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There are 37087 results for: content related to: Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

  1. You have free access to this content
    Autism spectrum disorders: a qualitative study of attitudes toward prenatal genetic testing and termination decisions of affected pregnancies

    Clinical Genetics

    L.S. Chen, L. Xu, S.U. Dhar, M. Li, D. Talwar and E. Jung

    Article first published online : 6 NOV 2014, DOI: 10.1111/cge.12504

  2. Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 338–342, L. Guazzarotti, G. Tadini, G.E. Mancini, S. Giglio, C.E. Willoughby, M. Callea, I. Sani, P. Nannini, C. Mameli, A.A. Tenconi, S. Mauri, A. Bottero, A. Caimi, M. Morelli and G.V. Zuccotti

    Article first published online : 30 MAY 2014, DOI: 10.1111/cge.12404

  3. Germline mutations and genotype–phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 482–486, J.H. Kim, M.-W. Seong, K.E. Lee, H.J. Choi, E.J. Ku, J.H. Bae, S.S. Park, S.H. Choi, S.W. Kim, CS Shin and S.Y. Kim

    Article first published online : 15 NOV 2013, DOI: 10.1111/cge.12304

  4. You have free access to this content
    The golden era of ocular disease gene discovery: Race to the finish

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 99–101, A Swaroop and P A Sieving

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12204

  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

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

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    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  7. Gene therapy for primary immunodeficiencies

    Clinical Genetics

    A. Fischer, S. Hacein-Bey Abina, F. Touzot and M. Cavazzana

    Article first published online : 23 MAR 2015, DOI: 10.1111/cge.12576

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

    Clinical Genetics

    G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12529

  9. Cornelia de Lange syndrome

    Clinical Genetics

    M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

  10. Genotype–phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 422–431, SG Mehta, M Khare, R Ramani, GDJ Watts, M Simon, KE Osann, S Donkervoort, E Dec, A Nalbandian, J Platt, M Pasquali, A Wang, T Mozaffar, CD Smith and VE Kimonis

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12000

  11. Detecting somatic mosaicism: considerations and clinical implications

    Clinical Genetics

    A.S.A. Cohen, S.L. Wilson, J. Trinh and X.C. Ye

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12502

  12. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

    Clinical Genetics

    M. Schneider, K. Chandler, M. Tischkowitz and S. Meyer

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12517

  13. You have free access to this content
    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

    Article first published online : 10 JUL 2014, DOI: 10.1111/cge.12436

  14. 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

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

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

    Clinical Genetics

    C. Helsmoortel, G. Vandeweyer, P. Ordoukhanian, F. Van Nieuwerburgh, N. Van der Aa and R.F. Kooy

    Article first published online : 13 OCT 2014, DOI: 10.1111/cge.12470

  16. Genetics of sudden cardiac death in the young

    Clinical Genetics

    J.B. Saenen, E.M. Van Craenenbroeck, D. Proost, F. Marchau, L. Van Laer, C.J. Vrints and B.L. Loeys

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12519

  17. The kidney in Fabry's disease

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 301–309, A. Pisani, B. Visciano, M. Imbriaco, A. Di Nuzzi, A. Mancini, C. Marchetiello and E. Riccio

    Article first published online : 30 MAY 2014, DOI: 10.1111/cge.12386

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    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

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  19. You have free access to this content
    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

  20. Cutaneous clues for diagnosing X-chromosomal disorders

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 328–335, M. Vreeburg, S.C.E.H. Sallevelt, A.P.A. Stegmann, M. van Geel, Y.J.H.A. Detisch, C.T.R.M. Schrander-Stumpel, M.A.M. van Steensel and D. Marcus-Soekarman

    Article first published online : 14 AUG 2013, DOI: 10.1111/cge.12162