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There are 3327 results for: content related to: Novel SLC9A6 mutations in two families with Christianson syndrome

  1. 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

  2. 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

  3. 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

  4. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 501–506, M. Avila, D.A. Dyment, J.V. Sagen, J. St-Onge, U. Moog, B.H.Y. Chung, S. Mo, S. Mansour, A. Albanese, S. Garcia, D.O. Martin, A.A. Lopez, T. Claudi, R. König, S.M. White, S.L. Sawyer, J.A. Bernstein, L. Slattery, R.K. Jobling, G. Yoon, C.J. Curry, M.L. Merrer, B.L. Luyer, D. Héron, M. Mathieu-Dramard, P. Bitoun, S. Odent, J. Amiel, P. Kuentz, J. Thevenon, M. Laville, Y. Reznik, C. Fagour, M.-L. Nunes, D. Delesalle, S. Manouvrier, O. Lascols, F. Huet, C. Binquet, L. Faivre, J.-B. Rivière, C. Vigouroux, P.R. Njølstad, A.M. Innes and C. Thauvin-Robinet

    Version of Record online : 27 NOV 2015, DOI: 10.1111/cge.12688

  5. 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

    Version of Record online : 26 MAR 2014, DOI: 10.1111/cge.12361

  6. 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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    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

  8. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

    Clinical Genetics

    A. Putoux, A. Alqahtani, L. Pinson, A.D.C. Paulussen, J. Michel, A. Besson, S. Mazoyer, I. Borg, S. Nampoothiri, A. Vasiljevic, A. Uwineza, D. Boggio, F. Champion, C.E. de Die-Smulders, T. Gardeitchik, W.K. van Putten, M.J. Perez, Y. Musizzano, F. Razavi, S. Drunat, A. Verloes, R. Hennekam, L. Guibaud, E. Alix, D. Sanlaville, G. Lesca and P. Edery

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12781

  9. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

    Clinical Genetics

    J. Thevenon, L. Duplomb, S. Phadke, T. Eguether, A. Saunier, M. Avila, V. Carmignac, A.-L. Bruel, J. St-Onge, Y. Duffourd, G.J. Pazour, B. Franco, T. Attie-Bitach, A. Masurel-Paulet, J.-B. Rivière, V. Cormier-Daire, C. Philippe, L. Faivre and C. Thauvin-Robinet

    Version of Record online : 29 APR 2016, DOI: 10.1111/cge.12785

  10. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 222–227, J.Y. Seo, K.-O. Lee, K.-H. Yoo, K.-W. Sung, H.H. Koo, S.-H. Kim, H.J. Kang, K.-D. Park, H.Y. Shin, H.-J. Baek, H. Kook, C.J. Lyu, J.-S. Song, M.J. Lee, J.-Y. Kim, Y.-T. Lim, K.-N. Koh, H.J. Im, J.J. Seo, H.-J. Kim and on behalf of the Korea Histiocytosis Working Party

    Version of Record online : 20 NOV 2015, DOI: 10.1111/cge.12682

  11. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 468–473, 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

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12543

  12. Fetal phenotypes in otopalatodigital spectrum disorders

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 371–377, S. Naudion, S. Moutton, I. Coupry, G. Sole, J. Deforges, E. Guerineau, C. Hubert, S. Deves, J. Pilliod, C. Rooryck, C. Abel, F. Le Breton, S. Collardeau-Frachon, M.P. Cordier, A.L. Delezoide, A. Goldenberg, P. Loget, J. Melki, S. Odent, S. Patrier, A. Verloes, G. Viot, S. Blesson, B. Bessières, D. Lacombe, B. Arveiler, C. Goizet and P. Fergelot

    Version of Record online : 29 OCT 2015, DOI: 10.1111/cge.12679

  13. 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

    Version of Record online : 7 OCT 2013, DOI: 10.1111/cge.12275

  14. 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

  15. 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

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

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 224–233, 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

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12482

  17. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 86–90, C Thauvin-Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, H Dollfus, S Rossignol, M Raynaud, C Philippe, C Badens, R Touraine, C Gomes, B Franco, E Lopez, N Elkhartoufi, L Faivre, A Munnich, N Boddaert, L Van Maldergem, F Encha-Razavi, S Lyonnet, M Vekemans, E Escudier and T Attié-Bitach

    Version of Record online : 4 OCT 2012, DOI: 10.1111/cge.12013

  18. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 584–589, M. Nizon, M. Henry, C. Michot, C. Baumann, A. Bazin, B. Bessières, S. Blesson, M.-P. Cordier-Alex, A. David, A. Delahaye-Duriez, A.-L. Delezoïde, A. Dieux-Coeslier, M. Doco-Fenzy, L. Faivre, A. Goldenberg, V. Layet, P. Loget, S. Marlin, J. Martinovic, S. Odent, L. Pasquier, G. Plessis, F. Prieur, A. Putoux, M. Rio, H. Testard, J.-P. Bonnefont and V. Cormier-Daire

    Version of Record online : 3 FEB 2016, DOI: 10.1111/cge.12720

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

    Clinical Genetics

    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

  20. Expanding the clinical spectrum of the ‘HDAC8-phenotype’ – implications for molecular diagnostics, counseling and risk prediction

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 564–573, I. Parenti, C. Gervasini, J. Pozojevic, K.S. Wendt, E. Watrin, J. Azzollini, D. Braunholz, K. Buiting, A. Cereda, H. Engels, L. Garavelli, R. Glazar, B. Graffmann, L. Larizza, H.J. Lüdecke, M. Mariani, M. Masciadri, J. Pié, F.J. Ramos, S. Russo, A. Selicorni, M. Stefanova, T.M. Strom, R. Werner, J. Wierzba, G. Zampino, G. Gillessen-Kaesbach, D. Wieczorek and F.J. Kaiser

    Version of Record online : 25 JAN 2016, DOI: 10.1111/cge.12717