jiménez-Velasco, Leire Garate, Cristina Montiel-Duarte, Paula Artieda, Lucia Cordeu, Idoya Lahortiga, María José Calasanz, Anabel Heiniger, Antonio Torres, John D. Minna and Felipe Prósper

    Article first published online : 14 NOV 2005, DOI: 10.1002/ijc.21584

  18. 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

    Article first published online : 30 MAR 2012, DOI: 10.1002/pd.2934

  19. Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

    Prenatal Diagnosis

    Volume 31, Issue 6, June 2011, Pages: 571–577, Christopher Konialis, Birgitta Hagnefelt, Sophia Sevastidou, Sophia Karapanou, Katerina Pispili, Aggeliki Markaki and Constantinos Pangalos

    Article first published online : 29 MAR 2011, DOI: 10.1002/pd.2750

  20. 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

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33346