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There are 73524 results for: content related to: Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

  1. Molecular genetic analysis of 30 families with Joubert syndrome

    Clinical Genetics

    T. Suzuki, N. Miyake, Y. Tsurusaki, N. Okamoto, A. Alkindy, A. Inaba, M. Sato, S. Ito, K. Muramatsu, S. Kimura, D. Ieda, S. Saitoh, M. Hiyane, H. Suzumura, K. Yagyu, H. Shiraishi, M. Nakajima, N. Fueki, Y. Habata, Y. Ueda, Y. Komatsu, K. Yan, K. Shimoda, Y. Shitara, S. Mizuno, K. Ichinomiya, K. Sameshima, Y. Tsuyusaki, K. Kurosawa, Y. Sakai, K. Haginoya, Y. Kobayashi, C. Yoshizawa, M. Hisano, M. Nakashima, H. Saitsu, S. Takeda and N. Matsumoto

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12836

  2. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 3–15, S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12737

  3. 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

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  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

    Version of Record online : 26 APR 2013, DOI: 10.1111/cge.12081

  5. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 30 JUL 2015, DOI: 10.1111/cge.12635

  6. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

    Clinical Genetics

    Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad and H. Najmabadi

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12810

  7. Refining the continuum of CFTR-associated disorders in the era of newborn screening

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 539–549, H. Levy, M. Nugent, K. Schneck, D. Stachiw-Hietpas, A. Laxova, O. Lakser, M. Rock, M.K. Dahmer, J. Biller, S.Z. Nasr, M. Baker, S.A. McColley, P. Simpson and P.M. Farrell

    Version of Record online : 20 JAN 2016, DOI: 10.1111/cge.12711

  8. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 659–668, C. Mouden, C. Dubourg, W. Carré, S. Rose, C. Quelin, L. Akloul, H. Hamdi-Rozé, G. Viot, H. Salhi, P. Darnault, S. Odent, V. Dupé and V. David

    Version of Record online : 16 FEB 2016, DOI: 10.1111/cge.12722

  9. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 285–294, K. Rai, R. Pilarski, C.M. Cebulla and M.H. Abdel-Rahman

    Version of Record online : 14 JUL 2015, DOI: 10.1111/cge.12630

  10. Genetic aspects of Huntington's disease in Latin America. A systematic review

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 295–303, R.M. Castilhos, M.C. Augustin, J.A. Santos, C. Perandones, M.L. Saraiva-Pereira, L.B. Jardim and on Behalf of Rede Neurogenética

    Version of Record online : 13 AUG 2015, DOI: 10.1111/cge.12641

  11. Fetal growth patterns in Beckwith–Wiedemann syndrome

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 21–27, A. Mussa, S. Russo, A. de Crescenzo, A. Freschi, L. Calzari, S. Maitz, M. Macchiaiolo, C. Molinatto, G. Baldassarre, M. Mariani, L. Tarani, M.F. Bedeschi, D. Milani, D. Melis, A. Bartuli, M.V. Cubellis, A. Selicorni, M.C. Silengo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 15 MAR 2016, DOI: 10.1111/cge.12759

  12. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 630–635, M. Lefebvre, D. Sanlaville, N. Marle, C. Thauvin-Robinet, E. Gautier, S.E. Chehadeh, A.-L. Mosca-Boidron, J. Thevenon, P. Edery, M.-P. Alex-Cordier, M. Till, S. Lyonnet, V. Cormier-Daire, J. Amiel, A. Philippe, S. Romana, V. Malan, A. Afenjar, S. Marlin, S. Chantot-Bastaraud, P. Bitoun, B. Heron, E. Piparas, F. Morice-Picard, S. Moutton, N. Chassaing, A. Vigouroux-Castera, J. Lespinasse, S. Manouvrier-Hanu, O. Boute-Benejean, C. Vincent-Delorme, F. Petit, N.L. Meur, M. Marti-Dramard, A.-M. Guerrot, A. Goldenberg, S. Redon, C. Ferrec, S. Odent, C.L. Caignec, S. Mercier, B. Gilbert-Dussardier, A. Toutain, S. Arpin, S. Blesson, I. Mortemousque, E. Schaefer, D. Martin, N. Philip, S. Sigaudy, T. Busa, C. Missirian, F. Giuliano, H.K. Benailly, P.K.V. Kien, B. Leheup, C. Benneteau, L. Lambert, R. Caumes, P. Kuentz, I. François, D. Heron, B. Keren, E. Cretin, P. Callier, S. Julia and L. Faivre

