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There are 1382 results for: content related to: Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

  1. Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient–family member dyads

    Clinical Genetics

    D.W. Shin, J. Cho, D.L. Roter, S.Y. Kim, Ji.H. Park, B. Cho, H.-S. Eom, J.-S. Chung, H.-K. Yang and Jo.-H. Park

    Article first published online : 28 FEB 2014, DOI: 10.1111/cge.12343

  2. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

    Clinical Genetics

    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

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12391

  3. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    I Filges, E Nosova, E Bruder, S Tercanli, K Townsend, WT Gibson, B Röthlisberger, K Heinimann, JG Hall, CY Gregory-Evans, WW Wasserman, P Miny and JM Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301

  4. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

    Clinical Genetics

    G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L. G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza and C. Gervasini

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12348

  5. Communication and technology in genetic counseling for familial cancer

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 213–222, H.T. Lynch, C. Snyder, M. Stacey, B. Olson, S.K. Peterson, S. Buxbaum, T. Shaw and P.M. Lynch

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12317

  6. Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

    Clinical Genetics

    S. Sheikhzadeh, L. Brockstaedt, C.R. Habermann, C. Sondermann, P. Bannas, T.S. Mir, A. Staebler, H. Seidel, B. Keyser, M. Arslan-Kirchner, K. Kutsche, J. Berger, S. Blankenberg and Y. von Kodolitsch

    Article first published online : 17 DEC 2013, DOI: 10.1111/cge.12308

  7. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

    Clinical Genetics

    J.M. Eggington, K.R. Bowles, K. Moyes, S. Manley, L. Esterling, S. Sizemore, E. Rosenthal, A. Theisen, J. Saam, C. Arnell, D. Pruss, J. Bennett, L.A. Burbidge, B. Roa and R.J. Wenstrup

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12315

  8. You have free access to this content
    Biobanks and personalized medicine

    Clinical Genetics

    J.E. Olson, S.J. Bielinski, E. Ryu, E.M. Winkler, P.Y. Takahashi, J. Pathak and J.R. Cerhan

    Article first published online : 27 MAR 2014, DOI: 10.1111/cge.12370

  9. Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

    Clinical Genetics

    D. Z. Loesch, M. Q. Bui, E. Hammersley, A. Schneider, E. Storey, P. Stimpson, T. Burgess, D. Francis, H. Slater, F. Tassone, R. J. Hagerman and D. Hessl

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12347

  10. Informed consent for human genetic and genomic studies: a systematic review

    Clinical Genetics

    A. Khan, B.J. Capps, M.Y. Sum, C.N. Kuswanto and K. Sim

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12384

  11. You have full text access to this OnlineOpen article
    Strabismus genetics across a spectrum of eye misalignment disorders

    Clinical Genetics

    X.C. Ye, V. Pegado, M.S. Patel and W.W. Wasserman

    Article first published online : 26 MAR 2014, DOI: 10.1111/cge.12367

  12. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

    Clinical Genetics

    J. Piard, B. Aral, P. Vabres, M. Holder-Espinasse, A. Mégarbané, S. Gauthier, V. Capra, G. Pierquin, P. Callier, C. Baumann, L. Pasquier, G. Baujat, L. Martorell, A. Rodriguez, A. F. Brady, F. Boralevi, M. A. González-Enseñat, M. Rio, C. Bodemer, N. Philip, M.-P. Cordier, A. Goldenberg, B. Demeer, M. Wright, E. Blair, E. Puzenat, P. Parent, Y. Sznajer, C. Francannet, N. DiDonato, O. Boute, V. Barlogis, O. Moldovan, D. Bessis, C. Coubes, M. Tardieu, V. Cormier-Daire, A. B. Sousa, J. Franques, A. Toutain, M. Tajir, S. C. Elalaoui, D. Geneviève, J. Thevenon, J.-B. Courcet, J.-B. Rivière, C. Collet, N. Gigot, L. Faivre and C. Thauvin-Robinet

    Article first published online : 26 MAR 2014, DOI: 10.1111/cge.12361

  13. SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED)

    Clinical Genetics

    O. Mäkitie, S. Geiberger, E. Horemuzova, L. Hagenäs, E. Moström, M. Nordenskjöld, G. Grigelioniene and A. Nordgren

    Article first published online : 1 APR 2014, DOI: 10.1111/cge.12371

  14. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

    Clinical Genetics

    M.D. Bashyam, A.K. Chaudhary, M. Kiran, V. Reddy, H.A. Nagarajaram, A. Dalal, L. Bashyam, D. Suri, A. Gupta, N. Gupta, M. Kabra, R.D. Puri, R. RamaDevi, S. Kapoor and S. Danda

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12316

  15. Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact

    Clinical Genetics

    J.E. Baars, E.M.A. Bleiker, E. van Riel, C.C. Rodenhuis, M.E. Velthuizen, K.J. Schlich and M.G.E.M. Ausems

    Article first published online : 4 FEB 2014, DOI: 10.1111/cge.12335

  16. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

    Clinical Genetics

    S. Banka, D. Lederer, V. Benoit, E. Jenkins, E. Howard, S. Bunstone, B. Kerr, S. McKee, I.C. Lloyd, D. Shears, H. Stewart, S.M. White, R. Savarirayan, G.M.S. Mancini, D. Beysen, R.D. Cohn, B. Grisart, I. Maystadt and D. Donnai

    Article first published online : 27 MAR 2014, DOI: 10.1111/cge.12363

  17. Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

    Clinical Genetics

    J.M. van de Kamp, A. Errami, M. Howidi, I. Anselm, S. Winter, J. Phalin-Roque, H. Osaka, S.J.M. van Dooren, G.M. Mancini, S.J. Steinberg and G.S. Salomons

    Article first published online : 6 MAR 2014, DOI: 10.1111/cge.12355

  18. You have full text access to this OnlineOpen article
    Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

    Clinical Genetics

    D. Cragun, C. Radford, J.S. Dolinsky, M. Caldwell, E. Chao and T. Pal

    Article first published online : 20 MAR 2014, DOI: 10.1111/cge.12359

  19. Myhre syndrome

    Clinical Genetics

    C. Le Goff, C. Michot and V. Cormier-Daire

    Article first published online : 2 APR 2014, DOI: 10.1111/cge.12365

  20. A ‘cure’ for Down syndrome: what do parents want?

    Clinical Genetics

    A. Inglis, Z. Lohn, J. C. Austin and C. Hippman

    Article first published online : 21 MAR 2014, DOI: 10.1111/cge.12364