Search Results

There are 17237 results for: content related to: Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

  1. 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

  2. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 476–481, E. Schaefer, J. Lauer, M. Durand, V. Pelletier, C. Obringer, A. Claussmann, J.-J. Braun, C. Redin, C. Mathis, J. Muller, C. Schmidt-Mutter, E. Flori, V. Marion, C. Stoetzel and H. Dollfus

    Version of Record online : 12 JUN 2013, DOI: 10.1111/cge.12198

  3. 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

  4. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Version of Record online : 9 JUL 2013, DOI: 10.1111/cge.12196

  5. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 509–517, J. Thevenon, L. Duplomb, S. Phadke, T. Eguether, A. Saunier, M. Avila, V. Carmignac, A.-L. Bruel, J. St-Onge, Y. Duffourd, G.J. Pazour, B. Franco, T. Attie-Bitach, A. Masurel-Paulet, J.-B. Rivière, V. Cormier-Daire, C. Philippe, L. Faivre and C. Thauvin-Robinet

    Version of Record online : 29 APR 2016, DOI: 10.1111/cge.12785

  6. Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 640–646, C. Peña-Padilla, C.R. Marshall, S. Walker, S.W. Scherer, G. Tavares-Macías, G. Razo-Jiménez, L. Bobadilla-Morales, E. Acosta-Fernández, A. Corona-Rivera, R. Mendoza-Londono and J. R. Corona-Rivera

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12924

  7. 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

  8. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 11–20, J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Version of Record online : 10 JUL 2014, DOI: 10.1111/cge.12436

  9. Cross-border reprogenetic services

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 1–10, V. Couture, R. Drouin, S.-L. Tan, J.-M. Moutquin and C. Bouffard

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12418

  10. GLI3-related polydactyly: a review

    Clinical Genetics

    M.M. Al-Qattan, H.E. Shamseldin, M.A. Salih and F.S. Alkuraya

    Version of Record online : 22 FEB 2017, DOI: 10.1111/cge.12952

  11. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

    Clinical Genetics

    A.M. Willis, S.K. Smith, B. Meiser, M.L. Ballinger, D.M. Thomas and M.-A. Young

    Version of Record online : 23 OCT 2016, DOI: 10.1111/cge.12868

  12. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Version of Record online : 25 AUG 2013, DOI: 10.1111/cge.12244

  13. Prenatal diagnosis of congenital myopathies and muscular dystrophies

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 199–210, D. Massalska, J.G. Zimowski, J. Bijok, A. Kucińska-Chahwan, A. Łusakowska, G. Jakiel and T. Roszkowski

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12801

  14. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 426–433, E. N. Kerr, A. Bhan and E. Héon

    Version of Record online : 16 JUN 2015, DOI: 10.1111/cge.12614

  15. You have full text access to this OnlineOpen article
    Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 275–284, S.L. Sawyer, T. Hartley, D.A. Dyment, C.L. Beaulieu, J. Schwartzentruber, A. Smith, H.M. Bedford, G. Bernard, F.P. Bernier, B. Brais, D.E. Bulman, J. Warman Chardon, D. Chitayat, J. Deladoëy, B.A. Fernandez, P. Frosk, M.T. Geraghty, B. Gerull, W. Gibson, R.M. Gow, G.E. Graham, J.S. Green, E. Heon, G. Horvath, A.M. Innes, N. Jabado, R.H. Kim, R.K. Koenekoop, A. Khan, O.J. Lehmann, R. Mendoza-Londono, J.L. Michaud, S.M. Nikkel, L.S. Penney, C. Polychronakos, J. Richer, G.A. Rouleau, M.E. Samuels, V.M. Siu, O. Suchowersky, M.A. Tarnopolsky, G. Yoon, F.R. Zahir, FORGE Canada Consortium, Care4Rare Canada Consortium, J. Majewski and K.M. Boycott

    Version of Record online : 22 SEP 2015, DOI: 10.1111/cge.12654

  16. 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

  17. Genetic testing for RAD51C mutations: in the clinic and community

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 303–312, V. Sopik, M.R. Akbari and S.A. Narod

    Version of Record online : 7 JAN 2015, DOI: 10.1111/cge.12548

  18. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 203–212, S. Malik

    Version of Record online : 18 OCT 2013, DOI: 10.1111/cge.12276

  19. You have free access to this content
    Genetics of primary ovarian insufficiency

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 183–198, R. Rossetti, I. Ferrari, M. Bonomi and L. Persani

    Version of Record online : 12 DEC 2016, DOI: 10.1111/cge.12921

  20. Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

    Clinical Genetics

    C. Tardieu, S. Jung, K. Niederreither, M. Prasad, S. Hadj-Rabia, N. Philip, A. Mallet, E. Consolino, E. Sfeir, B. Noueiri, N. Chassaing, H. Dollfus, M.C. Manière, A. Bloch-Zupan and F. Clauss

    Version of Record online : 19 MAR 2017, DOI: 10.1111/cge.12972