Art

J-GLOBAL ID：200902202277631591   Reference number：07A0962200

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Marfan症候群又は関連表現型とFBN1突然変異初回被患者1013名の臨床転帰に及ぼす突然変異型と位置の効果:国際的研究

Author (40)： FAIVRE L. (Centre Hospitalier Universitaire (CHU)) ,  FAIVRE L. (Centre d’Investigation Clinique-Epidemiologie Clinique/Essais Cliniques) ,  COLLOD-BEROUD G. (INSERM U827) ,  COLLOD-BEROUD G. (Univ. Montpellier I) ,  LOEYS B. L. (Ghent Univ. Hospital, Ghent, BEL) ,  LOEYS B. L. (Johns Hopkins Univ. School of Medicine, Baltimore) ,  CHILD A. (St. George’s Hospital, London) ,  BINQUET C. (Centre d’Investigation Clinique-Epidemiologie Clinique/Essais Cliniques) ,  BINQUET C. (INSERM CIE1, Dijon, FRA) ,  GAUTIER E. (Centre d’Investigation Clinique-Epidemiologie Clinique/Essais Cliniques) ,  GAUTIER E. (INSERM CIE1, Dijon, FRA) ,  CALLEWAERT B. (Ghent Univ. Hospital, Ghent, BEL) ,  ARBUSTINI E. (Foundation IRCCS Policlinico San Matteo, Pavia, ITA) ,  MAYER K. (Center for Human Genetics and Lab. Medicine, Martinsried, DEU) ,  ARSLAN-KIRCHNER M. (Hannover Medical School, Hannover) ,  KIOTSEKOGLOU A. (St. George’s Hospital, London) ,  COMEGLIO P. (St. George’s Hospital, London) ,  MARZILIANO N. (Foundation IRCCS Policlinico San Matteo, Pavia, ITA) ,  DIETZ H. C. (Johns Hopkins Univ. School of Medicine, Baltimore) ,  HALLIDAY D. (Univ. Oxford, Oxford, GBR) ,  BEROUD C. (INSERM U827) ,  BEROUD C. (Univ. Montpellier I) ,  BEROUD C. (CHU Montpellier, Montpellier, FRA) ,  BONITHON-KOPP C. (Centre d’Investigation Clinique-Epidemiologie Clinique/Essais Cliniques) ,  BONITHON-KOPP C. (INSERM CIE1, Dijon, FRA) ,  CLAUSTRES M. (INSERM U827) ,  CLAUSTRES M. (Univ. Montpellier I) ,  CLAUSTRES M. (CHU Montpellier, Montpellier, FRA) ,  MUTI C. (Univ. Versailles-Saint Quentin en Yvelines, Boulogne, FRA) ,  PLAUCHU H. (Hotel Dieu, Lyon) ,  ROBINSON P. N. (Universitaetsmedizin Charite, Berlin) ,  ADES L. C. (Children’s Hospital at Westmead, Sydney, AUS) ,  BIGGIN A. (Children’s Hospital at Westmead, Sydney, AUS) ,  BENETTS B. (Children’s Hospital at Westmead, Sydney, AUS) ,  BRETT M. (Children’s Hospital at Westmead, Sydney, AUS) ,  HOLMAN K. J. (Children’s Hospital at Westmead, Sydney, AUS) ,  DE BACKER J. (Ghent Univ. Hospital, Ghent, BEL) ,  COUCKE P. (Ghent Univ. Hospital, Ghent, BEL) ,  FRANCKE U. (Stanford Univ. Medical Center, Stanford) ,  DE PAEPE A. (Ghent Univ. Hospital, Ghent, BEL)
Material： American Journal of Human Genetics  (AJHG)
Volume： 81  Issue： 3  Page： 454-466  Publication year： Sep. 2007 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (6)： Marfan症候群 ,  表現型 ,  突然変異 ,  患者 ,  臨床転帰 ,  研究