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There are 14956 results for: content related to: Genetic Studies of Prader–Willi Patients Provide Evidence for Conservation of Genomic Architecture in Proximal Chromosome 15q

  1. In search of the psychosis gene in people with Prader-Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 843–853, Tessa Webb, Esther N. Maina, Sarita Soni, Joyce Whittington, Harm Boer, David Clarke and Anthony Holland

    Version of Record online : 6 MAR 2008, DOI: 10.1002/ajmg.a.32212

  2. Analysis of the Prader-Willi syndrome chromosome region using quantitative microsphere hybridization (QMH) array

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2346–2354, H.L. Newkirk, D.C. Bittel and M.G. Butler

    Version of Record online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32459

  3. Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 47–52, MC Varela, F Kok, N Setian, CA Kim and CP Koiffmann

    Version of Record online : 22 DEC 2004, DOI: 10.1111/j.1399-0004.2005.00377.x

  4. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

    American Journal of Medical Genetics

    Volume 68, Issue 2, 20 January 1997, Pages: 195–206, Shinji Saitoh, Karin Buiting, Suzanne B. Cassidy, Jeffrey M. Conroy, Daniel J. Driscoll, James M. Gabriel, Gabriele Gillessen-Kaesbach, Christopher C. Glenn, Louise R. Greenswag, Bernhard Horsthemke, Ikuko Kondo, Katsuko Kuwajima, Norio Niikawa, Peter K. Rogan, Stuart Schwartz, James Seip, Charles A. Williams and Robert D. Nicholls

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970120)68:2<195::AID-AJMG15>3.0.CO;2-P

  5. Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1955–1962, Gabriela Calounova, Petra Hedvicakova, Eva Silhanova, Gabriela Kreckova and Zdenek Sedlacek

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32416

  6. The Prader-(Labhardt)-Willi Syndrome

    Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

    Eric Engel, Stylianos E. Antonarakis, Pages: 163–186, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch6

  7. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 2, 1 December 2005, Pages: 106–113, Trilochan Sahoo, Chad A. Shaw, Andrew S. Young, Nathan L. Whitehouse, Richard J. Schroer, Roger E. Stevenson and Arthur L. Beaudet

    Version of Record online : 11 NOV 2005, DOI: 10.1002/ajmg.a.31000

  8. You have free access to this content
    International scientific workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. May 2–3, 1991 Deleeuwenhorst, The Netherlands

    American Journal of Medical Genetics

    Volume 42, Issue 2, 15 January 1992, Pages: 231–269,

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.1320420222

  9. Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 854–860, Merlin G. Butler, William Fischer, Nataliya Kibiryeva and Douglas C. Bittel

    Version of Record online : 11 FEB 2008, DOI: 10.1002/ajmg.a.32249

  10. Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): An interdisciplinary study

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 5, 1 March 2007, Pages: 460–468, Maria Torrado, Veronica Araoz, Edgardo Baialardo, Karina Abraldes, Carmen Mazza, Gabriela Krochik, Blanca Ozuna, Vivian Leske, Silvia Caino, Virginia Fano and Lilien Chertkoff

    Version of Record online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31520

  11. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 1, 15 November 2004, Pages: 1–10, Yong-hui Jiang, Trilochan Sahoo, Ron C. Michaelis, Dani Bercovich, Jan Bressler, Catherine D. Kashork, Qian Liu, Lisa G. Shaffer, Richard J. Schroer, David W. Stockton, Richard S. Spielman, Roger E. Stevenson and Arthur L. Beaudet

    Version of Record online : 8 SEP 2004, DOI: 10.1002/ajmg.a.30297

  12. You have free access to this content
    Benefits and limitations of prenatal screening for Prader–Willi syndrome

    Prenatal Diagnosis

    Volume 37, Issue 1, January 2017, Pages: 81–94, Merlin G. Butler

    Version of Record online : 12 OCT 2016, DOI: 10.1002/pd.4914

  13. Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome

    Pediatrics International

    Volume 47, Issue 5, October 2005, Pages: 541–545, Shinsuke Ninomiya, Yuji Yokoyama, Masako Kawakami, Tomoka Une, Hidehiko Maruyama and Tsuneo Morishima

    Version of Record online : 28 SEP 2005, DOI: 10.1111/j.1442-200x.2005.02116.x

  14. Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR

    American Journal of Medical Genetics

    Volume 35, Issue 4, April 1990, Pages: 536–545, Dr. C. A. Gregory, A. J. Kirkilionis, C. R. Greenberg, A. E. Chudley and J. L. Hamerton

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320350420

  15. Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

    American Journal of Medical Genetics

    Volume 70, Issue 3, 13 June 1997, Pages: 222–228, Stephan Eliez, Michael A. Morris, Sophie Dahoun-Hadorn, C. Dawn DeLozier-Blanchet, Arnaud Gos, Pierre Sizonenko and Stylianos E. Antonarakis

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970613)70:3<222::AID-AJMG3>3.0.CO;2-Y

  16. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 2, 1 June 2003, Pages: 180–183, C. Fridman, N. Hosomi, M.C. Varela, A.H. Souza, K. Fukai and C.P. Koiffmann

    Version of Record online : 8 MAY 2003, DOI: 10.1002/ajmg.a.20105

  17. Prader-Willi syndrome: Current understanding of cause and diagnosis

    American Journal of Medical Genetics

    Volume 35, Issue 3, March 1990, Pages: 319–332, Dr. Merlin G. Butler

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320350306

  18. Abstracts for the ninth annual scientific conference of the Prader-Willi Syndrome (PWS) Association

    American Journal of Medical Genetics

    Volume 62, Issue 3, 29 March 1996, Pages: 205–212, Paul M. Fernhoff

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960329)62:3<205::AID-AJMG1>3.0.CO;2-S

  19. A patient with Prader–Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 2, 30 August 2004, Pages: 176–179, Marion Werner, Ziva Ben-Neriah, Shira silverstein, Israela Lerer, Yudith Dagan and Dvorah Abeliovich

    Version of Record online : 27 JUL 2004, DOI: 10.1002/ajmg.a.20621

  20. Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

    American Journal of Medical Genetics

    Volume 94, Issue 3, 18 September 2000, Pages: 249–253, Cintia Fridman and Célia P. Koiffmann

    Version of Record online : 14 SEP 2000, DOI: 10.1002/1096-8628(20000918)94:3<249::AID-AJMG12>3.0.CO;2-X