Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

By C. Shovlin, A. Guttmacher, E. Buscarini, M. Faughnan, R. Hyland, C. Westermann, A. Kjeldsen, H. Plauchu. American journal of medical genetics, 2000

1,694 citations recorded by the source corpus.

Subfields: Genetics, Marketing, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/f713538c95ad1eee12ed628f636f4c7eccf0cbe2

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In Genetics

1. J. Piccirillo
2. A. Guttmacher

Citations in the corpus

• Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era (2015, background): “…A receptor type II-like 1 (ACVRL1/ALK1, chromosome 12q13), and SMAD4 (chromosome 18q21) mutations cause HHT1 (OMIM 187300), HHT2 (OMIM 600376), and the combined Juvenile Polyposis/HHT (JP/HHT) syndrome (OMIM 175050), respectively (Shovlin et al., 1994; Johnson et al., 1996; Gallione et al., 2004).”
• International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia (2009, background): “The diagnosis of liver VMs may also assist in the clinical diagnosis of HHT, since visceral involvement is one of the clinical diagnostic criteria.(11) Several different imaging modalities have been reported and studied for the screening and diagnosis of liver VMs in HHT.”