Epidemiology

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Porcia T Bradford, Alisa M Goldstein, Deborah Tamura, Sikandar G Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Kristen M Pike, Arati Raziuddin, Teri M Plona, John J DiGiovanna, Margaret A Tucker, Kenneth H Kraemer

Journal of Medical Genetics Mar 2011, 48 (3) 168-176; DOI: 10.1136/jmg.2010.083022
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
Christopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, Holger Prokisch, Birgit Haberberger, Matthias Gautschi, Annemarie Häberli, Sabina Gallati, André Schaller

Journal of Medical Genetics Mar 2014, 51 (3) 170-175; DOI: 10.1136/jmedgenet-2013-101932
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12
D Yan, X Ke, S H Blanton, X M Ouyang, A Pandya, L L Du, W E Nance, X Z Liu

Journal of Medical Genetics Feb 2006, 43 (2) 170-174; DOI: 10.1136/jmg.2005.034710
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
Belaïd Imessaoudene, Jean-Paul Bonnefont, Ghislaine Royer, Valérie Cormier-Daire, Stanislas Lyonnet, Gilles Lyon, Arnold Munnich, Jeanne Amiel

Journal of Medical Genetics Mar 2001, 38 (3) 171-174; DOI: 10.1136/jmg.38.3.171
Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
Y He, G Zhou, Y Zhai, X Dong, L Lv, F He, K Yao

Journal of Medical Genetics Feb 2005, 42 (2) 172-176; DOI: 10.1136/jmg.2004.022616
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
Zhong Liu, Yanrui Song, Dan Li, Xiangyu He, Shishi Li, Bifeng Wu, Wei Wang, Shulian Gu, Xiaoyu Zhu, Xuexiang Wang, Qiyin Zhou, Yu Dai, Qingfeng Yan

Journal of Medical Genetics Mar 2014, 51 (3) 176-184; DOI: 10.1136/jmedgenet-2013-101818
A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families
H Koillinen, P Lahermo, J Rautio, J Hukki, M Peyrard-Janvid, J Kere

Journal of Medical Genetics Feb 2005, 42 (2) 177-184; DOI: 10.1136/jmg.2004.019646
Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, M-P Buisine, M Nilbert, A Lindblom, T Frebourg

Journal of Medical Genetics Jan 2004, 41 (1) 18-20; DOI: 10.1136/jmg.2003.012062
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
François-Guillaume Debray, Charles Morin, Annie Janvier, Josée Villeneuve, Bruno Maranda, Rachel Laframboise, Jacques Lacroix, Jean-Claude Decarie, Yves Robitaille, Marie Lambert, Brian H Robinson, Grant A Mitchell

Journal of Medical Genetics Mar 2011, 48 (3) 183-189; DOI: 10.1136/jmg.2010.081976
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
Laurent Villard, Marie-Claude Bonino, Fatima Abidi, Angela Ragusa, Jérôme Belougne, Anne-Marie Lossi, Laurie Seaver, Jean-Paul Bonnefont, Corrado Romano, Marco Fichera, Didier Lacombe, André Hanauer, Nicole Philip, Charles Schwartz, Michel Fontés

Journal of Medical Genetics Mar 1999, 36 (3) 183-186; DOI: 10.1136/jmg.36.3.183

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