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There are 7441 results for: content related to: Sleep-disordered breathing in Beckwith–Wiedemann syndrome: Three patients

  1. Beckwith-Wiedemann Syndrome and Hemihyperplasia

    Management of Genetic Syndromes

    Rosanna Weksberg, Cheryl Shuman, Bruce Beckwith, Pages: 129–148, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch10

  2. Brain abnormalities in patients with Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1388–1394, Kate Gardiner, David Chitayat, Sanaa Choufani, Cheryl Shuman, Susan Blaser, Deborah Terespolsky, Sandra Farrell, Rosemary Reiss, Shoshana Wodak, Shuye Pu, Peter N. Ray, Berivan Baskin and Rosanna Weksberg

    Version of Record online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35358

  3. KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

    Pediatric Blood & Cancer

    Volume 59, Issue 3, September 2012, Pages: 565–566, Mark Wijnen, Mariëlle Alders, Christian M. Zwaan, Anja Wagner and Marry M. van den Heuvel-Eibrink

    Version of Record online : 11 DEC 2011, DOI: 10.1002/pbc.23398

  4. Beckwith-Wiedemann Syndrome and Hemihyperplasia

    Standard Article

    Management of Genetic Syndromes

    Rosanna Weksberg and Cheryl Shuman

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs010

  5. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes

    Clinical Genetics

    Volume 81, Issue 4, April 2012, Pages: 350–361, J Demars and C Gicquel

    Version of Record online : 16 JAN 2012, DOI: 10.1111/j.1399-0004.2011.01822.x

  6. Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 2, February 2013, Pages: 331–337, Audrey Putoux, Audrey Labalme, Jean-Marie André, Marianne Till, Caroline Schluth-Bolard, Jérôme Berard, Yves Bertrand, Patrick Edery, Guy Putet and Damien Sanlaville

    Version of Record online : 15 JAN 2013, DOI: 10.1002/ajmg.a.35708

  7. Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

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

    Volume 137C, Issue 1, 15 August 2005, Pages: 53–71, Pablo Lapunzina

    Version of Record online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30064

  8. Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation

    Prenatal Diagnosis

    Volume 24, Issue 3, March 2004, Pages: 165–168, C. Le Caignec, C. Gicquel, M. C. Gubler, C. Guyot, M. C. You, A. Laurent, M. Joubert, N. Winer, A. David and J. M. Rival

    Version of Record online : 27 FEB 2004, DOI: 10.1002/pd.818

  9. Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith–Wiedemann syndrome and complete moles

    Histopathology

    Volume 39, Issue 5, November 2001, Pages: 447–454, F J Paradinas, N J Sebire, R A Fisher, H C Rees, M Foskett, M J Seckl and E S Newlands

    Version of Record online : 7 JUL 2008, DOI: 10.1046/j.1365-2559.2001.01256.x

  10. Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1707–1712, Kimberly J. Greer, Susan J. Kirkpatrick, Rosanna Weksberg and Richard M. Pauli

    Version of Record online : 10 JUN 2008, DOI: 10.1002/ajmg.a.32332

  11. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 192–197, Piranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, Valeria Romanelli, Jair Tenorio and Pablo Lapunzina

    Version of Record online : 29 NOV 2012, DOI: 10.1002/ajmg.a.35663

  12. The Beckwith-Wiedemann Syndrome (BWS)

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

    Eric Engel, Stylianos E. Antonarakis, Pages: 210–226, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch8

  13. Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1662–1669, Karen Y. Niederhoffer, Maria Peñaherrera, Denise Pugash, Rosemarie Rupps, Laura Arbour, Francine Tessier, Sanaa Choufani, Chunhua Zhao, Irina Manokhina, Cheryl Shuman, Wendy P. Robinson, Rosanna Weksberg and Cornelius F. Boerkoel

    Version of Record online : 21 MAY 2012, DOI: 10.1002/ajmg.a.35377

  14. New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1171–1182, Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El-Osta and Christine Gicquel

    Version of Record online : 8 SEP 2011, DOI: 10.1002/humu.21558

  15. DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith–Wiedemann syndrome

    Clinical Genetics

    Volume 79, Issue 6, June 2011, Pages: 546–553, S Tierling, NY Souren, S Reither, KD Zang, J Meng-Hentschel, D Leitner, B Oehl-Jaschkowitz and J Walter

    Version of Record online : 7 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01482.x

  16. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 13–20, Michal Inbar-Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum, Yi-An Chen, Leslie Steele, Cheryl Shuman, Peter N. Ray and Dr. Rosanna Weksberg

    Version of Record online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35651

  17. You have free access to this content
    Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 894–902, Frederic Brioude, Irène Netchine, Francoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert-Bellanger, Lydie Burglen, Fabienne Giuliano, Jean-Luc Alessandri, Valérie Cormier-Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Berenice Doray, Alain Verloes, Géraldine Viot, Yves Le Bouc and Sylvie Rossignol

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22824

  18. BENIGN BLADDER NECK POLYP AND URETEROPELVIC OBSTRUCTION IN BECKWITH-WIEDEMANN SYNDROME

    Australian and New Zealand Journal of Surgery

    Volume 61, Issue 12, December 1991, Pages: 955–957, Stanley Crankson and Saeed Ahmed

    Version of Record online : 21 JAN 2008, DOI: 10.1111/j.1445-2197.1991.tb00016.x

  19. Tumor risk in Beckwith–Wiedemann syndrome: A review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 95–104, P. Rump, M.P.A. Zeegers and A.J. van Essen

    Version of Record online : 10 MAY 2005, DOI: 10.1002/ajmg.a.30729

  20. Beckwith–Wiedemann syndrome

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

    Volume 137C, Issue 1, 15 August 2005, Pages: 12–23, Rosanna Weksberg, Cheryl Shuman and Adam C. Smith

    Version of Record online : 11 JUL 2005, DOI: 10.1002/ajmg.c.30058