Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation

被引：0
|
作者：
Attias, D. [1 ]
Stheneur, C. [1 ]
Collod-Beroud, G. [2 ]
Detaint, D. [1 ]
Faivre, L. [3 ]
Delrue, M. A. [4 ]
Plauchu, H. [5 ]
Claustres, M. [2 ]
Boileau, C. [6 ]
Jondeau, G. [1 ]
机构：
[1] Hop Bichat Claude Bernard Consultat Multidiscipli, Paris, France
[2] INSERM, U827, Montpellier, France
[3] CHU Dijon, Ctr Genet, Dijon, France
[4] CHU Bordeaux, Serv Genet Med, Bordeaux, France
[5] Hop Hotel Dieu, Serv Genet, F-69288 Lyon, France
[6] Hop Ambroise Pare, AP HP, Lab Cent Biochim Hormonol & Genet Mol, Boulogne, France
来源：
EUROPEAN HEART JOURNAL | 2009年 / 30卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：992 / 993
页数：2
相关论文
共 50 条
  • [1] Cardiovascular involment and outcomes of patients with TGFBR2 mutation and comparison with unaffected patients and patients with FBN1 mutation
    Attias, D.
    Delrue, M. A.
    Faivre, L.
    Francannet, C.
    Lemerrer, J.
    Odent, S.
    Plauchu, H.
    Rossi, A.
    Boileau, C.
    Jondeau, G.
    EUROPEAN HEART JOURNAL, 2008, 29 : 825 - 825
  • [2] FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
    Nishimura, Akira
    Sakai, Haruya
    Ikegawa, Shiro
    Kitoh, Hiroshi
    Haga, Nobuyuki
    Ishikiriyama, Satoshi
    Nagai, Toshiro
    Takada, Fumio
    Ohata, Takako
    Tanaka, Fumihiko
    Kamasaki, Hotaka
    Saitsu, Hirotomo
    Mizuguchi, Takeshi
    Matsumoto, Naomichi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (07) : 694 - 698
  • [3] Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects
    Eliana Disabella
    Maurizia Grasso
    Nicola Marziliano
    Silvia Ansaldi
    Claudia Lucchelli
    Emanuele Porcu
    Marilena Tagliani
    Andrea Pilotto
    Marta Diegoli
    Luca Lanzarini
    Clara Malattia
    Antonio Pelliccia
    Anna Ficcadenti
    Orazio Gabrielli
    Eloisa Arbustini
    European Journal of Human Genetics, 2006, 14 : 34 - 38
  • [4] Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects
    Disabella, E
    Grasso, M
    Marziliano, N
    Ansaldi, S
    Lucchelli, C
    Porcu, E
    Tagliani, M
    Pilotto, A
    Diegoli, M
    Lanzarini, L
    Malattia, C
    Pelliccia, A
    Ficcadenti, A
    Gabrielli, O
    Arbustini, E
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (01) : 34 - 38
  • [5] Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders
    Attias, David
    Stheneur, Chantal
    Roy, Carine
    Collod-Beroud, Gwenaelle
    Detaint, Delphine
    Faivre, Laurence
    Delrue, Marie-Ange
    Cohen, Laurence
    Francannet, Christine
    Beroud, Christophe
    Claustres, Mireille
    Iserin, Franck
    Van Kien, Philippe Khau
    Lacombe, Didier
    Le Merrer, Martine
    Lyonnet, Stanislas
    Odent, Sylvie
    Plauchu, Henri
    Rio, Marlene
    Rossi, Annick
    Sidi, Daniel
    Steg, Philippe Gabriel
    Ravaud, Philippe
    Boileau, Catherine
    Jondeau, Guillaume
    CIRCULATION, 2009, 120 (25) : 2541 - 2549
  • [6] Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2
    Sheikhzadeh, S.
    Rybczynski, M.
    Habermann, C. R.
    Bernhardt, A. M. J.
    Arslan-Kirchner, M.
    Keyser, B.
    Kaemmerer, H.
    Mir, T. S.
    Staebler, A.
    Oezdal, N.
    Robinson, P. N.
    Berger, J.
    Meinertz, T.
    von Kodolitsch, Y.
    CLINICAL GENETICS, 2011, 79 (06) : 568 - 574
  • [7] UMD-Predictor, a New Prediction Tool for Nucleotide Substitution Pathogenicity-Application to Four Genes: FBN1, FBN2, TGFBR1, and TGFBR2
    Frederic, Melissa Yana
    Lalande, Marine
    Boileau, Catherine
    Hamroun, Dalil
    Claustres, Mireille
    Beroud, Christophe
    Collod-Beroud, Gwenaelle
    HUMAN MUTATION, 2009, 30 (06) : 952 - 959
  • [8] Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
    Bitarafan, Fatemeh
    Razmara, Ehsan
    Khodaeian, Mehrnoosh
    Keramatipour, Mohammad
    Kalhor, Alireza
    Jafarinia, Ehsan
    Garshasbi, Masoud
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (08):
  • [9] Identification of a novel FBN1 gene mutation in a patient with ectopia lentis
    Szalai, Renata
    Bene, Judit
    Zsigmond, Anna
    Galimurka, Krisztina
    Hadzsiev, Kinga
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 992 - 992
  • [10] Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections
    Cao, Yingxi
    Tan, Hu
    Li, Zhuo
    Linpeng, Siyuan
    Long, Xigui
    Liang, Desheng
    Wu, Lingqian
    INTERNATIONAL HEART JOURNAL, 2018, 59 (05) : 1059 - 1068
12345