Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia

Genetics in Medicine

Volumn 8, Issue 3, 2006, Pages 183-190

  Olivieri, Carla ^a   Lanzarini, Lucav ^b   Pagella, Fabio ^a   Semino, Lucia ^a   Corno, Sabrina ^a   Valacca, Cristina ^a   Plauchu, Henry ^c,d   Lesca, Gaetan ^c   Barthelet, Martine ^e   Buscarini, Elisabetta ^f   Danesino, Cesare ^a,b,g  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c UNIVERSITÉ LYON 1   (France)

^d HHT French Italian Network   (France)

^e LOUIS PRADEL HOSPITAL   (France)

^f MAGGIORE HOSPITAL   (Italy)

^g Genetica Medica   (Italy)

Author keywords

ACVRL1 gene; ACVRL1 mutations; Doppler transthoracic echocardiography; Hereditary hemorrhagic telangiectasia; Pulmonary artery systolic pressure

Indexed keywords

ACVRL1 GENE; ADULT; AGED; ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; DOPPLER ECHOCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; IDIOPATHIC DISEASE; LUNG ARTERY PRESSURE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MORBIDITY; MORTALITY; NONSENSE MUTATION; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE; SYSTOLIC BLOOD PRESSURE; TRANSTHORACIC ECHOCARDIOGRAPHY; BLOOD PRESSURE; COMPARATIVE STUDY; ECHOGRAPHY; GENETICS; MASS SCREENING; METHODOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PULMONARY ARTERY;

ACTIVIN RECEPTOR 1; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN;

ACTIVIN RECEPTORS, TYPE I; ACTIVIN RECEPTORS, TYPE II; ADULT; AGED; AGED, 80 AND OVER; BLOOD PRESSURE; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY, DOPPLER; FEMALE; HUMANS; MALE; MASS SCREENING; MIDDLE AGED; PULMONARY ARTERY; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 33645802586     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000204463.77319.1c     Document Type: Article

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