Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

被引：0

作者：

Mine Arslan-Kirchner

Eloisa Arbustini

Catherine Boileau

Anne Child

Gwenaelle Collod-Beroud

Anne De Paepe

Jörg Epplen

Guillaume Jondeau

Bart Loeys

Laurence Faivre

机构：

[1] Institute of Human Genetics,Département de Génétique

[2] Hannover Medical School,Department of Human Genetics

[3] Laboratorio di Diagnostica Molecolare,undefined

[4] Patologia Cardiovascolare e dei Trapianti,undefined

[5] Centro Malattie Genetiche Cardiovascolari,undefined

[6] Policlinico San Matteo,undefined

[7] Institut de Recherche Necker Enfants Malades,undefined

[8] Hopital Necker – Enfants Malades,undefined

[9] Sonalee Laboratory,undefined

[10] Cardiac and Vascular Sciences,undefined

[11] St George's University of London,undefined

[12] Laboratoire de Génétique Moléculaire,undefined

[13] CHU de Montpellier,undefined

[14] Institut Universitaire de Recherche Clinique,undefined

[15] Center for Medical Genetics,undefined

[16] Ghent University Hospital,undefined

[17] Ruhr University Bochum,undefined

[18] Service de Cardiologie,undefined

[19] CHU Hôpital Xavier Bichat – Claude Bernard,undefined

[20] Centre de Génétique,undefined

[21] Centre Hospitalier Universitaire de Dijon,undefined

来源：

European Journal of Human Genetics | 2010年 / 18卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：1071 / 1071

共 50 条

[21] FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies
Madar, L.
Szakszon, K.
Pfliegler, G.
Szabo, G. P.
Brugos, B.
Ronen, N.
Papp, J.
Zahuczky, K.
Szakos, E.
Fekete, G.
Olah, E.
Koczok, K.
Balogh, I.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1286 - 1287
[22] FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies
Madar, Laszlo
Szakszon, Katalin
Pfliegler, Gyorgy
Szabo, Gabriella P.
Brugos, Boglarka
Ronen, Natali
Papp, Judit
Zahuczky, Katalin
Szakos, Erzsebet
Fekete, Gyorgy
Olah, Eva
Koczok, Katalin
Balogh, Istvan
JOURNAL OF BIOTECHNOLOGY, 2019, 301 : 105 - 111
[23] Marfan syndrome with a homozygous FBN1 splicing mutation
Lu, Xin-Xin
Xie, Qi
Wang, Ren
Zhang, Biao
Guo, Dan-Dan
Huang, Xiao-Li
Chen, Xi-Jun
Wu, Yan-An
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (09) : 2435 - 2438
[24] The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele
Aubart, Melodie
Gross, Marie-Sylvie
Hanna, Nadine
Zabot, Marie-Therese
Sznajder, Marc
Detaint, Delphine
Gouya, Laurent
Jondeau, Guillaume
Boileau, Catherine
Stheneur, Chantal
HUMAN MOLECULAR GENETICS, 2015, 24 (10) : 2764 - 2770
[25] Exon deletions in FBN1 resulting in Marfan syndrome
Gusina, A.
Miasnikov, S.
Gusina, N.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 914 - 915
[26] FBN1 mutation affects survival in Marfan syndrome
Gregory B. Lim
Nature Reviews Cardiology, 2016, 13 (3) : 123 - 123
[27] Characterization of microsatellite markers flanking FBN1:: Utility in the diagnostic evaluation for Marfan syndrome
Judge, DP
Biery, NJ
Dietz, HC
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 99 (01): : 39 - 47
[28] Ectopia lentis phenotypes and the FBN1 gene
Adès, LC
Holman, KJ
Brett, MS
Edwards, MJ
Bennetts, B
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 126A (03) : 284 - 289
[29] Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome
Yang, Hang
Luo, Mingyao
Chen, Qianlong
Fu, Yuanyuan
Zhang, Jing
Qian, Xiangyang
Sun, Xiaogang
Fan, Yuxin
Zhou, Zhou
Chang, Qian
CLINICA CHIMICA ACTA, 2016, 459 : 30 - 35
[30] Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
Colovati, Mileny E. S.
da Silva, Luciana R. J.
Takeno, Sylvia S.
Mancini, Tatiane I.
Dutra, Ana R. N.
Guilherme, Roberta S.
de Mello, Claudia B.
Melaragno, Maria I.
Perez, Ana B. A.
MOLECULAR CYTOGENETICS, 2012, 5

← 1 2 3 4 5 →