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There are 37748 results for: content related to: Chromosome 22q11.2 deletion syndrome associated with severe eczema

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. You have free access to this content
    Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

    Arthritis & Rheumatism

    Volume 40, Issue 3, March 1997, Pages: 430–436, Kathleen E. Sullivan, Donna M. McDonald-McGinn, Deborah A. Driscoll, Chester M. Zmijewski, Abdou S. Ellabban, Lori Reed, Beverly S. Emanuel, Elaine H. Zackai, Balu H. Athreya and Gregory Keenan

    Version of Record online : 12 DEC 2005, DOI: 10.1002/art.1780400307

  9. 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

  10. You have free access to this content
    Growth charts for 22q11 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2672–2681, Daniel C. Tarquinio, Marilyn C. Jones, Kenneth Lyons Jones and Lynne M. Bird

    Version of Record online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35485

  11. 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

  12. 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

  13. 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

  14. 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

  15. Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 574–580, Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, Leon-Charles Tranchevent, Marc Gewillig, Karel Allegaert, Joris R. Vermeesch, Yves Moreau and Prof. Koenraad Devriendt

    Version of Record online : 8 FEB 2012, DOI: 10.1002/ajmg.a.35217

  16. 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

  17. Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome

    Journal of Intellectual Disability Research

    Volume 58, Issue 1, January 2014, Pages: 31–47, T. M. Allen, J. Hersh, K. Schoch, K. Curtiss, S. R. Hooper and V. Shashi

    Version of Record online : 7 JUN 2013, DOI: 10.1111/jir.12054

  18. 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

  19. Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome

    American Journal of Medical Genetics

    Volume 101, Issue 1, 1 June 2001, Pages: 17–19, Deborah A. Elder, Kathleen Kaiser-Rogers, Arthur S. Aylsworth and Ali S. Calikoglu

    Version of Record online : 26 APR 2001, DOI: 10.1002/ajmg.1293

  20. A new account of the neurocognitive foundations of impairments in space, time, and number processing in children with chromosome 22q11.2 deletion syndrome

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 52–58, Tony J. Simon

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ddrr.8