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There are 39997 results for: content related to: Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

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

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 112–120, 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. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    A.M. Slavotinek, S.T. Garcia, G. Chandratillake, T. Bardakjian, E. Ullah, D. Wu, K. Umeda, R. Lao, P.L.-F. Tang, E. Wan, L. Madireddy, S. Lyalina, B.A. Mendelsohn, S. Dugan, J. Tirch, R. Tischler, J. Harris, M.J. Clark, S. Chervitz, A. Patwardhan, J.M. West, P. Ursell, A. de Alba Campomanes, A. Schneider, P.-y. Kwok, S. Baranzini and R.O. Chen

    Article first published online : 6 JAN 2015, DOI: 10.1111/cge.12543

  3. Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations

    Clinical Genetics

    L.-H. Yu, D. Liu, R. Cai, X. Shang, X.-H. Zhang, X.-X. Ma, S.-H. Yan, P. Fang, C.-G. Zheng, X.-F. Wei, Y.-H. Liu, T.-B. Zhou and X.-M. Xu

    Article first published online : 26 JUL 2014, DOI: 10.1111/cge.12443

  4. Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 167–171, R. Pérez-Carro, R. Sánchez-Alcudia, B. Pérez, R. Navarrete, C. Pérez-Cerdá, M. Ugarte and L.R. Desviat

    Article first published online : 21 AUG 2013, DOI: 10.1111/cge.12243

  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

  6. You have free access to this content
    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. A 66-bp deletion in growth hormone releasing hormone gene 5′-flanking region with largemouth bass recessive embryonic lethal

    Animal Genetics

    Volume 45, Issue 3, June 2014, Pages: 421–426, D. M. Ma, L. Q. Han, J. J. Bai, S. J. Li, J. J. Fan, L. Y. Yu and Y. C. Quan

    Article first published online : 3 APR 2014, DOI: 10.1111/age.12143

  8. 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

  9. You have full text access to this OnlineOpen article
    The emerging era of pharmacogenomics: current successes, future potential, and challenges

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 21–28, J.W. Lee, F. Aminkeng, A.P. Bhavsar, K. Shaw, B.C. Carleton, M.R. Hayden and C.J.D. Ross

    Article first published online : 9 MAY 2014, DOI: 10.1111/cge.12392

  10. You have free access to this content
    Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 341–350, Y Indo

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01943.x

  11. 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

  12. Prevalence and risk of migraine headaches in adult fragile X premutation carriers

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 546–551, J Au, RS Akins, L Berkowitz-Sutherland, H-T Tang, Y Chen, A Boyd, F Tassone, DV Nguyen and R Hagerman

    Article first published online : 21 FEB 2013, DOI: 10.1111/cge.12109

  13. 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

  14. 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

  15. You have free access to this content
    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

  16. 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

  17. The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Article first published online : 5 NOV 2013, DOI: 10.1111/cge.12298

  18. You have free access to this content
    Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Article first published online : 6 AUG 2013, DOI: 10.1111/cge.12229

  19. 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

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  20. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269