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There are 15940 results for: content related to: Association of HLA locus variant in Parkinson's disease

  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. 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

  3. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

    Clinical Genetics

    A. Chaudhry, A. Noor, B. Degagne, K. Baker, L. A. Bok, A. F. Brady, D. Chitayat, B. H. Chung, C. Cytrynbaum, D. Dyment, I. Filges, B. Helm, H. T. Hutchison, L. J. B. Jeng, F. Laumonnier, C. R. Marshall, M. Menzel, S. Parkash, M. J. Parker, The DDD Study, L. F. Raymond, A. L. Rideout, W. Roberts, R. Rupps, I. Schanze, C. T. R. M. Schrander-Stumpel, M. D. Speevak, D. J. Stavropoulos, S. J. C. Stevens, E. R. A. Thomas, A. Toutain, S. Vergano, R. Weksberg, S. W. Scherer, J. B. Vincent and M. T. Carter

    Article first published online : 13 OCT 2014, DOI: 10.1111/cge.12482

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

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 244–251, 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. 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

  6. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families

    Clinical Genetics

    M.J. Nabais Sá, S. Sampaio, A. Oliveira, S. Alves, C.P. Moura, S.E. Silva, R. Castro, J.A. Araújo, M. Rodrigues, F. Neves, J. Seabra, C. Soares, M.A. Gaspar, I. Tavares, L. Freitas, T.C. Sousa, A.C. Henriques, F.T. Costa, E. Morgado, F.T. Sousa, J.P. Sousa, A.G. da Costa, R. Filipe, J. Garrido, J. Montalban, P. Ponce, R. Alves, B. Faria, M.F. Carvalho, M. Pestana, F. Carvalho and J.P. Oliveira

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12522

  7. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 326–334, N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye, J.-L. Alessandri, O. Boespflug-Tanguy, O. Boute-Benejean, H. Dollfus, B. Duban-Bedu, B. Gilbert-Dussardier, F. Giuliano, M. Gonzales, M. Holder-Espinasse, B. Isidor, M.-L. Jacquemont, D. Lacombe, D. Martin-Coignard, M. Mathieu-Dramard, S. Odent, O. Picone, L. Pinson, C. Quelin, S. Sigaudy, A. Toutain, C. Thauvin-Robinet, Josseline Kaplan and Patrick Calvas

    Article first published online : 7 OCT 2013, DOI: 10.1111/cge.12275

  8. Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 536–542, E. Castellsagué, J. Liu, A. Volenik, S. Giroux, R. Gagné, B. Maranda, A. Roussel-Jobin, J. Latreille, R. Laframboise, L. Palma, L. Kasprzak, V.A. Marcus, M. Breguet, S. Nolet, Z. El-Haffaf, K. Australie, A. Gologan, O. Aleynikova, K. Oros-Klein, C. Greenwood, A.M. Mes-Masson, D. Provencher, M. Tischkowitz, G. Chong, F. Rousseau and W.D. Foulkes

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12526

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

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 252–257, C. Fallerini, L. Dosa, R. Tita, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi, A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, G.M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E. Frate, A.R. 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

  10. 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

  11. X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12613

  12. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Article first published online : 17 FEB 2015, DOI: 10.1111/cge.12550

  13. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

    Clinical Genetics

    M.J. Nabais Sá, H. Storey, F. Flinter, M. Nagel, S. Sampaio, R. Castro, J.A. Araújo, M.A. Gaspar, C. Soares, A. Oliveira, A.C. Henriques, A.G. da Costa, C.P. Abreu, P. Ponce, R. Alves, L. Pinho, S.E. Silva, C.P. de Moura, L. Mendonça, F. Carvalho, M. Pestana, S. Alves, F. Carvalho and J.P. Oliveira

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12521

  14. 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

  15. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 562–567, S. Shaaban, F. Duzcan, C. Yildirim, W.-M. Chan, C. Andrews, N.A. Akarsu and E.C. Engle

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12224

  16. Familial clustering and genetic heterogeneity in Meniere's disease

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 245–252, T. Requena, J.M. Espinosa-Sanchez, S. Cabrera, G. Trinidad, A. Soto-Varela, S. Santos-Perez, R. Teggi, P. Perez, A. Batuecas-Caletrio, J. Fraile, I. Aran, E. Martin, J. Benitez, N. Pérez-Fernández and J.A. Lopez-Escamez

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12150

  17. 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

  18. Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland

    Clinical Genetics

    C. Cybulski, J. Lubiński, D. Wokołorczyk, W. Kuźniak, A. Kashyap, V. Sopik, T. Huzarski, J. Gronwald, T. Byrski, M. Szwiec, A. Jakubowska, B. Górski, T. Dębniak, S.A Narod and M.R Akbari

    Article first published online : 13 NOV 2014, DOI: 10.1111/cge.12524

  19. 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

  20. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 401–410, M. Ruggieri, A. Polizzi, A. Spalice, V. Salpietro, R. Caltabiano, V. D'Orazi, P. Pavone, C. Pirrone, G. Magro, N. Platania, S. Cavallaro, M. Muglia and F. Nicita

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12498