Literature DB >> 28596305

Genotype-phenotype correlations in Marfan syndrome.

Benjamin J Landis1, Gruschen R Veldtman2, Stephanie M Ware1.   

Abstract

Entities:  

Keywords:  Aortic aneurysm; Clinical genetics; Marfan and associated disorders

Mesh：

Substances：

Year:  2017        PMID： 28596305     DOI： 10.1136/heartjnl-2017-311513

Source DB:  PubMed          Journal:  Heart        ISSN： 1355-6037            Impact factor:   5.994


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  7 in total

1.  Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome.

Authors:  Yueli Wang; Xiaoyan Li; Rongjuan Li; Ya Yang; Jie Du
Journal:  Int J Genomics       Date:  2018-04-17       Impact factor: 2.326

Review 2.  Disorders of the Aorta and Aortic Valve in Connective Tissue Diseases.

Authors:  Bogna Grygiel-Górniak; Mary-Tiffany Oduah; Abdulbaril Olagunju; Michal Klokner
Journal:  Curr Cardiol Rep       Date:  2020-06-19       Impact factor: 2.931

Review 3.  Therapeutic Genome Editing in Cardiovascular Diseases.

Authors:  David M German; Shoukhrat Mitalipov; Anusha Mishra; Sanjiv Kaul
Journal:  JACC Basic Transl Sci       Date:  2019-02-25

4.  NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Authors:  Davide Gentilini; Antonino Oliveri; Teresa Fazia; Alessandro Pini; Susan Marelli; Luisa Bernardinelli; Anna Maria Di Blasio
Journal:  PLoS One       Date:  2019-09-19       Impact factor: 3.240

5.  Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.

Authors:  Veronika C Stark; Flemming Hensen; Kerstin Kutsche; Fanny Kortüm; Jakob Olfe; Peter Wiegand; Yskert von Kodolitsch; Rainer Kozlik-Feldmann; Götz C Müller; Thomas S Mir
Journal:  Genes (Basel)       Date:  2020-07-15       Impact factor: 4.096

6.  Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Authors:  Roland Stengl; András Bors; Bence Ágg; Miklós Pólos; Gabor Matyas; Mária Judit Molnár; Bálint Fekete; Dóra Csabán; Hajnalka Andrikovics; Béla Merkely; Tamás Radovits; Zoltán Szabolcs; Kálmán Benke
Journal:  Orphanet J Rare Dis       Date:  2020-10-15       Impact factor: 4.123

Review 7.  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
  7 in total

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