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

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1632-1641

  Revencu, Nicole ^a,b   Boon, Laurence M ^a,b   Mendola, Antonella ^a   Cordisco, Maria Rosa ^c   Dubois, Josée ^d   Clapuyt, Philippe ^b   Hammer, Frank ^b   Amor, David J ^e   Irvine, Alan D ^f   Baselga, Eulalia ^g   Dompmartin, Anne ^h   Syed, Samira ⁱ   Martin Santiago, Ana ^j   Ades, Lesley ^k   Collins, Felicity ^k   Smith, Janine ^k   Sandaradura, Sarah ^k   Barrio, Victoria R ^l   Burrows, Patricia E ^m   Blei, Francine ^m   Cozzolino, Mariarosaria ⁿ   Brunetti Pierri, Nicola ⁿ   Vicente, Asuncion ^o   Abramowicz, Marc ^p   Désir, Julie ^p   Vilain, Catheline ^p   Chung, Wendy K ^q   Wilson, Ashley ^r   Gardiner, Carol A ^s   Dwight, Yim ^t   Lord, David J E ^k   Fishman, Leona ^u   Cytrynbaum, Cheryl ^u   Chamlin, Sarah ^v   Ghali, Fred ^w   Gilaberte, Yolanda ^x   Joss, Shelagh ^y   Boente, Maria del C ^z   Léauté Labrèze, Christine ^aa   Delrue, Marie Ange ^aa   Bayliss, Susan ^ab   Martorell, Loreto ^o   González Enseñat, Maria Antonia ^o   Mazereeuw Hautier, Juliette ^ac   O'Donnell, Brid ^ad   Bessis, Didier ^ae   Pyeritz, Reed E ^af   Salhi, Aicha ^ag   Tan, Oon T ^ah   Wargon, Orli ^ai   Mulliken, John B ^aj   Vikkula, Miikka ^a,b   more..

^a DE DUVE INSTITUTE   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d UNIVERSITY OF MONTREAL   (Canada)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^g HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^h CAEN UNIVERSITY HOSPITAL   (France)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^k CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^l RADY CHILDREN'S HOSPITAL   (United States)

^m ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

ⁿ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^o HOSPITAL SANT JOAN DE DÉU   (Spain)

^p ERASME HOSPITAL   (Belgium)

^q Howard Hughes Medical Institute   (United States)

^r NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^s NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^t KAISER PERMANENTE   (United States)

^u HOSPITAL FOR SICK CHILDREN   (Canada)

^v CHILDREN'S MEMORIAL HOSPITAL   (United States)

^w Pediatric Dermatology of North Texas   (United States)

^x HOSPITAL SAN JORGE   (Spain)

^y SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^z Hospital del Nino Jesus Argentina   (Argentina)

^aa BORDEAUX UNIVERSITY HOSPITAL   (France)

^ab ST LOUIS CHILDREN S HOSPITAL   (United States)

^ac SERVICE DE PNEUMOLOGIE   (France)

^ad CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^ae HÔPITAL SAINT ELOI   (France)

^af UNIVERSITY OF PENNSYLVANIA   (United States)

^ag Hospital Dr MaoucheMA   (Algeria)

^ah HARVARD MEDICAL SCHOOL   (United States)

^ai UNIVERSITY OF NEW SOUTH WALES   (Australia)

^aj BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

Arteriovenous malformation; Capillary malformation; RASA1; Sturge Weber syndrome

Indexed keywords

COMPLEMENTARY DNA; PROTEIN; RASA1 PROTEIN; UNCLASSIFIED DRUG;

ANGIOOSTEOHYPERTROPHY SYNDROME; ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN ARTERY ANEURYSM; CAPILLARY MALFORMATION ARTERIOVENOUS MALFORMATION; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; FEMALE; FETUS HYDROPS; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RADIODIAGNOSIS; RETROSPECTIVE STUDY; STURGE WEBER SYNDROME; VEIN OF GALEN MALFORMATION; WILD TYPE;

PIERIS RAPAE;

ARTERIOVENOUS MALFORMATION; CAPILLARY MALFORMATION; RASA1; STURGE-WEBER SYNDROME;

AMINO ACID SUBSTITUTION; ARTERIOVENOUS MALFORMATIONS; CAPILLARIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; P120 GTPASE ACTIVATING PROTEIN; PHENOTYPE; PORT-WINE STAIN; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES;

EID: 84887617105     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22431     Document Type: Article

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