    Version of Record online : 4 JAN 2016, DOI: 10.1111/cge.12696

  13. 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

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12498

  14. Expanding the genotypic spectrum of Perrault syndrome

    Clinical Genetics

    L.A.M. Demain, J.E. Urquhart, J. O'Sullivan, S.G. Williams, S.S. Bhaskar, E.M. Jenkinson, C.M. Lourenco, A. Heiberg, S.H. Pearce, S.A. Shalev, W.W. Yue, S. Mackinnon, K.J. Munro, R. Newbury-Ecob, K. Becker, M.J. Kim, R.T. O' Keefe and W.G. Newman

    Version of Record online : 1 APR 2016, DOI: 10.1111/cge.12776

  15. Prenatal diagnosis of congenital myopathies and muscular dystrophies

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 199–210, D. Massalska, J.G. Zimowski, J. Bijok, A. Kucińska-Chahwan, A. Łusakowska, G. Jakiel and T. Roszkowski

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12801

  16. 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

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12138

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    A role for TENM1 mutations in congenital general anosmia

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 211–219, A. Alkelai, T. Olender, R. Haffner-Krausz, M.M. Tsoory, V. Boyko, P. Tatarskyy, R. Gross-Isseroff, R. Milgrom, S. Shushan, I. Blau, E. Cohn, R. Beeri, E. Levy-Lahad, E. Pras and D. Lancet

    Version of Record online : 31 MAY 2016, DOI: 10.1111/cge.12782

  18. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 334–342, S. Boppudi, N. Bögershausen, H.B. Hove, E.F. Percin, D. Aslan, R. Dvorsky, G. Kayhan, Y. Li, C. Cursiefen, I. Tantcheva-Poor, P.B. Toft, O. Bartsch, C. Lissewski, I. Wieland, S. Jakubiczka, B. Wollnik, M.R. Ahmadian, L.M. Heindl and M. Zenker

    Version of Record online : 29 APR 2016, DOI: 10.1111/cge.12775

  19. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 690–699, M. Neuillé, S. Malaichamy, M. Vadalà, C. Michiels, C. Condroyer, R. Sachidanandam, S. Srilekha, T. Arokiasamy, M. Letexier, V. Démontant, J.-A. Sahel, P. Sen, I. Audo, N. Soumittra and C. Zeitz

    Version of Record online : 4 MAR 2016, DOI: 10.1111/cge.12746

  20. You have full text access to this OnlineOpen article
    Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 275–284, S.L. Sawyer, T. Hartley, D.A. Dyment, C.L. Beaulieu, J. Schwartzentruber, A. Smith, H.M. Bedford, G. Bernard, F.P. Bernier, B. Brais, D.E. Bulman, J. Warman Chardon, D. Chitayat, J. Deladoëy, B.A. Fernandez, P. Frosk, M.T. Geraghty, B. Gerull, W. Gibson, R.M. Gow, G.E. Graham, J.S. Green, E. Heon, G. Horvath, A.M. Innes, N. Jabado, R.H. Kim, R.K. Koenekoop, A. Khan, O.J. Lehmann, R. Mendoza-Londono, J.L. Michaud, S.M. Nikkel, L.S. Penney, C. Polychronakos, J. Richer, G.A. Rouleau, M.E. Samuels, V.M. Siu, O. Suchowersky, M.A. Tarnopolsky, G. Yoon, F.R. Zahir, FORGE Canada Consortium, Care4Rare Canada Consortium, J. Majewski and K.M. Boycott

    Version of Record online : 22 SEP 2015, DOI: 10.1111/cge.12654