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There are 18421 results for: content related to: Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

  1. Clinical and molecular features of Joubert syndrome and related disorders

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

    Volume 151C, Issue 4, 15 November 2009, Pages: 326–340, Melissa A. Parisi

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30229

  2. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

    Human Mutation

    Volume 30, Issue 11, November 2009, Pages: 1574–1582, Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit, Marie Gonzales, Estelle Escudier, Bruno Leheup, Philippe Loget, Sylvie Odent, Joëlle Roume, Marion Gérard, Anne-Lise Delezoide, Suonavy Khung, Sophie Patrier, Marie-Pierre Cordier, Raymonde Bouvier, Jéléna Martinovic, Marie-Claire Gubler, Nathalie Boddaert, Arnold Munnich, Férechté Encha-Razavi, Enza Maria Valente, Ali Saad, Sophie Saunier, Michel Vekemans and Tania Attié-Bitach

    Version of Record online : 2 SEP 2009, DOI: 10.1002/humu.21116

  3. You have free access to this content
    Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1715–1725, Kym M. Boycott, Jillian S. Parboosingh, James N. Scott, D. Ross McLeod, Cheryl R. Greenberg, T. Mary Fujiwara, Jean K. Mah, Julian Midgley, Andrew Wade, Francois P. Bernier, Bernard N. Chodirker, Martin Bunge and A. Micheil Innes

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31832

  4. 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

  5. You have free access to this content
    CEP290, a gene with many faces: mutation overview and presentation of CEP290base

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: 1097–1108, Frauke Coppieters, Steve Lefever, Bart P. Leroy and Elfride De Baere

    Version of Record online : 5 AUG 2010, DOI: 10.1002/humu.21337

  6. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects

    American Journal of Medical Genetics

    Volume 26, Issue 2, February 1987, Pages: 321–336, Dr. Anthony C. Casamassima, Peter Mamunes, Igor M. Gladstone Jr., Stuart Solomon, Charles Moncure, John M. Opitz and James F. Reynolds

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320260211

  7. You have full text access to this OnlineOpen article
    Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies

    FEBS Letters

    Volume 586, Issue 18, August 31, 2012, Pages: 2846–2857, Sarah E. Conduit, Jennifer M. Dyson and Christina A. Mitchell

    Version of Record online : 22 JUL 2012, DOI: 10.1016/j.febslet.2012.07.037

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    Craniofacial ciliopathies: A new classification for craniofacial disorders

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 2995–3006, Samantha A. Brugmann, Dwight R. Cordero and Jill A. Helms

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33727

  9. 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

  10. 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

    Version of Record online : 14 JUL 2015, DOI: 10.1002/wdev.199

  11. Meckel Syndrome and Related Disorders

    Standard Article

    eLS

    Valeska Frank and Carsten Bergmann

    Published Online : 15 NOV 2013, DOI: 10.1002/9780470015902.a0024286

  12. You have free access to this content
    Meckel–Grüber syndrome: sonography and pathology

    Ultrasound in Obstetrics & Gynecology

    Volume 27, Issue 3, March 2006, Pages: 296–300, V. Ickowicz, D. Eurin, B. Maugey-Laulom, F. Didier, C. Garel, M. C. Gubler, A. Laquerrière and E. F. Avni

    Version of Record online : 31 JAN 2006, DOI: 10.1002/uog.2708

  13. Expanding CEP290 mutational spectrum in ciliopathies

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2173–2180, Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet, Dominika Swistun, Jerlyn Tolentino, The International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson and Enza Maria Valente

    Version of Record online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33025

  14. Are the oral-facial-digital syndromes ciliopathies?

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 1089–1095, Helga V. Toriello

    Version of Record online : 24 APR 2009, DOI: 10.1002/ajmg.a.32799

  15. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1411–1419, A.M. Lehman, P. Eydoux, D. Doherty, I.A. Glass, D. Chitayat, B.Y.H. Chung, S. Langlois, S.L. Yong, R.B. Lowry, F. Hildebrandt and P. Trnka

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33416

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    Meckel on developmental pathology

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 2, 15 January 2006, Pages: 115–128, John M. Opitz, Rüdiger Schultka and Luminita Göbbel

    Version of Record online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31043

  17. 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

    Version of Record online : 28 OCT 2009, DOI: 10.1002/ajmg.c.30231

  18. Molecular genetic analysis of 30 families with Joubert syndrome

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 526–535, T. Suzuki, N. Miyake, Y. Tsurusaki, N. Okamoto, A. Alkindy, A. Inaba, M. Sato, S. Ito, K. Muramatsu, S. Kimura, D. Ieda, S. Saitoh, M. Hiyane, H. Suzumura, K. Yagyu, H. Shiraishi, M. Nakajima, N. Fueki, Y. Habata, Y. Ueda, Y. Komatsu, K. Yan, K. Shimoda, Y. Shitara, S. Mizuno, K. Ichinomiya, K. Sameshima, Y. Tsuyusaki, K. Kurosawa, Y. Sakai, K. Haginoya, Y. Kobayashi, C. Yoshizawa, M. Hisano, M. Nakashima, H. Saitsu, S. Takeda and N. Matsumoto

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12836

  19. Meckel's diverticulum: A review

    Clinical Anatomy

    Volume 24, Issue 4, May 2011, Pages: 416–422, Kiranjit Uppal, R. Shane Tubbs, Petru Matusz, Kitt Shaffer and Marios Loukas

    Version of Record online : 14 FEB 2011, DOI: 10.1002/ca.21094

  20. Distribution of myofibroblastic cells in the liver and kidney of Meckel–Gruber syndrome

    Pathology International

    Volume 54, Issue 1, January 2004, Pages: 57–62, Naoto Kuroda, Yoshihito Ishiura, Masaaki Kawashima, Eriko Miyazaki, Yoshihiro Hayashi and Hideaki Enzan

    Version of Record online : 19 DEC 2003, DOI: 10.1111/j.1440-1827.2004.01586.x