Paediatric oncology

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
Sara Benito-Sanz, Jose Luis Royo, Eva Barroso, Beatriz Paumard-Hernández, Ana C Barreda-Bonis, Pengfei Liu, Ricardo Gracía, James R Lupski, Ángel Campos-Barros, José Luis Gómez-Skarmeta, Karen Elise Heath

Journal of Medical Genetics Jul 2012, 49 (7) 442-450; DOI: 10.1136/jmedgenet-2011-100678
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population
Mary L McMaster, Alisa M Goldstein, Dilys M Parry

Journal of Medical Genetics Jul 2011, 48 (7) 444-449; DOI: 10.1136/jmg.2010.085092
Multiple meningiomas: differential involvement of the NF2 gene in children and adults
D G R Evans, C Watson, A King, A J Wallace, M E Baser

Journal of Medical Genetics Jan 2005, 42 (1) 45-48; DOI: 10.1136/jmg.2004.023705
Wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease
Luk W Ho, Rosemary Brown, Michelle Maxwell, Andreas Wyttenbach, David C Rubinsztein

Journal of Medical Genetics Jul 2001, 38 (7) 450-452; DOI: 10.1136/jmg.38.7.450
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
A Moyhuddin, M E Baser, C Watson, S Purcell, R T Ramsden, A Heiberg, A J Wallace, D G R Evans

Journal of Medical Genetics Jun 2003, 40 (6) 459-463; DOI: 10.1136/jmg.40.6.459
Association of polymorphisms and allelic combinations in the tumour necrosis factor-α-complement MHC region with coronary artery disease
C Szalai, G Füst, J Duba, J Kramer, L Romics, Z Prohászka, A Császár

Journal of Medical Genetics Jan 2002, 39 (1) 46-51; DOI: 10.1136/jmg.39.1.46
Is the locus for Costello syndrome on 11p?
B Kerr, M L Mucchielli, S Sigaudy, M Fabre, P Saunier, M A Voelckel, E Howard, R Elles, T O B Eden, G C Black, N Philip

Journal of Medical Genetics Jun 2003, 40 (6) 469-471; DOI: 10.1136/jmg.40.6.469
Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon
Michael C Frühwald, M Sue O'Dorisio, Laura J Rush, Jill L Reiter, Dominic J Smiraglia, Gail Wenger, Joseph F Costello, Peter S White, Ralf Krahe, Garrett M Brodeur, Christoph Plass

Journal of Medical Genetics Jul 2000, 37 (7) 501-509; DOI: 10.1136/jmg.37.7.501
CBP truncating mutations in ovarian cancer
R Ward, M Johnson, V Shridhar, J van Deursen, F J Couch

Journal of Medical Genetics Jun 2005, 42 (6) 514-518; DOI: 10.1136/jmg.2004.025080
Analysis of germline CDKN1C (p57^KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
Wayne W K Lam, Izuho Hatada, Sachiko Ohishi, Tsunehiro Mukai, Johanna A Joyce, Trevor R P Cole, Dian Donnai, Wolf Reik, Paul N Schofield, Eamonn R Maher

Journal of Medical Genetics Jul 1999, 36 (7) 518-523; DOI: 10.1136/jmg.36.7.518

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