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There are 4205 results for: content related to: A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

  1. 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

  2. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 576–588, S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, A.-L. Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, A.-M. Guerrot, P. Chambon, V. Satre, C. Coutton, P.-S. Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen, M.-L. Moutard, M.-C. Addor, S. Lebon, D. Martinet, J.-L. Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, A.-C. Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes and L. Faivre

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12898

  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. You have free access to this content
    Genetic abnormalities leading to qualitative defects of sperm morphology or function

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 217–232, P.F. Ray, A. Toure, C. Metzler-Guillemain, M.J. Mitchell, C. Arnoult and C. Coutton

    Version of Record online : 9 DEC 2016, DOI: 10.1111/cge.12905

  5. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  6. Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

    Clinical Genetics

    Q. Lim, B.C. McGill, V.F. Quinn, K.M. Tucker, D. Mizrahi, A.F. Patenaude, M. Warby, R.J. Cohn and C.E. Wakefield

    Version of Record online : 30 MAR 2017, DOI: 10.1111/cge.12989

  7. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12138

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    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

  9. 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

  10. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Version of Record online : 26 APR 2013, DOI: 10.1111/cge.12081

  11. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 725–738, B. Pode-Shakked, H. Barash, L. Ziv, K.W. Gripp, E. Flex, O. Barel, K.S. Carvalho, M. Scavina, G. Chillemi, M. Niceta, E. Eyal, N. Kol, B. Ben-Zeev, O. Bar-Yosef, D. Marek-Yagel, E. Bertini, A.L. Duker, Y. Anikster, M. Tartaglia and A. Raas-Rothschild

    Version of Record online : 16 DEC 2016, DOI: 10.1111/cge.12914

  12. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

    Clinical Genetics

    Volume 92, Issue 3, September 2017, Pages: 281–289, T.B. Balci, T. Hartley, Y. Xi, D.A. Dyment, C.L. Beaulieu, F.P. Bernier, L. Dupuis, G.A. Horvath, R. Mendoza-Londono, C. Prasad, J. Richer, X.-R. Yang, C.M. Armour, E. Bareke, B.A. Fernandez, H.J. McMillan, R.E. Lamont, J. Majewski, J.S. Parboosingh, A.N. Prasad, C.A. Rupar, J. Schwartzentruber, A.C. Smith, M. Tétreault, FORGE Canada Consortium, Care4Rare Canada Consortium, A.M. Innes and K.M. Boycott

    Version of Record online : 13 MAR 2017, DOI: 10.1111/cge.12987

  13. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 550–555, A. Putoux, A. Alqahtani, L. Pinson, A.D.C. Paulussen, J. Michel, A. Besson, S. Mazoyer, I. Borg, S. Nampoothiri, A. Vasiljevic, A. Uwineza, D. Boggio, F. Champion, C.E. de Die-Smulders, T. Gardeitchik, W.K. van Putten, M.J. Perez, Y. Musizzano, F. Razavi, S. Drunat, A. Verloes, R. Hennekam, L. Guibaud, E. Alix, D. Sanlaville, G. Lesca and P. Edery

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12781

  14. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 661–671, G.C. Dworschak, C. Crétolle, A. Hilger, H. Engels, E. Korsch, H. Reutter and M. Ludwig

    Version of Record online : 10 OCT 2016, DOI: 10.1111/cge.12848

  15. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 416–425, J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12631

  16. 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

  17. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 30 JUL 2015, DOI: 10.1111/cge.12635

  18. Gene therapy for primary immunodeficiencies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 507–515, A. Fischer, S. Hacein-Bey Abina, F. Touzot and M. Cavazzana

    Version of Record online : 23 MAR 2015, DOI: 10.1111/cge.12576

  19. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 441–449, R.J. Pengelly, R. Upstill-Goddard, L. Arias, J. Martinez, J. Gibson, M. Knut, A.L. Collins, S. Ennis, A. Collins and I. Briceno

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12547

  20. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12529