Epidemiology

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
Stefan Meyer, Marc Tischkowitz, Kate Chandler, Alan Gillespie, Jillian M Birch, D Gareth Evans

Journal of Medical Genetics Feb 2014, 51 (2) 71-75; DOI: 10.1136/jmedgenet-2013-101642
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
John H Livingston, Jean-Pierre Lin, Russell C Dale, Deepak Gill, Paul Brogan, Arnold Munnich, Manju A Kurian, Victoria Gonzalez-Martinez, Christian G E L De Goede, Alastair Falconer, Gabriella Forte, Emma M Jenkinson, Paul R Kasher, Marcin Szynkiewicz, Gillian I Rice, Yanick J Crow

Journal of Medical Genetics Feb 2014, 51 (2) 76-82; DOI: 10.1136/jmedgenet-2013-102038
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal
A V Postma, M Alders, M Sylva, C M Bilardo, E Pajkrt, R R van Rijn, S Schulte-Merker, S Bulk, S Stefanovic, A Ilgun, P Barnett, M M A M Mannens, A F M Moorman, R J Oostra, M C van Maarle

Journal of Medical Genetics Feb 2014, 51 (2) 90-97; DOI: 10.1136/jmedgenet-2013-102001
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
L van der Tol, B E Smid, B J H M Poorthuis, M Biegstraaten, R H Lekanne Deprez, G E Linthorst, C E M Hollak

Journal of Medical Genetics Jan 2014, 51 (1) 1-9; DOI: 10.1136/jmedgenet-2013-101857
Somatic point mutations occurring early in development: a monozygotic twin study
Rui Li, Alexandre Montpetit, Marylène Rousseau, Si Yu Margaret Wu, Celia M T Greenwood, Timothy D Spector, Michael Pollak, Constantin Polychronakos, J Brent Richards

Journal of Medical Genetics Jan 2014, 51 (1) 28-34; DOI: 10.1136/jmedgenet-2013-101712
Criteria and prediction models for mismatch repair gene mutations: a review
Aung Ko Win, Robert J MacInnis, James G Dowty, Mark A Jenkins

Journal of Medical Genetics Dec 2013, 50 (12) 785-793; DOI: 10.1136/jmedgenet-2013-101803
A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, Luitgard Graul-Neumann, Denise Horn, Juliane Hoyer, Walter Just, Anita Rauch, André Reis, Bernd Wollnik, Michael Zeschnigk, Hermann-Josef Lüdecke, Dagmar Wieczorek

Journal of Medical Genetics Dec 2013, 50 (12) 838-847; DOI: 10.1136/jmedgenet-2013-101918
Advances in osteoarthritis genetics
Kalliope Panoutsopoulou, Eleftheria Zeggini

Journal of Medical Genetics Nov 2013, 50 (11) 715-724; DOI: 10.1136/jmedgenet-2013-101754
Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
Maria João Nabais Sá, Nathalie Fieremans, Arjan P M de Brouwer, Rita Sousa, Fernando Teixeira e Costa, Maria José Brito, Fernanda Carvalho, Márcia Rodrigues, Francisco Teixeira de Sousa, Joana Felgueiras, Fernando Neves, Adelino Carvalho, Umbelina Ramos, José Ramón Vizcaíno, Susana Alves, Filipa Carvalho, Guy Froyen, João Paulo Oliveira

Journal of Medical Genetics Nov 2013, 50 (11) 745-753; DOI: 10.1136/jmedgenet-2013-101670
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kevin P Kenna, Russell L McLaughlin, Susan Byrne, Marwa Elamin, Mark Heverin, Elaine M Kenny, Paul Cormican, Derek W Morris, Colette G Donaghy, Daniel G Bradley, Orla Hardiman

Journal of Medical Genetics Nov 2013, 50 (11) 776-783; DOI: 10.1136/jmedgenet-2013-101795

Main menu

Epidemiology

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

Epidemiology

Pages