scholarly journals The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Víctor Manuel Becerra-Muñoz ◽  
Juan José Gómez-Doblas ◽  
Carlos Porras-Martín ◽  
Miguel Such-Martínez ◽  
María Generosa Crespo-Leiro ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Clinical Management ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

2006 ◽  
Vol 39 (2) ◽  
pp. 171-183 ◽  
Author(s):  
Christian Baumgartner ◽  
Gábor Mátyás ◽  
Beat Steinmann ◽  
Martin Eberle ◽  
Jörg I. Stein ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Gene Mutations ◽  
Phenotype Correlation ◽  
Fbn1 Gene ◽  
Genotype Phenotype Correlation

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

PLoS ONE ◽  
2019 ◽  
Vol 14 (9) ◽  
pp. e0222506 ◽  
Author(s):  
Davide Gentilini ◽  
Antonino Oliveri ◽  
Teresa Fazia ◽  
Alessandro Pini ◽  
Susan Marelli ◽  
...  
Keyword(s):  
Correlation Analysis ◽  
Marfan Syndrome ◽  
Genetic Variants ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Common Genetic Variants

Recondition of a murine model of Marfan syndrome (mgR/mgR): Safe genotype-phenotype correlation

2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
P Seppelt ◽  
S Schwill ◽  
A Weber ◽  
G Guo ◽  
PN Robinson ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Murine Model ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome

2020 ◽  
Vol 182 (6) ◽  
pp. 1329-1335
Author(s):  
Brooke R. Willis ◽  
Mianne Lee ◽  
Kavitha Rethanavelu ◽  
Jasmine L. F. Fung ◽  
Rosanna M. S. Wong ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Fbn1 Mutation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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