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There are 27672 results for: content related to: Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

  1. You have free access to this content
    Bardet–Biedl syndrome: Is it only cilia dysfunction?

    FEBS Letters

    Volume 589, Issue 22, November 14, 2015, Pages: 3479–3491, Rossina Novas, Magdalena Cardenas-Rodriguez, Florencia Irigoín and Jose L. Badano

    Version of Record online : 29 JUL 2015, DOI: 10.1016/j.febslet.2015.07.031

  2. Bardet-Biedl Syndrome, an Oligogenic Disease

    Standard Article

    eLS

    Yangfan Liu, Norann A Zaghloul and Nicholas Katsanis

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

  3. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 3–15, S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12737

  4. 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

    Version of Record online : 6 JAN 2005, DOI: 10.1002/ajmg.a.30406

  5. 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

    Version of Record online : 18 FEB 2014, DOI: 10.1111/cge.12342

  6. 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

    Version of Record online : 29 JAN 2010, DOI: 10.1002/humu.21204

  7. Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 553–559, E Ashkinadze, T Rosen, SS Brooks, N Katsanis and EE Davis

    Version of Record online : 14 OCT 2012, DOI: 10.1111/cge.12022

  8. No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick–Kaufman syndrome

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 32–34, Takaya Nakane and Leslie G. Biesecker

    Version of Record online : 15 AUG 2005, DOI: 10.1002/ajmg.a.30593

  9. Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 208–213, Christine Deffert, Florence Niel, Fanny Mochel, Catherine Barrey, Claudia Romana, Eric Souied, Corinne Stoetzel, Michel Goossens, Helene Dollfus, Alain Verloes, Emmanuelle Girodon and Marion Gerard-Blanluet

    Version of Record online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31585

  10. 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

    Version of Record online : 18 APR 2014, DOI: 10.1111/cge.12391

  11. You have full text access to this OnlineOpen article
    Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 343–349, E. Forsythe, K. Sparks, B.E. Hoskins, E. Bagkeris, B.M. McGowan, P.V. Carroll, M.S.B. Huda, S. Mujahid, C. Peters, T. Barrett, S. Mohammed and P.L. Beales

    Version of Record online : 8 APR 2014, DOI: 10.1111/cge.12373

    Corrected by:

    CORRIGENDUM: Corrigendum

    Vol. 89, Issue 5, 636, Version of Record online: 25 APR 2016

  12. Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions

    Journal of Comparative Neurology

    Volume 514, Issue 2, 10 May 2009, Pages: 174–188, Helen L. May-Simera, Alison Ross, Suzanne Rix, Andrew Forge, Philip L. Beales and Daniel J. Jagger

    Version of Record online : 5 MAR 2009, DOI: 10.1002/cne.22001

  13. Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 4, 1 February 2005, Pages: 343–346, Alessandro Iannaccone, Kirk Mykytyn, Antonio M. Persico, Charles C. Searby, Alfonso Baldi, Monica M. Jablonski and Val C. Sheffield

    Version of Record online : 14 JAN 2005, DOI: 10.1002/ajmg.a.30512

  14. 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

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30227

  15. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review

    American Journal of Medical Genetics

    Volume 95, Issue 3, 27 November 2000, Pages: 208–215, Anne M. Slavotinek and Leslie G. Biesecker

    Version of Record online : 17 NOV 2000, DOI: 10.1002/1096-8628(20001127)95:3<208::AID-AJMG5>3.0.CO;2-J

  16. You have free access to this content
    Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass

    Obesity

    Volume 21, Issue 8, August 2013, Pages: 1684–1689, Ruth Z. Birk, Sergey Ermakov and Gregory Livshits

    Version of Record online : 17 MAY 2013, DOI: 10.1002/oby.20056

  17. A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

    Clinical Genetics

    Volume 78, Issue 5, November 2010, Pages: 424–431, AM Innes, KM Boycott, EG Puffenberger, D Redl, IM MacDonald, AE Chudley, C Beaulieu, R Perrier, T Gillan, A Wade and JS Parboosingh

    Version of Record online : 7 JUN 2010, DOI: 10.1111/j.1399-0004.2010.01481.x

  18. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 523–531, V Bennouna-Greene, S Kremer, C Stoetzel, D Christmann, C Schuster, M Durand, A Verloes, S Sigaudy, M Holder-Espinasse, J Godet, C Brandt, V Marion, A Danion, J-L Dietemann and H Dollfus

    Version of Record online : 25 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01688.x

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

    Traffic

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

    Version of Record online : 11 AUG 2014, DOI: 10.1111/tra.12195

  20. You have full text access to this OnlineOpen article
    The Leishmania major BBSome subunit BBS1 is essential for parasite virulence in the mammalian host

    Molecular Microbiology

    Volume 90, Issue 3, November 2013, Pages: 597–611, Helen P. Price, Daniel Paape, Michael R. Hodgkinson, Katie Farrant, Johannes Doehl, Meg Stark and Deborah F. Smith

    Version of Record online : 17 SEP 2013, DOI: 10.1111/mmi.12383