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There are 1813 results for: content related to: Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome

  1. You have free access to this content
    Making sense of cilia in disease: The human ciliopathies

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 281–295, Kate Baker and Philip L. Beales

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30231

  2. Bardet-Biedl Syndrome, an Oligogenic Disease

    Standard Article


    Yangfan Liu, Norann A Zaghloul and Nicholas Katsanis

    Published Online : 28 SEP 2007, DOI: 10.1002/9780470015902.a0020227

  3. Bardet-Biedl Syndrome

    Standard Article

    Management of Genetic Syndromes

    Anne M. Slavotinek

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs009

  4. Bardet-Biedl Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 111–127, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch9

  5. You have free access to this content
    Ciliopathies: The Trafficking Connection


    Volume 15, Issue 10, October 2014, Pages: 1031–1056, Kayalvizhi Madhivanan and Ruben Claudio Aguilar

    Article first published online : 11 AUG 2014, DOI: 10.1111/tra.12195

  6. A review of the literature of Bardet–Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty

    Obesity Reviews

    Volume 3, Issue 2, May 2002, Pages: 123–135, S. Iannello, P. Bosco, A. Cavaleri, M. Camuto, P. Milazzo and F. Belfiore

    Article first published online : 23 APR 2002, DOI: 10.1046/j.1467-789X.2002.00055.x

  7. You have free access to this content
    Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 263–280, Magdalena Cardenas-Rodriguez and Jose L. Badano

    Article first published online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30227

  8. Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 172–177, O. M'hamdi, C. Redin, C. Stoetzel, I. Ouertani, M. Chaabouni, F. Maazoul, R. M'rad, J.L. Mandel, H. Dollfus, J. Muller and H. Chaabouni

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12129

  9. BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

    Human Mutation

    Volume 32, Issue 6, June 2011, Pages: 610–619, Catherine Deveault, Gail Billingsley, Jacque L. Duncan, Jenea Bin, Rebecca Theal, Ajoy Vincent, Karen J. Fieggen, Christina Gerth, Nima Noordeh, Elias I. Traboulsi, Gerald A. Fishman, David Chitayat, Tanja Knueppel, José M. Millán, Francis L. Munier, Debra Kennedy, Samuel G. Jacobson, A. Micheil Innes, Grant A. Mitchell, Kym Boycott and Elise Héon

    Article first published online : 22 MAR 2011, DOI: 10.1002/humu.21480

  10. Bardet-Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: 429–436, Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Ruth Riise, Val C. Sheffield, Thomas Rosenberg and Karen Brøndum-Nielsen

    Article first published online : 29 JAN 2010, DOI: 10.1002/humu.21204

  11. You have full text access to this OnlineOpen article
    Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 2, March 2014, Pages: 124–133, María González-del Pozo, Cristina Méndez-Vidal, Javier Santoyo-Lopez, Alicia Vela-Boza, Nereida Bravo-Gil, Antonio Rueda, Luz García-Alonso, Carmen Vázquez-Marouschek, Joaquín Dopazo, Salud Borrego and Guillermo Antiñolo

    Article first published online : 3 DEC 2013, DOI: 10.1002/mgg3.50

  12. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 521–529, J.-J. Braun, V. Noblet, M. Durand, S. Scheidecker, A. Zinetti-Bertschy, J. Foucher, V. Marion, J. Muller, S. Riehm, H. Dollfus and S. Kremer

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12391

  13. Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 4, 1 February 2005, Pages: 352–360, Susan J. Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, Benvon C. Cramer, John C.S. Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson and Patrick S. Parfrey

    Article first published online : 6 JAN 2005, DOI: 10.1002/ajmg.a.30406

  14. Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 482–488, SJ Genuis and RA Lobo

    Article first published online : 22 MAY 2010, DOI: 10.1111/j.1399-0004.2010.01475.x

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    The Human Obesity Gene Map: The 2005 Update


    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Article first published online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  16. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 161–166, C. Sathya Priya, P. Sen, V. Umashankar, N. Gupta, M. Kabra, G. Kumaramanickavel, C. Stoetzel, H. Dollfus and S. Sripriya

    Article first published online : 18 FEB 2014, DOI: 10.1111/cge.12342

  17. Unmasking the ciliopathies: craniofacial defects and the primary cilium

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 6, November/December 2015, Pages: 637–653, Claudio R. Cortés, Vicki Metzis and Carol Wicking

    Article first published online : 14 JUL 2015, DOI: 10.1002/wdev.199

  18. Ciliary dysfunction and obesity

    Clinical Genetics

    Volume 77, Issue 1, January 2010, Pages: 18–27, CA Mok, E Héon and M Zhen

    Article first published online : 23 NOV 2009, DOI: 10.1111/j.1399-0004.2009.01305.x

  19. Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype

    American Journal of Medical Genetics

    Volume 78, Issue 5, 6 August 1998, Pages: 461–467, Terry-Lynn Young, Mike O. Woods, Patrick S. Parfrey, Jane S. Green, Elizabeth O'Leary, Donna Hefferton and William S. Davidson

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980806)78:5<461::AID-AJMG12>3.0.CO;2-D

  20. Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 283–287, Elise Héon, Carol Westall, Rivka Carmi, Khalil Elbedour, Carole Panton, Leslie MacKeen, Edwin M. Stone and Val C. Sheffield

    Article first published online : 15 DEC 2004, DOI: 10.1002/ajmg.a.30466