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Genetics

  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
    Journal of Medical Genetics Dec 2016, 53 (12) 850-858; DOI: 10.1136/jmedgenet-2016-103909
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
    Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen S Stewart, Friedhelm Hildebrandt, Edgar Otto, Colin A Johnson, Katarzyna Szymanska, Nicholas Katsanis, Erica Davis, Robert Kleta, Mike Hubank, Stephen Doxsey, Andrew Jackson, Elia Stupka, Mark Winey, Philip L Beales
    Journal of Medical Genetics Mar 2015, 52 (3) 147-156; DOI: 10.1136/jmedgenet-2014-102691
  • Screening families with endometrial and colorectal cancers for germline mutations
    Tao Liu, Jindong Chen, Sima Salahshor, Shannon Kuismanen, Eva Holmberg, Henrik Grönberg, Päivi Peltomäki, Annika Lindblom
    Journal of Medical Genetics Sep 2001, 38 (9) e29; DOI: 10.1136/jmg.38.9.e29
  • CTNND2—a candidate gene for reading problems and mild intellectual disability
    Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand
    Journal of Medical Genetics Feb 2015, 52 (2) 111-122; DOI: 10.1136/jmedgenet-2014-102757
  • A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
    N V Morgan, C Bacchelli, P Gissen, J Morton, G B Ferrero, M Silengo, P Labrune, I Casteels, C Hall, P Cox, D A Kelly, R C Trembath, P J Scambler, E R Maher, F R Goodman, C A Johnson
    Journal of Medical Genetics Jun 2003, 40 (6) 431-435; DOI: 10.1136/jmg.40.6.431
  • Hirschsprung disease, associated syndromes and genetics: a review
    J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, for the Hirschsprung Disease Consortium
    Journal of Medical Genetics Jan 2008, 45 (1) 1-14; DOI: 10.1136/jmg.2007.053959
  • A dominant gene for developmental dyslexia on chromosome 3
    Jaana Nopola-Hemmi, Birgitta Myllyluoma, Tuomas Haltia, Mikko Taipale, Vesa Ollikainen, Timo Ahonen, Arja Voutilainen, Juha Kere, Elisabeth Widén
    Journal of Medical Genetics Oct 2001, 38 (10) 658-664; DOI: 10.1136/jmg.38.10.658
  • MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
    Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson
    Journal of Medical Genetics Mar 2015, 52 (3) 195-202; DOI: 10.1136/jmedgenet-2014-102730
  • EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts
    Johanna Huttenlocher, Rejko Krüger, Philipp Capetian, Katja Lohmann, Kathrin Brockmann, Ilona Csoti, Christine Klein, Daniela Berg, Thomas Gasser, Michael Bonin, Olaf Riess, Peter Bauer
    Journal of Medical Genetics Jan 2015, 52 (1) 37-41; DOI: 10.1136/jmedgenet-2014-102570
  • RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
    A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, S Amselem
    Journal of Medical Genetics Apr 2006, 43 (4) 326-333; DOI: 10.1136/jmg.2005.034868

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