Literature DB >> 15121784

FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.

P A Gupta, D D Wallis, T O Chin, H Northrup, V T Tran-Fadulu, J A Towbin, D M Milewicz.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15121784      PMCID： PMC1735765          DOI： 10.1136/jmg.2003.012880

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  13 in total

1.  The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.

Authors:  Linjun Chen; Zhenyu Diao; Zhipeng Xu; Jianjun Zhou; Wanjun Wang; Jie Li; Guijun Yan; Haixiang Sun
Journal:  J Assist Reprod Genet       Date:  2016-07-09       Impact factor: 3.412

Review 2.  Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.

Authors:  Vivek B Kalra; John W Gilbert; Ajay Malhotra
Journal:  Pediatr Radiol       Date:  2011-07-23

3.  Elastic fibres are broadly distributed in tendon and highly localized around tenocytes.

Authors:  Tyler M Grant; Mark S Thompson; Jill Urban; Jing Yu
Journal:  J Anat       Date:  2013-04-15       Impact factor: 2.610

Review 4.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

Review 5.  Multimodality imaging assessment of bicuspid aortic valve disease, thoracic aortic ectasia, and thoracic aortic aneurysmal disease.

Authors:  Preethi Mani; Reza Reyaldeen; Bo Xu
Journal:  Cardiovasc Diagn Ther       Date:  2021-06

6.  A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Authors:  Whitney L Wooderchak-Donahue; Brendan O'Fallon; Larissa V Furtado; Jacob D Durtschi; Parker Plant; Perry G Ridge; Alan F Rope; Angela T Yetman; Pinar Bayrak-Toydemir
Journal:  BMC Med Genomics       Date:  2012-11-14       Impact factor: 3.063

7.  A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

Authors:  Wei Liu; Ning Zhao; Xue-Fu Li; Hong Wang; Yu Sui; Yong-Ping Lu; Wen-Hua Feng; Chao Ma; Wei-Tian Han; Miao Jiang
Journal:  FEBS Open Bio       Date:  2015-03-05       Impact factor: 2.693

8.  Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.

Authors:  Dirk Hubmacher; Michael Schneider; Steven J Berardinelli; Hideyuki Takeuchi; Belinda Willard; Dieter P Reinhardt; Robert S Haltiwanger; Suneel S Apte
Journal:  Sci Rep       Date:  2017-02-08       Impact factor: 4.379

9.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Authors:  François-Olivier Desmet; Dalil Hamroun; Marine Lalande; Gwenaëlle Collod-Béroud; Mireille Claustres; Christophe Béroud
Journal:  Nucleic Acids Res       Date:  2009-04-01       Impact factor: 16.971

Review 10.  The Molecular Genetics of Marfan Syndrome.

Authors:  Qiu Du; Dingding Zhang; Yue Zhuang; Qiongrong Xia; Taishen Wen; Haiping Jia
Journal:  Int J Med Sci       Date:  2021-05-27       Impact factor: 3.738
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.