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There are 2768 results for: content related to: Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

  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. Genetic aspects of Huntington's disease in Latin America. A systematic review

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 295–303, R.M. Castilhos, M.C. Augustin, J.A. Santos, C. Perandones, M.L. Saraiva-Pereira, L.B. Jardim and on Behalf of Rede Neurogenética

    Version of Record online : 13 AUG 2015, DOI: 10.1111/cge.12641

  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. 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

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

    Clinical Genetics

    Volume 92, Issue 2, August 2017, Pages: 121–133, 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. (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

  15. 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

  16. 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

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    Funding considerations for the disclosure of genetic incidental findings in biobank research

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 397–406, L Black, D Avard, MH Zawati, BM Knoppers, J Hébert, G Sauvageau and on behalf of the Leucegene Project

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12190

  18. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 386–402, Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad and H. Najmabadi

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12810

  19. You have free access to this content
    Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 233–246, L. Fontana, B. Gentilin, L. Fedele, C. Gervasini and M. Miozzo

    Version of Record online : 16 NOV 2016, DOI: 10.1111/cge.12883

  20. Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

    Clinical Genetics

    Volume 92, Issue 3, September 2017, Pages: 306–317, L. Peña-Quintana, G. Scherer, M.L. Curbelo-Estévez, F. Jiménez-Acosta, B. Hartmann, F. La Roche, S. Meavilla-Olivas, C. Pérez-Cerdá, N. García-Segarra, Y. Giguère, P. Huppke, G.A. Mitchell, E. Mönch, D. Trump, C. Vianey-Saban, E.R. Trimble, I. Vitoria-Miñana, D. Reyes-Suárez, T. Ramírez-Lorenzo and A. Tugores

    Version of Record online : 18 MAY 2017, DOI: 10.1111/cge.13003