Table of contents

Original articles

• Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

  (12 March, 2011)

  Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine Lefèvre, Victoria Perrier-Trudova, Pierre Rustin, Michel Barrois, Abdelhamid Slama, Marie-Françoise Avril, Didier Bessis, Olivier Caron, Frédéric Caux, Patrick Collignon, Isabelle Coupier, Carol Cremin, Hélène Dollfus, Catherine Dugast, Bernard Escudier, Laurence Faivre, Michel Field, Brigitte Gilbert-Dussardier, Nicolas Janin, Yves Leport, Dominique Leroux, Dan Lipsker, Félicia Malthieu, Barbara McGilliwray, Christine Maugard, Arnaud Méjean, Isabelle Mortemousque, Ghislaine Plessis, Bruce Poppe, Christelle Pruvost-Balland, Serena Rooker, Joelle Roume, Nadem Soufir, Michelle Steinraths, Min-Han Tan, Christine Théodore, Luc Thomas, Pierre Vabres, Emmanuel Van Glabeke, Jean-Baptiste Meric, Virginie Verkarre, Gilbert Lenoir, Virginie Joulin, Sophie Deveaux, Veronica Cusin, Jean Feunteun, Bin Tean Teh, Brigitte Bressac-de Paillerets, Stéphane Richard
• CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

  (20 November, 2010)

  Molly B Sheridan, Timothy W Hefferon, Nulang Wang, Christian Merlo, Carlos Milla, Drucy Borowitz, Eric D Green, Peter J Mogayzel, Garry R Cutting
• Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact (7 January, 2011)

  Maria Castella, Roser Pujol, Elsa Callén, Maria J Ramírez, José A Casado, Maria Talavera, Teresa Ferro, Arturo Muñoz, Julián Sevilla, Luis Madero, Elena Cela, Cristina Beléndez, Cristina Díaz de Heredia, Teresa Olivé, José Sánchez de Toledo, Isabel Badell, Jesús Estella, Ángeles Dasí, Antonia Rodríguez-Villa, Pedro Gómez, María Tapia, Antonio Molinés, Ángela Figuera, Juan A Bueren, Jordi Surrallés
• Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

  (25 January, 2011)

  Pia Ostergaard, Michael A Simpson, Glen Brice, Sahar Mansour, Fiona C Connell, Alexandros Onoufriadis, Anne H Child, Jae Hwang, Kamini Kalidas, Peter S Mortimer, Richard Trembath, Steve Jeffery
• A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations (28 January, 2011)

  Saba Sharif, Meena Upadhyaya, Rosalie Ferner, Elisa Majounie, Andrew Shenton, Michael Baser, Nalin Thakker, D Gareth Evans
• Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset (28 January, 2011)

  Miriam J Smith, Jenny E Higgs, Naomi L Bowers, Dorothy Halliday, Joan Paterson, James Gillespie, Susan M Huson, Simon R Freeman, Simon Lloyd, Scott A Rutherford, Andrew T King, Andrew J Wallace, Richard T Ramsden, D Gareth R Evans
• Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK

  (15 February, 2011)

  Anne E Cust, Mark Harland, Enes Makalic, Daniel Schmidt, James G Dowty, Joanne F Aitken, Chantelle Agha-Hamilton, Bruce K Armstrong, Jenny H Barrett, May Chan, Yu-Mei Chang, Joanne Gascoyne, Graham G Giles, Elizabeth A Holland, Richard F Kefford, Kairen Kukalizch, Johanna Lowery, Juliette A Randerson-Moor, Helen Schmid, Claire F Taylor, Linda Whitaker, John L Hopper, Julia A Newton-Bishop, Graham J Mann, D Timothy Bishop, Mark A Jenkins
• DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

  (25 January, 2011) Free

  Ingrid Slade, Chiara Bacchelli, Helen Davies, Anne Murray, Fatemeh Abbaszadeh, Sandra Hanks, Rita Barfoot, Amos Burke, Julia Chisholm, Martin Hewitt, Helen Jenkinson, Derek King, Bruce Morland, Barry Pizer, Katrina Prescott, Anand Saggar, Lucy Side, Heidi Traunecker, Sucheta Vaidya, Paul Ward, P Andrew Futreal, Gordan Vujanic, Andrew G Nicholson, Neil Sebire, Clare Turnbull, John R Priest, Kathryn Pritchard-Jones, Richard Houlston, Charles Stiller, Michael R Stratton, Jenny Douglas, Nazneen Rahman