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There are 3207 results for: content related to: Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate

  1. Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

    Clinical Genetics

    C. Paludan-Müller, G. Ahlberg, J. Ghouse, C. Herfelt, J.H. Svendsen, S. Haunsø, J.K. Kanters and M.S. Olesen

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12847

  2. You have free access to this content
    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Version of Record online : 15 APR 2013, DOI: 10.1111/cge.12151

  3. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 431–440, S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza and C. Gervasini

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12537

  4. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 252–257, C. Fallerini, L. Dosa, R. Tita, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi, A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, G.M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E. Frate, A.R. Pinciaroli, M. Giani, P. Castorina, E. Bresin, D. Giachino, M. De Marchi, F. Mari, M. Bruttini, A. Renieri and F. Ariani

    Version of Record online : 17 OCT 2013, DOI: 10.1111/cge.12258

  5. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  6. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  7. Hermansky–Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 96–98, A. O. Khan, M. Tamimi, S. Lenzner and H. J. Bolz

    Version of Record online : 20 JAN 2016, DOI: 10.1111/cge.12715

  8. Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 259–265, H. Morales-Briceño, O.F. Chacón-Camacho, E.A. Pérez-González, J. Arteaga-Vázquez, M. Rodríguez-Violante, A. Cervantes-Arriaga, L. Pérez-Rodríguez, J.C. Zenteno and O.M. Mutchinick

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12400

  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. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 362–367, M. Longoni, M.K. Russell, F.A. High, K. Darvishi, F.I. Maalouf, A. Kashani, A.A. Tracy, C.M. Coletti, M. Loscertales, K. Lage, K.G. Ackerman, S.A. Woods, C. Ward-Melver, D. Andrews, C. Lee, B.R. Pober and P.K. Donahoe

    Version of Record online : 26 APR 2014, DOI: 10.1111/cge.12395

  11. You have full text access to this OnlineOpen article
    Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 187–192, A. Haghighi, M. Borhany, A. Ghazi, N. Edwards, A. Tabaksert, A. Haghighi, N. Fatima, T.S. Shamsi and J.A. Sayer

    Version of Record online : 15 JUL 2015, DOI: 10.1111/cge.12622

  12. Expanding the genotypic spectrum of Perrault syndrome

    Clinical Genetics

    L.A.M. Demain, J.E. Urquhart, J. O'Sullivan, S.G. Williams, S.S. Bhaskar, E.M. Jenkinson, C.M. Lourenco, A. Heiberg, S.H. Pearce, S.A. Shalev, W.W. Yue, S. Mackinnon, K.J. Munro, R. Newbury-Ecob, K. Becker, M.J. Kim, R.T. O' Keefe and W.G. Newman

    Version of Record online : 1 APR 2016, DOI: 10.1111/cge.12776

  13. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 34–40, D.A. Dyment, M. Tétreault, C.L. Beaulieu, T. Hartley, P. Ferreira, J.W. Chardon, J. Marcadier, S.L. Sawyer, S.J. Mosca, A.M. Innes, J.S. Parboosingh, D.E. Bulman, J. Schwartzentruber, J. Majewski, M. Tarnopolsky, K.M. Boycott, FORGE Canada Consortium and Care4Rare Canada

    Version of Record online : 28 AUG 2014, DOI: 10.1111/cge.12464

  14. Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes

    Clinical Genetics

    K. Balamurugan, L. Bjørkhaug, S. Mahajan, S. Kanthimathi, P.R. Njølstad, N. Srinivasan, V. Mohan and V. Radha

    Version of Record online : 4 MAR 2016, DOI: 10.1111/cge.12757

  15. Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

    Clinical Genetics

    Volume 88, Issue 2, August 2015, Pages: 140–148, C. Helsmoortel, G. Vandeweyer, P. Ordoukhanian, F. Van Nieuwerburgh, N. Van der Aa and R.F. Kooy

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12470

  16. You have full text access to this OnlineOpen article
    Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 167–174, J L Wiggs, G R Howell, K Linkroum, W Abdrabou, E Hodges, C E Braine, L R Pasquale, G J Hannon, J L Haines and S W M John

    Version of Record online : 27 MAY 2013, DOI: 10.1111/cge.12176

  17. Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 247–251, A. Bayat, S. Yasmeen, A. Lund, J.B. Nielsen and L.B. Møller

    Version of Record online : 12 DEC 2015, DOI: 10.1111/cge.12692

  18. High prevalence of BRCA1 founder mutations in Greek breast/ovarian families

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 36–42, I Konstantopoulou, M Tsitlaidou, F Fostira, M Pertesi, A-V Stavropoulou, O Triantafyllidou, E Tsotra, AP Tsiftsoglou, C Tsionou, S Droufakou, C Dimitrakakis, G Fountzilas and D Yannoukakos

    Version of Record online : 20 OCT 2013, DOI: 10.1111/cge.12274

  19. NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 608–613, N. Bouali, B. Francou, J. Bouligand, B. Lakhal, I. Malek, M. Kammoun, J. Warszawski, S. Mougou, A. Saad and A. Guiochon-Mantel

    Version of Record online : 4 MAR 2016, DOI: 10.1111/cge.12750

  20. You have free access to this content
    Gastrointestinal involvement in Fabry disease. So important, yet often neglected

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 5–9, J. Politei, B.L. Thurberg, E. Wallace, D. Warnock, G. Serebrinsky, C. Durand and A.B. Schenone

    Version of Record online : 29 SEP 2015, DOI: 10.1111/cge.12673