JMG Online mutation reports

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Mylène Gilleron, Valérie Desquiret-Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil-Taris, Delphine Martinez, Pauline Gaignard, Kim-Hanh Le Quan Sang, Patrizia Amati-Bonneau, Marni J Falk, Catherine Florentz, Brigitte Chabrol, Isabelle Durand-Zaleski, Véronique Paquis-Flucklinger

10.1136/jmedgenet-2013-101604

July 11, 2013

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

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

10.1136/jmg.2010.083790

January 25, 2011