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There are 2311913 results for: content related to: Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

  1. Velo-cardio-facial syndrome: 30 Years of study

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 3–10, Robert J. Shprintzen

    Article first published online : 24 MAR 2008, DOI: 10.1002/ddrr.2

  2. Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 388–390, Margherita Silengo, Giovanni Battista Ferrero, Lorella Tornetta, Maria Grazia Cortese, Ferdinando Canavese, Gabriella D'Alonzo and Francesco Papalia

    Article first published online : 11 FEB 2003, DOI: 10.1002/ajmg.a.20013

  3. Germline mosacism in Shprintzen–Goldberg syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1574–1578, Alan L. Shanske, James T. Goodrich, Leena Ala-Kokko, Stuart Baker, Barbara Frederick and Brynn Levy

    Article first published online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35388

  4. Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 251–262, Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth, Herbert Enders, Ursula Jung, Rainer König, Beate Mitulla, Dietmar Müller, Petra Muschke, Lutz Pfeiffer, Bettina Prager, Mirja Somer and Sigrid Tinschert

    Article first published online : 9 MAY 2005, DOI: 10.1002/ajmg.a.30431

  5. Late-Onset psychosis in the velo-cardio-facial syndrome

    American Journal of Medical Genetics

    Volume 42, Issue 1, 1 January 1992, Pages: 141–142, Dr. Robert J. Shprintzen, Rosalie Goldberg, Karen J. Golding-Kushner and Robert W. Marion

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420131

  6. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 3, 15 June 2003, Pages: 257–265, Meredith Wilson, David Mowat, Florence Dastot-Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton-Smith, Sharron Townshend, Cynthia Curry, Michael Gattas, Stephen Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey and Michel Goossens

    Article first published online : 18 MAR 2003, DOI: 10.1002/ajmg.a.20053

  7. Velo-cardio-facial syndrome: A review of 120 patients

    American Journal of Medical Genetics

    Volume 45, Issue 3, 1 February 1993, Pages: 313–319, Rosalie Goldberg, Beth Motzkin, Robert Marion, Peter J. Scambler and Robert J. Shprintzen

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320450307

  8. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 676–684, P.Y. Billie Au, Hilary E. Racher, John M. Graham Jr., Nancy Kramer, R. Brian Lowry, Jillian S. Parboosingh, A. Micheil Innes and FORGE Canada Consortium

    Article first published online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36340

  9. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 24, 15 December 2006, Pages: 2776–2785, Abee L. Boyles, David S. Enterline, Preston H. Hammock, Deborah G. Siegel, Susan H. Slifer, Lorraine Mehltretter, John R. Gilbert, Diane Hu-Lince, Dietrich Stephan, Ulrich Batzdorf, Edward Benzel, Richard Ellenbogen, Barth A. Green, Roger Kula, Arnold Menezes, Diane Mueller, John J. Oro', Bermans J. Iskandar, Timothy M. George, Thomas H. Milhorat and Marcy C. Speer

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31546

  10. Response to Kosaki et al. “Molecular pathology of Shprintzen–Goldberg syndrome”

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 109–110, Peter N. Robinson, Luitgard M. Neumann and Sigrid Tinschert

    Article first published online : 8 NOV 2005, DOI: 10.1002/ajmg.a.31007

  11. Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 22, 15 November 2007, Pages: 2642–2650, Wendy R. Kates, Kevin M. Antshel, Wanda P. Fremont, Robert J. Shprintzen, Leslie A. Strunge, Courtney P. Burnette and Anne Marie Higgins

    Article first published online : 15 OCT 2007, DOI: 10.1002/ajmg.a.32012

  12. 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

  13. Brain anomalies in velo-cardio-facial syndrome

    American Journal of Medical Genetics

    Volume 54, Issue 2, 15 June 1994, Pages: 100–106, Robin J. Mitnick, Jacqueline A. Bello and Robert J. Shprintzen

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320540204

  14. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 10, 15 May 2006, Pages: 1047–1058, L.C. Adès, K. Sullivan, A. Biggin, E.A. Haan, M. Brett, K.J. Holman, J. Dixon, S. Robertson, A.D. Holmes, J. Rogers and B. Bennetts

    Article first published online : 4 APR 2006, DOI: 10.1002/ajmg.a.31202

  15. Vasomotor instability in neonates with chromosome 22q11 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 121A, Issue 3, 1 September 2003, Pages: 231–234, Vandana Shashi, Margaret N. Berry and Michael H. Hines

    Article first published online : 5 MAY 2003, DOI: 10.1002/ajmg.a.20219

  16. You have free access to this content
    Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2665–2671, Alex Habel, Michael-John McGinn II, Elaine H. Zackai, Nancy Unanue and Donna M. McDonald-McGinn

    Article first published online : 18 JUN 2012, DOI: 10.1002/ajmg.a.35426

  17. The Influence of Related Conditions on Speech and Communication

    Cleft Palate Speech: Assessment and Intervention

    Christina Persson, Lotta Sjögreen, Pages: 41–53, 2013

    Published Online : 23 AUG 2013, DOI: 10.1002/9781118785065.ch3

  18. 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

    Article first published online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31443

  19. Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome

    American Journal of Medical Genetics

    Volume 67, Issue 5, 20 September 1996, Pages: 468–472, Herbert M. Lachman, Bernice Morrow, Robert Shprintzen, Sabine Veit, Sam S. Parsia, Gianni Faedda, Rosalie Goldberg, Raju Kucherlapati and Demitri F. Papolos

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960920)67:5<468::AID-AJMG5>3.0.CO;2-G

  20. Behavior in preschool children with the 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 94–101, Petra Klaassen, Sasja Duijff, Henriette Swanenburg de Veye, Jacob Vorstman, Frits Beemer and Gerben Sinnema

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35685