Literature DB >> 22942097

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome.

Young-Hwa Song1, Gu-Hwan Kim, Han-Wook Yoo, June-Bum Kim.   

Abstract

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Year:  2012        PMID： 22942097     DOI： 10.1007/s12041-012-0165-3

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  4 in total

Review 1.  Marfan's syndrome.

Authors:  Daniel P Judge; Harry C Dietz
Journal:  Lancet       Date:  2005-12-03       Impact factor: 79.321

2.  Revised diagnostic criteria for the Marfan syndrome.

Authors:  A De Paepe; R B Devereux; H C Dietz; R C Hennekam; R E Pyeritz
Journal:  Am J Med Genet       Date:  1996-04-24

3.  Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Authors:  Eloisa Arbustini; Maurizia Grasso; Silvia Ansaldi; Clara Malattia; Andrea Pilotto; Emanuele Porcu; Eliana Disabella; Nicola Marziliano; Angela Pisani; Luca Lanzarini; Savina Mannarino; Daniela Larizza; Mario Mosconi; Elena Antoniazzi; M Cristina Zoia; Giulia Meloni; Lorenzo Magrassi; Agnese Brega; Maria Francesca Bedeschi; Isabella Torrente; Francesca Mari; Luigi Tavazzi
Journal:  Hum Mutat       Date:  2005-11       Impact factor: 4.878

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

Authors:  L Faivre; G Collod-Beroud; A Child; B Callewaert; B L Loeys; C Binquet; E Gautier; E Arbustini; K Mayer; M Arslan-Kirchner; C Stheneur; A Kiotsekoglou; P Comeglio; N Marziliano; D Halliday; C Beroud; C Bonithon-Kopp; M Claustres; H Plauchu; P N Robinson; L Adès; J De Backer; P Coucke; U Francke; A De Paepe; C Boileau; G Jondeau
Journal:  J Med Genet       Date:  2008-02-29       Impact factor: 6.318
  4 in total
  2 in total

1.  Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.

Authors:  Mao Chen; Bing Yao; Qiangbing Yang; Jichao Deng; Yuning Song; Tingting Sui; Lina Zhou; HaoBing Yao; Yuanyuan Xu; Hongsheng Ouyang; Daxin Pang; Zhanjun Li; Liangxue Lai
Journal:  Dis Model Mech       Date:  2018-04-09       Impact factor: 5.758

2.  Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Authors:  Mao Lin; Zhenlei Liu; Gang Liu; Sen Zhao; Chao Li; Weisheng Chen; Zeynep Coban Akdemir; Jiachen Lin; Xiaofei Song; Shengru Wang; Qiming Xu; Yanxue Zhao; Lianlei Wang; Yuanqiang Zhang; Zihui Yan; Sen Liu; Jiaqi Liu; Yixin Chen; Yuzhi Zuo; Xu Yang; Tianshu Sun; Xin-Zhuang Yang; Yuchen Niu; Xiaoxin Li; Wesley You; Bintao Qiu; Chen Ding; Pengfei Liu; Shuyang Zhang; Claudia M B Carvalho; Jennifer E Posey; Guixing Qiu; James R Lupski; Zhihong Wu; Jianguo Zhang; Nan Wu
Journal:  Mol Genet Genomic Med       Date:  2019-11-27       Impact factor: 2.183
  2 in total

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