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  • Henri Plauchu, Jean-Pierre de Chadarévian, Alain Bideau, J. M. Robert
  • Medicine, Biology
  • American journal of medical genetics
  • 1989 (First Publication: 1 March 1989)
  • We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiologicalExpand
  • Laurence Faivre, Gwenaelle Collod-Béroud, +29 authors Catherine Boileau
  • Medicine, Biology
  • American journal of human genetics
  • 2007 (First Publication: 1 September 2007)
  • Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset andExpand
  • Frédéric Caux, Henri Plauchu, +8 authors Michel Longy
  • Biology, Medicine
  • European Journal of Human Genetics
  • 2007 (First Publication: 1 July 2007)
  • We describe two patients from distinct Cowden disease families with specific germline PTEN mutations whose disease differs from the usual appearance of Cowden disease. Their phenotype associatesExpand
  • Michael Benzinou, Frederic F. Clermont, +18 authors Rosemary J. Akhurst
  • Biology, Medicine
  • Nature communications
  • 2012 (First Publication: 10 January 2012)
  • Hereditary haemorrhagic telangiectasia (HHT) [corrected] is a vascular dysplasia syndrome caused by mutations in transforming growth factor-β/bone morphogenetic protein pathway genes, ENG and ACVRL1.Expand