Venous thromboembolism

Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?
J Siegel-Bartlet, A Levin, A S Teebi, S J Kennedy

Journal of Medical Genetics Feb 2002, 39 (2) 145-148; DOI: 10.1136/jmg.39.2.145
Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings
Donatella Colaizzo, Lucio Amitrano, Luigi Iannaccone, Patrizia Vergura, Filomena Cappucci, Elvira Grandone, Maria Anna Guardascione, Maurizio Margaglione

Journal of Medical Genetics Jun 2007, 44 (6) 412-416; DOI: 10.1136/jmg.2006.048371
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
R Koehler, E Grünig, M W Pauciulo, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, S Kreuscher, B Janssen, W C Nichols

Journal of Medical Genetics Dec 2004, 41 (12) e127; DOI: 10.1136/jmg.2004.023101
Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis
J Esparza-Gordillo, J M Soria, A Buil, J C Souto, L Almasy, J Blangero, S R de Córdoba, J Fontcuberta

Journal of Medical Genetics Jan 2004, 41 (1) e5; DOI: 10.1136/jmg.2003.010611

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