Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

(2013) Fransiska Malfait et al.   Orphanet Journal of Rare Diseases

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms

(2012) Frank Thiele et al.   HUMAN MOLECULAR GENETICS

Heart Valve Structure and Function in Development and Disease

(2011) Robert B. Hinton et al.   Annual Review of Physiology

Infective endocarditis

(2011) Yok-Ai Que et al.   Nature Reviews Cardiology

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Cardiovascular abnormalities in adults with osteogenesis imperfecta

(2010) Zoran Radunovic et al.   AMERICAN HEART JOURNAL

Complete COL1A1 allele deletions in osteogenesis imperfecta

(2010) Fleur S van Dijk et al.   GENETICS IN MEDICINE

Valvular Heart Disease in Osteogenesis Imperfecta: Presentation of a Case and Review of the Literature

(2009) Raphael E. Bonita et al.   ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES

Classification of Osteogenesis Imperfecta revisited

(2009) F.S. Van Dijk et al.   European Journal of Medical Genetics

Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

(2009) Donald Basel et al.   GENETICS IN MEDICINE