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There are 45418 results for: content related to: OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

  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

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

  2. 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

  3. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 576–588, S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, A.-L. Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, A.-M. Guerrot, P. Chambon, V. Satre, C. Coutton, P.-S. Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen, M.-L. Moutard, M.-C. Addor, S. Lebon, D. Martinet, J.-L. Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, A.-C. Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes and L. Faivre

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12898

  4. 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

  5. You have free access to this content
    Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

    Human Mutation

    Volume 30, Issue 2, February 2009, Pages: E320–E329, Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Eric Bieth, Valérie Layet, Michèle Mathieu, Ahmad Teebi, James Lespinasse, Patrick Callier, Francine Mugneret, Alice Masurel-Paulet, Elodie Gautier, Frédéric Huet, Jean-Raymond Teyssier, Mario Tosi, Thierry Frébourg and Laurence Faivre

    Version of Record online : 19 NOV 2008, DOI: 10.1002/humu.20888

  6. 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

  7. 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

  8. 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

  9. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

    Clinical Genetics

    N. Lehman, A.C. Mazery, A. Visier, C. Baumann, D. Lachesnais, Y. Capri, A. Toutain, S. Odent, M. Mikaty, C. Goizet, E. Taupiac, M.L. Jacquemont, E. Sanchez, E. Schaefer, V. Gatinois, L. Faivre, D. Minot, H. Kayirangwa, K.-H.L.Q. Sang, N. Boddaert, S. Bayard, D. Lacombe, S. Moutton, I. Touitou, M. Rio, J. Amiel, S. Lyonnet, D. Sanlaville, M.C. Picot and D. Geneviève

    Version of Record online : 18 MAY 2017, DOI: 10.1111/cge.13010

  10. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Pages: 2847–2859, Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton, Andree Delahaye-Duriez, Thierry Frebourg, Vincent Gatinois, Anne-Marie Guerrot, David Genevieve, Francois Lecoquierre, Aurélia Jacquette, Philippe Khau Van Kien, Bruno Leheup, Sandrine Marlin, Alain Verloes, Vincent Michaud, Gwenael Nadeau, Cyril Mignot, Philippe Parent, Massimiliano Rossi, Annick Toutain, Elise Schaefer, Christel Thauvin-Robinet, Lionel Van Maldergem, Julien Thevenon, Véronique Satre, Laurence Perrin, Catherine Vincent-Delorme, Arthur Sorlin, Chantal Missirian, Laurent Villard, Julien Mancini, Pascale Saugier-Veber and Nicole Philip

    Version of Record online : 8 SEP 2016, DOI: 10.1002/ajmg.a.37878

  11. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis

    Human Mutation

    Volume 12, Issue 4, 1998, Pages: 259–266, Pascale Saugier-Veber, Cosette Martin, Nathalie Le Meur, Stanislas Lyonnet, Arnold Munnich, Albert David, Alain Hénocq, Delphine Héron, Philippe Jonveaux, Sylvie Odent, Sylvie Manouvrier, Anne Moncla, Nicole Morichon, Nicole Philip, Daniel Satge, Mario Tosi and T Frébourg

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A

  12. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 671–678, Julie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, Fréderic Vaysse, Didier Lacombe, Muriel Holder-Espinasse, Marc Abramowicz, Christine Coubes, Ghislaine Plessis, Laurence Faivre, Bénédicte Demeer, Catherine Vincent-Delorme, Hélène Dollfus, Sabine Sigaudy, Encarna Guillén-Navarro, Alain Verloes, Philippe Jonveaux, Dominique Martin-Coignard, Estelle Colin, Eric Bieth, Patrick Calvas and Nicolas Chassaing

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35747

  13. You have free access to this content
    Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Human Mutation

    Volume 36, Issue 9, September 2015, Pages: 894–902, Frederic Brioude, Irène Netchine, Francoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert-Bellanger, Lydie Burglen, Fabienne Giuliano, Jean-Luc Alessandri, Valérie Cormier-Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Berenice Doray, Alain Verloes, Géraldine Viot, Yves Le Bouc and Sylvie Rossignol

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22824

  14. 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

  15. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 464–469, F. Petit, A.-S. Jourdain, J. Andrieux, G. Baujat, C. Baumann, C. Beneteau, A. David, L. Faivre, D. Gaillard, B. Gilbert-Dussardier, P.-S. Jouk, C. Le Caignec, P. Loget, L. Pasquier, N. Porchet, M. Holder-Espinasse, S. Manouvrier-Hanu and F. Escande

    Version of Record online : 15 JUL 2013, DOI: 10.1111/cge.12219

  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

  17. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 258–265, S Saal, L Faivre, Bernard Aral, N Gigot, A Toutain, L Van Maldergem, A Destree, I Maystadt, J-P Cosyns, P-S Jouk, B Loeys, D Chauveau, E Bieth, V Layet, M Mathieu, J Lespinasse, A Teebi, B Franco, E Gautier, C Binquet, A Masurel-Paulet, C Mousson, J-B Gouyon, F Huet and C Thauvin-Robinet

    Version of Record online : 8 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01290.x

  18. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 116–129, Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, Valérie Malan, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Patrick Callier, Mathilde Lefebvre, Nathalie Marle, Christèle Dubourg, Sophie Julia, Catherine Sarret, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Cédric Le Caignec, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Alice Goldenberg, Valérie Cormier-Daire, Marlène Rio, Jean-Paul Bonnefont, Julien Thevenon, Bernard Echenne, Hubert Journel, Alexandra Afenjar, Lydie Burglen, Thierry Bienvenu, Marie-Claude Addor, Sébastien Lebon, Danièle Martinet, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Françoise Devillard, Charles Coutton, Didier Lacombe, Marie-Ange Delrue, Nicole Philip, Anne Moncla, Catherine Badens, Nathalie Perreton, Alice Masurel, Christel Thauvin-Robinet, Vincent Des Portes and Laurent Guibaud

    Version of Record online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37384

  19. RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin–Lowry phenotype in a three-generation family

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 96–99, I Maystadt, A Destree, V Benoit, A Aeby, D Lederer, S Moortgat, D Jurkiewicz, M Krajewska-Walasek, A Hanauer and GM Thomas

    Version of Record online : 17 MAR 2013, DOI: 10.1111/cge.12122

  20. Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 111–122, Mathilde Nizon, Joris Andrieux, Caroline Rooryck, Marie-Christine de Blois, Emilie Bourel-Ponchel, Béatrice Bourgois, Odile Boute, Albert David, Bruno Delobel, Bénédicte Duban-Bedu, Fabienne Giuliano, Alice Goldenberg, Sarah Grotto, Delphine Héron, Houda Karmous-Benailly, Boris Keren, Didier Lacombe, Jean-Michel Lapierre, Cédric Le Caignec, Eric Le Galloudec, Martine Le Merrer, Anne-Gaëlle Le Moing, Michèle Mathieu-Dramard, Sylvie Nusbaum, Olivier Pichon, Lucile Pinson, Odile Raoul, Marlène Rio, Serge Romana, Agnès Roubertie, Laurence Colleaux, Catherine Turleau, Michel Vekemans, Rima Nabbout and Valérie Malan

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36807