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There are 4802160 results for: content related to: AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders

  1. Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies

    Journal of Comparative Neurology

    Volume 511, Issue 2, 10 November 2008, Pages: 238–256, Jennifer E. Doering, Kelly Kane, Yi-Chun Hsiao, Cong Yao, Bingxing Shi, Amber D. Slowik, Bakul Dhagat, Delisha D. Scott, Jeffrey G. Ault, Patrick S. Page-McCaw and Russell J. Ferland

    Version of Record online : 11 SEP 2008, DOI: 10.1002/cne.21824

  2. 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

  3. Molecular characterization of Joubert syndrome in Saudi Arabia

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1423–1428, Anas M. Alazami, Muneera J. Alshammari, Mustafa A. Salih, Fatema Alzahrani, Hadia Hijazi, Mohammed Z. Seidahmed, Leen Abu Safieh, Mazhor Aldosary, Arif O. Khan and Fowzan S. Alkuraya

    Version of Record online : 11 JUL 2012, DOI: 10.1002/humu.22134

  4. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

    Clinical Genetics

    Volume 74, Issue 2, August 2008, Pages: 164–170, F Brancati, L Travaglini, D Zablocka, E Boltshauser, P Accorsi, G Montagna, JL Silhavy, G Barrano, E Bertini, F Emma, L Rigoli, The International JSRD Study Group, B Dallapiccola, JG Gleeson and EM Valente

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.2008.01047.x

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    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

  6. 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

  7. Distinguishing the four genetic causes of jouberts syndrome–related disorders

    Annals of Neurology

    Volume 57, Issue 4, April 2005, Pages: 513–519, Enza Maria Valente, Sarah E. Marsh, Marco Castori, Tracy Dixon-Salazar, Enrico Bertini, Lihadh Al-Gazali, Jean Messer, Clara Barbot, C. Geoffrey Woods, Eugen Boltshauser, Asma A. Al-Tawari, Carmelo D. Salpietro, Hulya Kayserili, László Sztriha, Moez Gribaa, Michel Koenig, Bruno Dallapiccola and Joseph G. Gleeson

    Version of Record online : 22 MAR 2005, DOI: 10.1002/ana.20422

  8. Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 2, 1 June 2005, Pages: 134–141, László Sztriha and Johan G. Johansen

    Version of Record online : 14 APR 2005, DOI: 10.1002/ajmg.a.30701

  9. 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

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12129

  10. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction–based assays to simplify genotyping

    American Journal of Medical Genetics

    Volume 94, Issue 3, 18 September 2000, Pages: 214–227, Patrycja A. Krakowiak, Ngozi A. Nwokoro, Christopher A. Wassif, Kevin P. Battaile, Małgorzata J.M. Nowaczyk, William E. Connor, Cheryl Maslen, Robert D. Steiner and Forbes D. Porter

    Version of Record online : 14 SEP 2000, DOI: 10.1002/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R

  11. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 7, 1 April 2007, Pages: 694–698, Akira Nishimura, Haruya Sakai, Shiro Ikegawa, Hiroshi Kitoh, Nobuyuki Haga, Satoshi Ishikiriyama, Toshiro Nagai, Fumio Takada, Takako Ohata, Fumihiko Tanaka, Hotaka Kamasaki, Hirotomo Saitsu, Takeshi Mizuguchi and Naomichi Matsumoto

    Version of Record online : 7 MAR 2007, DOI: 10.1002/ajmg.a.31639

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    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: E1709–E1766, Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy and Elfride De Baere

    Version of Record online : 3 AUG 2010, DOI: 10.1002/humu.21336

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    The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

    Developmental Medicine & Child Neurology

    Volume 53, Issue 9, September 2011, Pages: 793–798, SHIFTEH SATTAR and JOSEPH G GLEESON

    Version of Record online : 17 JUN 2011, DOI: 10.1111/j.1469-8749.2011.04021.x

  14. Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2501–2511, Chayim Can Schell-Apacik, Kristina Wagner, Moritz Bihler, Birgit Ertl-Wagner, Uwe Heinrich, Eva Klopocki, Vera M. Kalscheuer, Maximilian Muenke and Hubertus von Voss

    Version of Record online : 15 SEP 2008, DOI: 10.1002/ajmg.a.32476

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    Host range of Frankia strains isolated from actinorhizal plants growing in Japan and their relatedness based on 16S rDNA

    Soil Science & Plant Nutrition

    Volume 54, Issue 3, June 2008, Pages: 379–386, Yuki NAGASHIMA, Chiharu TANI, Mikihiro YAMAMOTO and Hideo SASAKAWA

    Version of Record online : 4 MAY 2008, DOI: 10.1111/j.1747-0765.2008.00251.x

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    The role of AHI1 and CDKN1C in cutaneous T-cell lymphoma progression

    Experimental Dermatology

    Volume 21, Issue 12, December 2012, Pages: 964–966, Ivan V. Litvinov, Thomas S. Kupper and Denis Sasseville

    Version of Record online : 22 NOV 2012, DOI: 10.1111/exd.12039

  17. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1485–1493, Sofie Symoens, Delfien Syx, Fransiska Malfait, Bert Callewaert, Julie De Backer, Olivier Vanakker, Paul Coucke and Anne De Paepe

    Version of Record online : 5 JUL 2012, DOI: 10.1002/humu.22137

  18. Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2601–2606, O. Khalifa, F. Imtiaz, K. Ramzan, R. Allam, A. Al- Hemidan, E. Faqeih, G. Abuharb, A. Balobaid, N. Sakati and M. Al- Owain

    Version of Record online : 29 JUL 2014, DOI: 10.1002/ajmg.a.36681

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    Microsatellite instability and mutation analysis of candidate genes in unselected sardinian patients with endometrial carcinoma

    Cancer

    Volume 94, Issue 12, 15 June 2002, Pages: 3157–3168, Paola Baldinu, Antonio Cossu, Antonella Manca, Maria P. Satta, Marina Pisano, Milena Casula, Salvatore Dessole, Adriana Pintus, Francesco Tanda and Giuseppe Palmieri

    Version of Record online : 12 JUN 2002, DOI: 10.1002/cncr.10606

  20. A Comparison Among Assemblages in Areas Invaded by Caulerpa taxifolia and C. racemosa on a Subtidal Mediterranean Rocky Bottom

    Marine Ecology

    Volume 25, Issue 1, May 2004, Pages: 1–13, David Balata, Luigi Piazzi and Francesco Cinelli

    Version of Record online : 4 MAY 2004, DOI: 10.1111/j.1439-0485.2004.00013.x