Results 151 to 160 of about 19,355 (211)

Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis. [PDF]

Invest Ophthalmol Vis Sci
Huo QY, Zhang RZ, Jia WN, Wang YL, Shen X, Chen XY, Chen TH, Liu Y, Song LH, Wang X, Lv Y, Chen ZX, Jiang YX.   +12 more
europepmc   +1 more source

Abnormal Extracellular Matrix Protein Transport Associated With Increased Apoptosis of Vascular Smooth Muscle Cells in Marfan Syndrome and Bicuspid Aortic Valve Thoracic Aortic Aneurysm [PDF]

, 2003
Maria Nataatmadja, Malcolm West, Jenny West, Kim Summers, Philip Walker, Michio Nagata, Teruo Watanabe   +6 more
openalex   +1 more source

A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum. [PDF]

Cureus
Hegazy Y, Abdallah A, Salem A, Assaker A, Elmogy A.   +4 more
europepmc   +1 more source

The Reclassification of a <i>FBN1</i> Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation. [PDF]

Case Rep Med
Bouhamdani D, Allain V, Bouhamdani N, Ben Amor M.   +3 more
europepmc   +1 more source

A case of Marfan syndrome with recurrent bilateral pneumothorax.

, 2001
Yoshitaka Ito, Makoto Oda, Yasuhiko Ota, Tetsuhiko Go, Yoshio Tsunezuka, Go Watanabe   +5 more
openalex   +2 more sources

Identification and functional validation of a novel FBN1 variant in a Marfan syndrome family using a zebrafish model. [PDF]

BMC Genomics
Huang S, Chen J, Wang Q, Zhang R, Zhuang J, Huang R, Yu C, Fang M, Zhao H, Lei L.   +9 more
europepmc   +1 more source

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

, 2001
Paolo Comeglio, Alison Evans, Glen Brice, Anne H. Child   +3 more
openalex   +1 more source

Functional analysis of a novel <i>FBN1</i> deep intronic variant causing Marfan syndrome in a Chinese patient. [PDF]

Front Genet
Wang Q, Zhang F, Zhou X, Li H, Zhao J, Yuan H.   +5 more
europepmc   +1 more source

Marfan syndrome: The diagnostic value of cardiac signs in a genotyped population Ioana Chiorescu, Catherine Boileau, Alain Beauchet, Gabriel Delorme, Catherine Guiti, Christine Muti, Olivier Dubourg, Guillaume Jondeau. H�pital Ambroise Par�, Cardiology, Boulogne, France

, 2001

openalex   +1 more source

Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts. [PDF]

Sci Rep
Choi K, Huang M, Savige J.
europepmc   +1 more source