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Molecular genetics

  • Replacement of the myotonic dystrophy type 1 CTG repeat with ‘non-CTG repeat’ insertions in specific tissues
    Michelle M Axford, Arturo López-Castel, Masayuki Nakamori, Charles A Thornton, Christopher E Pearson
    Journal of Medical Genetics Jul 2011, 48 (7) 438-443; DOI: 10.1136/jmg.2010.085944
  • CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
    Christel Thauvin-Robinet, Anne Munck, Frédéric Huet, Alix de Becdelièvre, Clément Jimenez, Guy Lalau, Elodie Gautier, Jacques Rollet, Jean Flori, Raphaëlle Nové-Josserand, Jean-Claude Soufir, Alain Haloun, Dominique Hubert, Elise Houssin, Gil Bellis, Gilles Rault, Albert David, Laurent Janny, Raphaël Chiron, Nathalie Rives, Dominique Hairion, Patrick Collignon, Antoine Valeri, Gilles Karsenty, Annick Rossi, Marie-Pierre Audrézet, Claude Férec, Julie Leclerc, Marie des Georges, Mireille Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, David Cheillan, Delphine Feldmann, Christine Clavel, Eric Bieth, Albert Iron, Brigitte Simon-Bouy, Vincent Izard, Julie Steffann, Stéphane Viville, Catherine Costa, Véronique Drouineaud, Patricia Fauque, Christine Binquet, Claire Bonithon-Kopp, Mike A Morris, Laurence Faivre, Michel Goossens, Michel Roussey, Emmanuelle Girodon, the collaborating working group on p.Arg117His
    Journal of Medical Genetics Apr 2013, 50 (4) 220-227; DOI: 10.1136/jmedgenet-2012-101427
  • Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
    A Trizzino, U zur Stadt, I Ueda, K Risma, G Janka, E Ishii, K Beutel, J Sumegi, S Cannella, D Pende, A Mian, J-I Henter, G Griffiths, A Santoro, A Filipovich, M Aricò, for the Histiocyte Society HLH Study group
    Journal of Medical Genetics Jan 2008, 45 (1) 15-21; DOI: 10.1136/jmg.2007.052670
  • Transmission of germline TP53 mutations from male carriers to female partners
    Sophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, Aude Lamy, Jean-Michel Flaman, Ludovic Mansuy, Myriam Bronner, Christine Lasset, Laurence Brugières, François Golfier, Thierry Frebourg
    Journal of Medical Genetics Mar 2015, 52 (3) 145-146; DOI: 10.1136/jmedgenet-2014-102853
  • Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer
    D G Evans, A Howell, D Ward, F Lalloo, J L Jones, D M Eccles
    Journal of Medical Genetics Aug 2011, 48 (8) 520-522; DOI: 10.1136/jmedgenet-2011-100006
  • A germline mutation in PBRM1 predisposes to renal cell carcinoma
    Patrick R Benusiglio, Sophie Couvé, Brigitte Gilbert-Dussardier, Sophie Deveaux, Hélène Le Jeune, Mélanie Da Costa, Gaëlle Fromont, Françoise Memeteau, Mokrane Yacoub, Isabelle Coupier, Dominique Leroux, Arnaud Méjean, Bernard Escudier, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Christophe Blondel, Eric Frouin, Bin T Teh, Sophie Ferlicot, Brigitte Bressac-de Paillerets, Stéphane Richard, Sophie Gad
    Journal of Medical Genetics Jun 2015, 52 (6) 426-430; DOI: 10.1136/jmedgenet-2014-102912
  • Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
    Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato
    Journal of Medical Genetics Apr 2017, 54 (4) 224-235; DOI: 10.1136/jmedgenet-2016-103985
  • Diagnostic value of exome and whole genome sequencing in craniosynostosis
    Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie
    Journal of Medical Genetics Apr 2017, 54 (4) 260-268; DOI: 10.1136/jmedgenet-2016-104215
  • Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
    Sha Tang, Jing Wang, Ni-Chung Lee, Margherita Milone, Michelle C Halberg, Eric S Schmitt, William J Craigen, Wei Zhang, Lee-Jun C Wong
    Journal of Medical Genetics Oct 2011, 48 (10) 669-681; DOI: 10.1136/jmedgenet-2011-100222
  • Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
    Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini
    Journal of Medical Genetics Jun 2015, 52 (6) 405-412; DOI: 10.1136/jmedgenet-2014-102959

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