Clinical Genetics

Cover image for Vol. 88 Issue 6

Edited By: Michael R. Hayden

Impact Factor: 3.931

ISI Journal Citation Reports © Ranking: 2014: 42/167 (Genetics & Heredity)

Online ISSN: 1399-0004

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Recently Published Articles

  1. Systematic review of chronic pain in persons with Marfan syndrome

    Gry Velvin, Trine Bathen, Svend Rand-Hendriksen and Amy Østertun Geirdal

    Accepted manuscript online: 26 NOV 2015 01:28AM EST | DOI: 10.1111/cge.12699

  2. SATB2-associated syndrome presenting with Rett-like phenotypes

    Jin Sook Lee, Yongjin Yoo, Byung Chan Lim, Ki Joong Kim, Murim Choi and Jong-Hee Chae

    Accepted manuscript online: 24 NOV 2015 02:32AM EST | DOI: 10.1111/cge.12698

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

    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

    Article first published online: 20 NOV 2015 | DOI: 10.1111/cge.12682

  4. Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome

    JJ Braun, V Noblet, S Kremer, S Molière, H Dollfus, V Marion, N Goetz, J Muller and S Riehm

    Accepted manuscript online: 20 NOV 2015 01:35AM EST | DOI: 10.1111/cge.12697

    This MRI coronal T2-fat-sat-weighted view shows atrophic olfactory bulb (OB) in a BBS patient with anosmia. Olfactory dysfunction exploration remains difficult. Usually only subjective tests are used: psychophysical olfactory methods. OB MRI visual and volumetric evaluations are reproducible and good correlated technics with OB atrophy. Therefor MRI allows to assess olfactory dysfunction, a constant and cardinal feature in BBS patients.

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

    Mathilde Lefebvre, Damien Sanlaville, Nathalie Marle, Christel Thauvin-Robinet, Elodie Gautier, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Julien Thevenon, Patrick Edery, Marie-Pierre Alex-Cordier, Marianne Till, Stanislas Lyonnet, Valerie Cormier-Daire, Jeanne Amiel, Anne Philippe, Serge Romana, Valérie Malan, Alexandra Afenjar, Sandrine Marlin, Sandra Chantot-Bastaraud, Pierre Bitoun, Bénédicte Heron, Eva Piparas, Fanny Morice-Picard, Sébastien Moutton, Nicolas Chassaing, Adeline Vigouroux-Castera, James Lespinasse, Sylvie Manouvrier-Hanu, Odile Boute-Benejean, Catherine Vincent-Delorme, Florence Petit, Nathalie Le Meur, Michèle Marti-Dramard, Anne-Marie Guerrot, Alice Goldenberg, Sylvia Redon, Claude Ferrec, Sylvie Odent, Cédric Le Caignec, Sandra Mercier, Brigitte Gilbert-Dussardier, Annick Toutain, Stéphanie Arpin, Sophie Blesson, Isabelle Mortemousque, Elise Schaefer, Dominique Martin, Nicole Philip, Sabine Sigaudy, Tiffany Busa, Chantal Missirian, Fabienne Giuliano, Houda Karmous Benailly, Philippe Khau Van Kien, Bruno Leheup, Claire Benneteau, Laetitia Lambert, Roseline Caumes, Paul Kuentz, Irène François, Delphine Heron, Boris Keren, Elodie Cretin, Patrick Callier, Sophie Julia and Laurence Faivre

    Accepted manuscript online: 19 NOV 2015 12:32AM EST | DOI: 10.1111/cge.12696