Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Genetics in Medicine

Volumn 9, Issue 1, 2007, Pages 14-22

  Lesca, Gaëtan ^a   Olivieri, Carla ^b   Burnichon, Nelly ^c   Pagella, Fabio ^d   Carette, Marie France ^e   Gilbert Dussardier, Brigitte ^f   Goizet, Cyril ^g   Roume, Joelle ^h   Rabilloud, Muriel ⁱ   Saurin, Jean Christophe ^j   Cottin, Vincent ^k   Honnorat, Jerome ^l   Coulet, Florence ^m   Giraud, Sophie ^a   Calender, Alain ^a   Danesino, Cesare ^b   Buscarini, Elisabetta ⁿ   Plauchu, Henri ^c  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b UNIVERSITY OF PAVIA   (Italy)

^c HÔTEL DIEU   (France)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e HÔPITAL TENON   (France)

^f University of Poitiers   (France)

^g HÔPITAL PELLEGRIN   (France)

^h CHU Ambroise Pare   (France)

ⁱ Service de Biostatistique   (France)

^j CENTRE HOSPITALIER LYON SUD   (France)

^k LOUIS PRADEL HOSPITAL   (France)

^l HÔPITAL NEUROLOGIQUE   (France)

^m PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁿ MAGGIORE HOSPITAL   (Italy)

more..

Author keywords

ACVRL1; Arteriovenous malformation; ENG; Genotype phenotype correlation; Hereditary hemorrhagic telangiectasia

Indexed keywords

ADULT; ARTICLE; BRAIN ABSCESS; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION ANALYSIS; EPISTAXIS; GASTROINTESTINAL HEMORRHAGE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; RENDU OSLER WEBER DISEASE;

ACTIVIN RECEPTORS, TYPE II; ADULT; ANTIGENS, CD; ARTERIOVENOUS MALFORMATIONS; BRAIN DISEASES; DNA MUTATIONAL ANALYSIS; EPISTAXIS; FEMALE; GENOTYPE; HUMANS; LIVER DISEASES; LUNG DISEASES; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROBABILITY; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 33846208639     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31802d8373     Document Type: Article

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