RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Autor: Marc Abramowicz, Felicity Collins, Philippe Clapuyt, Christine Léauté-Labrèze, Brid O'Donnell, Julie Désir, Eulalia Baselga, María Antonia González-Enseñat, Antonella Mendola, Nicola Brunetti-Pierri, Yim Dwight, Nicole Revencu, Victoria R. Barrio, David J.E. Lord, Lesley C. Adès, David J. Amor, Mariarosaria Cozzolino, Orli Wargon, Shelagh Joss, Frank Hammer, Susan J. Bayliss, Josée Dubois, Didier Bessis, María del Carmen Boente, Leona Fishman, Wendy K. Chung, Miikka Vikkula, Oon T. Tan, Yolanda Gilaberte, Laurence M. Boon, Cheryl Cytrynbaum, Juliette Mazereeuw-Hautier, Carol A. Gardiner, Patricia E. Burrows, Sarah A. Sandaradura, Fred Ghali, Maria R. Cordisco, Alan D. Irvine, Asunción Vicente, Catheline Vilain, John B. Mulliken, Aicha Salhi, Francine Blei, Loreto Martorell, Anne Dompmartin, Janine Smith, Ashley Wilson, S. Syed, Sarah L. Chamlin, Ana Martín-Santiago, Marie Ange Delrue, Reed E. Pyeritz

Publikováno v: HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14c5b61af53f0bf9a3fc6aa8afac2f2e
https://doi.org/10.1002/humu.22431

Refinement of the Smith–Magenis syndrome critical region to ∼950 kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Autor: Vlangos, Christopher N.¹, Yim, Dwight K.C.², Elsea, Sarah H.^1,3,4 elsea@msu.edu

Publikováno v: Molecular Genetics & Metabolism. Jun2003, Vol. 79 Issue 2, p134. 8p.

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation.

Autor: Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J., Irvine, Alan D., Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin‐Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R., Burrows, Patricia E., Blei, Francine

Publikováno v: Human Mutation; Dec2013, Vol. 34 Issue 12, p1632-1641, 10p