Epidemiology

Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants
Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Jonathan Tyrer, Patricia Harrington, Douglas F Easton, Ian J Jacobs, Paul P D Pharoah, Antonis C Antoniou

Journal of Medical Genetics Feb 2014, 51 (2) 108-113; DOI: 10.1136/jmedgenet-2013-102015
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
L Kluwe, V Mautner, B Heinrich, R Dezube, L B Jacoby, R E Friedrich, M MacCollin

Journal of Medical Genetics Feb 2003, 40 (2) 109-114; DOI: 10.1136/jmg.40.2.109
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I Longo, S G M Frints, J-P Fryns, I Meloni, C Pescucci, F Ariani, M Borghgraef, M Raynaud, P Marynen, C Schwartz, A Renieri, G Froyen

Journal of Medical Genetics Jan 2003, 40 (1) 11-17; DOI: 10.1136/jmg.40.1.11
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
A-M Lossi, F Laugier-Anfossi, D Depetris, J Gecz, A Gedeon, F Kooy, C Schwartz, M-G Mattei, M-F Croquette, L Villard

Journal of Medical Genetics Feb 2002, 39 (2) 113-117; DOI: 10.1136/jmg.39.2.113
A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening
Bernard Bonaïti, Flora Alarcon, Nadine Andrieu, Valérie Bonadona, Marie-Gabrielle Dondon, Sophie Pennec, Dominique Stoppa-Lyonnet, Catherine Bonaïti-Pellié, Hervé Perdry

Journal of Medical Genetics Feb 2014, 51 (2) 114-121; DOI: 10.1136/jmedgenet-2013-101674
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
A common variant in the adiponutrin gene influences liver enzyme values
Barbara Kollerits, Stefan Coassin, Stefan Kiechl, Steven C Hunt, Bernhard Paulweber, Johann Willeit, Anita Brandstätter, Claudia Lamina, Ted D Adams, Florian Kronenberg

Journal of Medical Genetics Feb 2010, 47 (2) 116-119; DOI: 10.1136/jmg.2009.066597
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, Benno Röthlisberger, Peter Weber, Andreas R Huber, Tsutomu Nishizawa, Alexandre N Datta, Peter Miny, Toshiyuki Yamamoto

Journal of Medical Genetics Feb 2011, 48 (2) 117-122; DOI: 10.1136/jmg.2010.084582
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
Majlinda Lako, Simon Ramsden, R Duncan Campbell, Tom Strachan

Journal of Medical Genetics Feb 1999, 36 (2) 119-124; DOI: 10.1136/jmg.36.2.119
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, A David, T Frebourg, J M Rival

Journal of Medical Genetics Feb 2005, 42 (2) 121-128; DOI: 10.1136/jmg.2004.025478

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