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There are 37015 results for: content related to: Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

  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. 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

  3. 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

  4. 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

  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. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

    Clinical Genetics

    C Fallerini, L Dosa, R Tita, D Del Prete, S Feriozzi, G Gai, M Clementi, A La Manna, N Miglietti, R Mancini, G Mandrile, GM Ghiggeri, G Piaggio, F Brancati, L Diano, E Frate, AR Pinciaroli, M Giani, P Castorina, E Bresin, D Giachino, M De Marchi, F Mari, M Bruttini, A Renieri and F Ariani

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12258

  16. 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

  17. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 555–561, F.V. Ventura, P. Leandro, A. Luz, I.A. Rivera, M.F.B. Silva, R. Ramos, H. Rocha, A. Lopes, H. Fonseca, A. Gaspar, L. Diogo, E. Martins, E. Leão-Teles, L. Vilarinho and I. Tavares de Almeida

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12227

  18. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

    Clinical Genetics

    M. Longoni, M.K. Russell, F.A. High, K. Darvishi, F.I. Maalouf, A. Kashani, A.A. Tracy, C.M. Coletti, M. Loscertales, K. Lage, K.G. Ackerman, S.A. Woods, C. Ward-Melver, D. Andrews, C. Lee, B.R. Pober and P.K. Donahoe

    Article first published online : 26 APR 2014, DOI: 10.1111/cge.12395

  19. 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

  20. 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