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There are 12241 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. 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

    Article first published online : 14 AUG 2012, DOI: 10.1002/ajmg.a.35517

  2. 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

  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

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

  4. Speech and hearing in adults with 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3071–3079, Christina Persson, Vanda Friman, Sólveig Óskarsdóttir and Radi Jönsson

    Article first published online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35589

  5. 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

    Article first published online : 24 MAR 2008, DOI: 10.1002/ddrr.5

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

    Journal for Specialists in Pediatric Nursing

    Honor Nicholl, Carmel Doyle, Thelma Begley, Maryanne Murphy, Anne Lawlor and Helen Malone

    Article first published online : 27 MAR 2014, DOI: 10.1111/jspn.12078

  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

    Article first published online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31445

  8. 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

    Article first published online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32101

  9. Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

    Journal of Intellectual Disability Research

    Volume 56, Issue 6, June 2012, Pages: 641–651, G. Costain, E. W. C. Chow, P. N. Ray and A. S. Bassett

    Article first published online : 6 DEC 2011, DOI: 10.1111/j.1365-2788.2011.01510.x

  10. 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

  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

    Article first published online : 12 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00938.x

  12. 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

    Article first published online : 21 DEC 2011, DOI: 10.1002/ajmg.a.34250

  13. 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

    Article first published online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35485

  14. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2781–2787, Sean B. Herman, Tingwei Guo, Donna M. McDonald McGinn, Anna Blonska, Alan L. Shanske, Anne S. Bassett, Eva W.C. Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, M. Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly S. Emanuel, Bernice E. Morrow and and the International Chromosome 22q11.2 Consortium

    Article first published online : 3 OCT 2012, DOI: 10.1002/ajmg.a.35512

  15. Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome

    Journal of Intellectual Disability Research

    Volume 58, Issue 2, February 2014, Pages: 198–210, D. J. Karas, G. Costain, E. W. C. Chow and A. S. Bassett

    Article first published online : 29 OCT 2012, DOI: 10.1111/j.1365-2788.2012.01639.x

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

    Developmental Disabilities Research Reviews

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

    Article first published online : 24 MAR 2008, DOI: 10.1002/ddrr.3

  17. 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

    Article first published online : 2 APR 2008, DOI: 10.1002/ajmg.a.32256

  18. 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

    Article first published online : 6 MAR 2008, DOI: 10.1002/ajmg.a.32156

  19. You have full text access to this OnlineOpen article
    Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes

    Ultrasound in Obstetrics & Gynecology

    Volume 41, Issue 2, February 2013, Pages: 172–176, R. Bataeva, H. Bellsham-Revell, V. Zidere and L. D. Allan

    Article first published online : 31 JAN 2013, DOI: 10.1002/uog.11194

  20. Search for somatic 22q11.2 deletions in patients with conotruncal heart defects

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 165–169, Anita Rauch, Michael Hofbeck, Robert Cesnjevar, Andreas Koch, Ralf Rauch, Gernot Buheitel, Helmut Singer and Michael Weyand

    Article first published online : 12 JUN 2003, DOI: 10.1002/ajmg.a.20323