Connective tissue disease

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice
D J Halliday, S Hutchinson, L Lonie, J A Hurst, H Firth, P A Handford, P Wordsworth

Journal of Medical Genetics Aug 2002, 39 (8) 589-593; DOI: 10.1136/jmg.39.8.589
Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew, Monica R McClain, Sarah Fratta, Anna-Susan Marais, Susan Hariri, Paul J Coucke, Michele Ramsay, Denis Viljoen, Patrick F Terry, Anne De Paepe, Jouni Uitto, Lionel G Bercovitch

Journal of Medical Genetics Oct 2007, 44 (10) 621-628; DOI: 10.1136/jmg.2007.051094
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, Eissa Faqeih, Nadia Alhashmi, Noon Mousa, Aisha Alsinani, Shinu Ansari, Fatema Alzahrani, Mohammed Al-Owain, Zayed S Alzayed, Fowzan S Alkuraya

Journal of Medical Genetics Oct 2012, 49 (10) 630-635; DOI: 10.1136/jmedgenet-2012-101142
Evidence based medicine in practice: lessons from a Scottish clinical genetics project
Harry Campbell, Nicola Bradshaw, Rosemary Davidson, John Dean, David Goudie, Susan Holloway, Mary Porteous

Journal of Medical Genetics Sep 2000, 37 (9) 684-691; DOI: 10.1136/jmg.37.9.684
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis
W A Cabral, S Milgrom, A D Letocha, E Moriarty, J C Marini

Journal of Medical Genetics Aug 2006, 43 (8) 685-690; DOI: 10.1136/jmg.2005.040493
Juvenile myelomonocytic leukaemia and Noonan syndrome
Marion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine Paillard, Corinne Alberti, Martin Zenker, Christine Chomienne, Yves Bertrand, André Baruchel, Alain Verloes, Hélène Cavé

Journal of Medical Genetics Oct 2014, 51 (10) 689-697; DOI: 10.1136/jmedgenet-2014-102611
Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population
Zheng Zhang, Yilin Cheng, Xueya Zhou, Yang Li, Jinping Gao, Jianwen Han, Cheng Quan, Sumin He, Yongmei Lv, Dayan Hu, Kunju Zhu, Liangdan Sun, Sen Yang, Xuejun Zhang

Journal of Medical Genetics Jan 2011, 48 (1) 69-72; DOI: 10.1136/jmg.2010.077859
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
A L Evans, R Bell, G Brice, P Comeglio, C Lipede, S Jeffery, P Mortimer, M Sarfarazi, A H Child

Journal of Medical Genetics Sep 2003, 40 (9) 697-703; DOI: 10.1136/jmg.40.9.697
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, M C Digilio, N Grifone, C Tandoi, V M Fazio, V Di Ciommo, B Marino, A Pizzuti, B Dallapiccola

Journal of Medical Genetics Sep 2003, 40 (9) 704-708; DOI: 10.1136/jmg.40.9.704
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course
S Schön, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, C Götting

Journal of Medical Genetics Sep 2006, 43 (9) 745-749; DOI: 10.1136/jmg.2006.040972

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