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There are 19233 results for: content related to: Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

  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. Developmental trajectories in 22q11.2 deletion syndrome

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

    Volume 169, Issue 2, June 2015, Pages: 172–181, Ann Swillen and Donna McDonald-McGinn

    Version of Record online : 18 MAY 2015, DOI: 10.1002/ajmg.c.31435

  3. The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations. A population-based study

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 498–508, Peter Agergaard, Charlotte Olesen, John Rosendahl Østergaard, Michael Christiansen and Karina Meden Sørensen

    Version of Record online : 21 DEC 2011, DOI: 10.1002/ajmg.a.34250

  4. 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

  5. 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

  6. Phenotypic variability of atypical 22q11.2 deletions not including TBX1

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2412–2420, Judith M.A. Verhagen, Karin E.M. Diderich, Grétel Oudesluijs, Grazia M.S. Mancini, Alex J. Eggink, Anna C. Verkleij-Hagoort, Irene A.L. Groenenberg, Patrick J. Willems, Frederik A. du Plessis, Stella A. de Man, Malgorzata I. Srebniak, Diane van Opstal, Lorette O.M. Hulsman, Laura J.C.M. van Zutven and Marja W. Wessels

    Version of Record online : 14 AUG 2012, DOI: 10.1002/ajmg.a.35517

  7. Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 129–134, Åse Sivertsen, Rolv Terje Lie, Allen J. Wilcox, Frank Åbyholm, Hallvard Vindenes, Bjørn Ivar Haukanes and Gunnar Houge

    Version of Record online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31445

  8. 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

  9. Central 22q11.2 deletions

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2707–2723, Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren-Bemelmans, Hermine E. Veenstra-Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, Willie Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema-Raddatz, Trijnie Dijkhuizen and Conny M. van Ravenswaaij-Arts

    Version of Record online : 14 AUG 2014, DOI: 10.1002/ajmg.a.36711

  10. 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

  11. Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1134–1141, Luis Fernández, Pablo Lapunzina, Isidora López Pajares, María Palomares, Isabel Martínez, Blanca Fernández, José Quero, Luis García-Guereta, Alfredo García-Alix, Margarita Burgueros, Enrique Galán-Gómez, José María Carbonell-Pérez, Ángeles Pérez-Granero, Laura Torres-Juan, Damià Heine-Suñer, Jordi Rosell and Alicia Delicado

    Version of Record online : 2 APR 2008, DOI: 10.1002/ajmg.a.32256

  12. Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/Digeorge Syndrome)

    Management of Genetic Syndromes

    Donna M. McDonald-McGinn, Taisa Kohut, Elaine H. Zackai, Pages: 263–284, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch20

  13. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 26–34, Sarah E. Prasad, Sarah Howley and Kieran C. Murphy

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ddrr.5

  14. Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 797–807, Jonathan H. Chung, Jinlu Cai, Barrie G. Suskin, Zhengdong Zhang, Karlene Coleman and Bernice E. Morrow

    Version of Record online : 2 JUL 2015, DOI: 10.1002/humu.22814

  15. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 904–909, Gil Binenbaum, Donna M. McDonald-McGinn, Elaine H. Zackai, B. Michael Walker, Karlene Coleman, Amy M. Mach, Margaret Adam, Melanie Manning, Deborah M. Alcorn, Carrie Zabel, Dennis R. Anderson and Brian J. Forbes

    Version of Record online : 6 MAR 2008, DOI: 10.1002/ajmg.a.32156

  16. Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting

    Prenatal Diagnosis

    Anne S. Bassett, Gregory Costain and Christian R. Marshall

    Version of Record online : 14 NOV 2016, DOI: 10.1002/pd.4935

  17. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1278–1289, Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow and The International Chromosome 22q11.2 Consortium

    Version of Record online : 16 SEP 2011, DOI: 10.1002/humu.21568

  18. 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

  19. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 11–18, Beverly S. Emanuel

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ddrr.3

  20. Developing an information leaflet on 22q11.2 deletion syndrome for parents to use with professionals during healthcare encounters

    Journal for Specialists in Pediatric Nursing

    Volume 19, Issue 3, July 2014, Pages: 238–246, Honor Nicholl, Carmel Doyle, Thelma Begley, Maryanne Murphy, Anne Lawlor and Helen Malone

    Version of Record online : 27 MAR 2014, DOI: 10.1111/jspn.12078