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There are 2054860 results for: content related to: GPSM2 mutations in Chudley–McCullough syndrome

  1. GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 973–976, Rowida Almomani, Yu Sun, Emmelien Aten, Yvonne Hilhorst-Hofstee, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Yvonne M.C. Hendriks, Johan T. den Dunnen, Martijn H. Breuning, Marjolein Kriek and Gijs W.E. Santen

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35808

  2. Prenatal diagnosis of Chudley–McCullough syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 9, September 2016, Pages: 2426–2430, Teresa Chapman, Francisco A. Perez, Gisele E. Ishak and Dan Doherty

    Version of Record online : 17 JUN 2016, DOI: 10.1002/ajmg.a.37806

  3. Unique disease heritage of the Dutch-German Mennonite population

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 8, 15 April 2008, Pages: 1072–1087, Noelle C. Orton, A. Micheil Innes, Albert E. Chudley and N. Torben Bech-Hansen

    Version of Record online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32061

  4. Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley–McCullough syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1183–1188, Fabio Matteucci, Enrico Tarantino, Maria Cristina Bianchi, Cristina Cingolani, Bruno Fattori, Andrea Nacci and Francesco Ursino

    Version of Record online : 26 APR 2006, DOI: 10.1002/ajmg.a.31178

  5. Chudley-McCullough syndrome: Expanded phenotype and review of the literature

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 1, 15 May 2003, Pages: 71–76, Katherine Oelrich Welch, Mustafa Tekin, Walter E. Nance, Susan H. Blanton, Kathleen S. Arnos and Arti Pandya

    Version of Record online : 4 MAR 2003, DOI: 10.1002/ajmg.a.10180

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    Brothers with Chudley–McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 1, 1 January 2004, Pages: 74–78, Elsebet Østergaard, Vibeke Faurholt Pedersen, Elisabeth B. Skriver and Karen Brøndum-Nielsen

    Version of Record online : 24 JUN 2003, DOI: 10.1002/ajmg.a.20380

  7. Challenges of diagnosis in fetal alcohol syndrome and fetal alcohol spectrum disorder in the adult

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

    Volume 145C, Issue 3, 15 August 2007, Pages: 261–272, Albert E. Chudley, Andrea R. Kilgour, Meghan Cranston and Michelle Edwards

    Version of Record online : 19 JUL 2007, DOI: 10.1002/ajmg.c.30140

  8. Understanding FASD: Disability and Social Supports for Adult Offenders

    Fetal Alcohol Spectrum Disorder: Management and Policy Perspectives of FASD, First Edition

    E. Sharon Brintnell, Patricia G. Bailey, Anjili Sawhney, Laura Kreftin, Pages: 233–257, 2010

    Published Online : 15 NOV 2010, DOI: 10.1002/9783527632510.ch14

  9. Chudley-Mccullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities

    American Journal of Medical Genetics

    Volume 90, Issue 2, 17 January 2000, Pages: 127–130, Edmond G. Lemire and Gwendolyn P. Stoeber

    Version of Record online : 3 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000117)90:2<127::AID-AJMG8>3.0.CO;2-E

  10. Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study

    Clinical Genetics

    Volume 38, Issue 4, October 1990, Pages: 241–256, Albert E. Chudley, Manoranjan Ray, Jane A. Evans and Mary Cheang

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03577.x

  11. Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 304–307, Dieter Kotzot, Edda Haberlandt, Christine Fauth, Sara Baumgartner, Sabine Scholl-Bürgi and Gerd Utermann

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30727

  12. Segregation analysis of rare autosomal folate sensitive fragile sites

    American Journal of Medical Genetics

    Volume 46, Issue 2, 15 April 1993, Pages: 165–171, Pranati Samadder, Jane A. Evans and Dr. Albert E. Chudley

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320460213

  13. 46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies

    American Journal of Medical Genetics

    Volume 45, Issue 5, 1 March 1993, Pages: 589–593, Aubrey Milunsky, Xinli Huang, Jean A. Amos, Joel Herskowitz, Lindsay A. Farrer and Herman E. Wyandt

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320450514

  14. Cytogenetics of autosomal fragile sites: A Basque population study

    American Journal of Human Biology

    Volume 8, Issue 4, 1996, Pages: 473–481, M. I. Arrieta, E. Echarri, T. Nuñez, A. Gil, B. Criado and B. Martinez

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1520-6300(1996)8:4<473::AID-AJHB7>3.0.CO;2-Z

  15. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

    American Journal of Medical Genetics

    Volume 72, Issue 3, 31 October 1997, Pages: 339–342, H. Rothenmund, A. E. Chudley and A. J. Dawson

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971031)72:3<339::AID-AJMG17>3.0.CO;2-U

  16. Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases

    American Journal of Medical Genetics

    Volume 43, Issue 3, 1 June 1992, Pages: 535–538, Dr. Albert E. Chudley, Sylvia Kovnats and Manoranjan Ray

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320430307

  17. Genetic landmarks through philately – autism spectrum disorders: a genetic update

    Clinical Genetics

    Volume 65, Issue 5, May 2004, Pages: 352–357, AE Chudley

    Version of Record online : 17 MAR 2004, DOI: 10.1111/j.1399-0004.2004.0242.x

  18. Sensory Processing and Adaptive Behavior Deficits of Children Across the Fetal Alcohol Spectrum Disorder Continuum

    Alcoholism: Clinical and Experimental Research

    Volume 34, Issue 6, June 2010, Pages: 1022–1032, Joshua L. Carr, Sabrina Agnihotri and Michelle Keightley

    Version of Record online : 5 APR 2010, DOI: 10.1111/j.1530-0277.2010.01177.x

  19. Long-term survival in a patient with del(18)(q12.2q21.1)

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 1, 15 May 2003, Pages: 66–70, Brad T. Tinkle, Carol A. Christianson, Elizabeth K. Schorry, Thomas Webb and Robert J. Hopkin

    Version of Record online : 8 JAN 2003, DOI: 10.1002/ajmg.a.10217

  20. Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder

    Management of Genetic Syndromes

    Albert E. Chudley, Sally E. Longstaffe, Pages: 363–380, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch25