Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: An international study of 1009 probands

Journal of Medical Genetics

Volumn 45, Issue 6, 2008, Pages 384-390

  Faivre, L ^a,s   Collod Beroud, G ^b,c   Child, A ^d   Callewaert, B ^e   Loeys, B L ^e,f   Binquet, C ^a,b   Gautier, E ^a,b   Arbustini, E ^g   Mayer, K ^h   Arslan Kirchner, M ⁱ   Stheneur, C ^j   Kiotsekoglou, A ^d   Comeglio, P ^d   Marziliano, N ^g   Halliday, D ^k   Beroud, C ^b,c,l   Bonithon Kopp, C ^a,b   Claustres, M ^b,c,l   Plauchu, H ^m   Robinson, P N ⁿ   Ades L ^o,p   De Backer, J ^e   Coucke, P ^e   Francke, U ^q   De Paepe, A ^e   Boileau, C ^j   Jondeau, G ^r   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIV MONTPELLIER   (France)

^d ST GEORGE S HOSPITAL   (United Kingdom)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^h Center for Human Genetics and Laboratory Medicine   (Germany)

ⁱ HANNOVER MEDICAL SCHOOL   (Germany)

^j HÔPITAL AMBROISE PARÉ   (France)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l HÔPITAL ARNAUD DE VILLENEUVE   (France)

^m HÔTEL DIEU   (France)

ⁿ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^o CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^p UNIVERSITY OF SYDNEY   (Australia)

^q STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^r BICHAT HOSPITAL   (France)

^s Medical University of Dijon   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AORTA DISSECTION; ARTICLE; CARDIOVASCULAR RISK; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AORTA; CHILD; FEMALE; HUMANS; INTERNATIONAL COOPERATION; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION;

EID: 45249093677     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.056382     Document Type: Article

References (25)

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