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There are 17371 results for: content related to: Molecular characterization and clinical presentation of HK αα and anti- HK αα alleles in southern Chinese subjects

  1. 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

  2. Epigenetic changes in diabetes

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 1–10, ST Keating and A El-Osta

    Article first published online : 11 MAR 2013, DOI: 10.1111/cge.12121

  3. 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

  4. 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

  5. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  6. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056

  7. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  8. Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 96–98, J.M. Laffita-Mesa, L.E. Almaguer-Mederos, V. Kourí, P.O. Bauer, Y. Vázquez-Mojena, T. Cruz Mariño and L. Velázquez-Pérez

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12221

  9. 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

  10. 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

  11. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 138–146, M.J.M. Nowaczyk, B.A. Thompson, S. Zeesman, U. Moog, P.A. Sanchez-Lara, P.L. Magoulas, R.E. Falk, J.E. Hoover-Fong, D.A.S. Batista, S.M. Amudhavalli, S.M. White, G.E. Graham and K.A. Rauen

    Article first published online : 2 APR 2013, DOI: 10.1111/cge.12116

  12. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 260–266, P. Mur, M. Pineda, A. Romero, J. del Valle, E. Borràs, A. Canal, M. Navarro, J. Brunet, D. Rueda, T. Ramón y Cajal, C. Lázaro, T. Caldés, I. Blanco, J.L. Soto and G. Capellá

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12152

  13. 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

  14. 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

  15. 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

  16. Genetic heterogeneity in Pakistani microcephaly families

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 446–451, M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, M Reza Toliat, H Eiberg, KW Kjaer, N Tommerup, AA Noegel, P Nürnberg, SM Baig and L Hansen

    Article first published online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01932.x

  17. You have free access to this content
    Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 78–86, MC van Rij, PAM de Koning Gans, CM Aalfs, M Elting, PF Ippel, JA Maat-Kievit, S Vermeer, CC Verschuuren-Bemelmans, MJ van Belzen, RDM Belfroid, M Losekoot, JPM Geraedts, RAC Roos, A Tibben, CEM de Die-Smulders and EK Bijlsma

    Article first published online : 27 MAR 2013, DOI: 10.1111/cge.12090

  18. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Clinical Genetics

    S Sheikhzadeh, C Sondermann, M Rybczynski, CR Habermann, L Brockstaedt, B Keyser, H Kaemmerer, T Mir, A Staebler, PN Robinson, K Kutsche, J Berger, S Blankenberg and Y von Kodolitsch

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12264

  19. 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

  20. 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