Surgery

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man

Journal of Medical Genetics Feb 2016, 53 (2) 127-131; DOI: 10.1136/jmedgenet-2015-103361
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, Michaela Jaksch

Journal of Medical Genetics Sep 2000, 37 (9) 669-673; DOI: 10.1136/jmg.37.9.669
Identification of novel genetic causes of Rett syndrome-like phenotypes
Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel

Journal of Medical Genetics Mar 2016, 53 (3) 190-199; DOI: 10.1136/jmedgenet-2015-103568
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Claudia Di Blasi, Serena Sansanelli, Alessandra Ruggieri, Manuela Moriggi, Michele Vasso, Adamo Pio D'Adamo, Flavia Blasevich, Simona Zanotti, Cecilia Paolini, Feliciano Protasi, Frediano Tezzon, Cecilia Gelfi, Lucia Morandi, Mauro Pessia, Marina Mora

Journal of Medical Genetics Sep 2015, 52 (9) 617-626; DOI: 10.1136/jmedgenet-2014-102882
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
Sabrina Sacconi, Pilar Camaño, Jessica C de Greef, Richard J L F Lemmers, Leonardo Salviati, Pascal Boileau, Adolfo Lopez de Munain Arregui, Silvère M van der Maarel, Claude Desnuelle

Journal of Medical Genetics Jan 2012, 49 (1) 41-46; DOI: 10.1136/jmedgenet-2011-100101
Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy
S Singh, I Sethi, S Francheschetti, C Riggio, G Avanzini, K Yamakawa, A V Delgado-Escueta, S Ganesh

Journal of Medical Genetics Sep 2006, 43 (9) e48; DOI: 10.1136/jmg.2005.039479
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
Clare M Conn, Jean Cozzi, Joyce C Harper, Robert M L Winston, Joy D A Delhanty

Journal of Medical Genetics Jan 1999, 36 (1) 45-50; DOI: 10.1136/jmg.36.1.45
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor

Journal of Medical Genetics Sep 2016, 53 (9) 634-641; DOI: 10.1136/jmedgenet-2015-103576
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
Rebecca C Fitzgerald, Richard Hardwick, David Huntsman, Fatima Carneiro, Parry Guilford, Vanessa Blair, Daniel C Chung, Jeff Norton, Krishnadath Ragunath, J Han Van Krieken, Sarah Dwerryhouse, Carlos Caldas

Journal of Medical Genetics Jul 2010, 47 (7) 436-444; DOI: 10.1136/jmg.2009.074237
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
Virginia Barone, Ornella Massa, Elena Intravaia, Adele Bracco, Antonella Di Martino, Vincenzo Tegazzin, Santolo Cozzolino, Vincenzo Sorrentino

Journal of Medical Genetics Feb 1999, 36 (2) 115-118; DOI: 10.1136/jmg.36.2.115

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