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There are 9448 results for: content related to: Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

  1. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 12, 15 June 2006, Pages: 1302–1304, Toshiyuki Yamamoto, Kiyoko Sameshima, Ken-ichi Sekido, Noriko Aida, Naomichi Matsumoto, Kenji Naritomi and Kenji Kurosawa

    Version of Record online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31297

  2. Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 358–362, Donna M. McDonald-McGinn, Karen W. Gripp, Richard E. Kirschner, Melissa K. Maisenbacher, Virginia Hustead, Galen M. Schauer, Kim M. Keppler-Noreuil, Karen L. Ciprero, Patrick Pasquariello Jr., Don LaRossa, Scott P. Bartlett, Linton A. Whitaker and Elaine H. Zackai

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30746

  3. 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

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    Index

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 925–962, 2010

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

  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. Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2024–2026, Kitiwan Rojnueangnit and Nathaniel H. Robin

    Version of Record online : 27 JUN 2013, DOI: 10.1002/ajmg.a.36004

  7. Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

    American Journal of Medical Genetics

    Volume 115, Issue 4, 30 December 2002, Pages: 245–268, M. Michael Cohen Jr.

    Version of Record online : 23 DEC 2002, DOI: 10.1002/ajmg.10982

  8. 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

  9. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  10. Genetic counseling for the 22q11.2 deletion

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 69–74, Donna M. McDonald-McGinn and Elaine H. Zackai

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ddrr.10

  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. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 2931–2936, Jia-Chi Wang, Michelle Steinraths, Linda Dang, Brenda Lomax, Patrice Eydoux, Tracy Stockley, Siu-Li Yong and Margot I. Van Allen

    Version of Record online : 22 OCT 2007, DOI: 10.1002/ajmg.a.31946

  13. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2416–2425, Nathaniel H. Robin, Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean-Pierre Lin, David R. Lynch, Shehla N. Mohammed, Roger F. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc D. Tischkowitz, Neil Stoodley, Richard J Leventer, Daniela T. Pilz and William B. Dobyns

    Version of Record online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31443

  14. Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report

    Journal of Clinical Ultrasound

    Volume 41, Issue S1, November/December 2013, Pages: 6–9, Ahmet Gul, Kemal Gungorduk, Isil Turan, Gokhan Yildirim, Ali Gedikbasi and Aykut Özdemir

    Version of Record online : 20 SEP 2012, DOI: 10.1002/jcu.21992

  15. 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

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    Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects

    Ultrasound in Obstetrics & Gynecology

    Volume 20, Issue 6, December 2002, Pages: 546–552, Professor R. Chaoui, K. D. Kalache, K. S. Heling, C. Tennstedt, C. Bommer and H. Körner

    Version of Record online : 24 DEC 2002, DOI: 10.1046/j.1469-0705.2002.00864.x

  17. 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

  18. 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

  19. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 35–42, Adriano Carotti, Maria Cristina Digilio, Gerardo Piacentini, Claudia Saffirio, Roberto M. Di Donato and Bruno Marino

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ddrr.6

  20. 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