Results 191 to 200 of about 9,471 (216)

A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.

, 2011
Shea Ping Yip, Kim Hung Leung, Wai Yan Fung, Po Wah Ng, Pak C. Sham, Maurice Yap   +5 more
openalex   +1 more source

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia. [PDF]

Sci Rep
Morales AA, Camarena V, Peart L, Smithson S, Shaw L, Webber L, Negron JM, Sola JE, Brady AC, Walz K, Wang G, Tekin M.   +11 more
europepmc   +1 more source

Case Report: A <i>FBN1</i> frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome. [PDF]

Front Cardiovasc Med
Su C, Zeng L, Lu H, Wang Z, Wei M.
europepmc   +1 more source

Apoptosis and Brain Dervived Neurotrophic Factor are increased in cortical neurons of Marfan Syndrome mice. [PDF]

MicroPubl Biol
Esfandiarei M, Anwar F, Nuthi M, Harrison A, Barrameda ME, Curry-Koski T, Pull K, Currier Thomas T, Jadavji N.   +8 more
europepmc   +1 more source

A Review on the Role of DNA Methylation in Aortic Disease Associated With Marfan Syndrome. [PDF]

Cardiol Res
Zhang WZ, Wu CY, Lai H.
europepmc   +1 more source

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque. [PDF]

Int J Dermatol
Fernández Martínez M, Rivera Lira FP, Roldán-Marín R, Toussaint-Caire S.   +3 more
europepmc   +1 more source

Anti-Aging Efficacy of Low-Molecular-Weight Polydeoxyribonucleotide Derived from <i>Paeonia lactiflora</i>. [PDF]

Int J Mol Sci
Bak SU, Jung MS, Kim DJ, Jin HU, Lee SY, An CE.   +5 more
europepmc   +1 more source

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Severe Marfan syndrome due to FBN1 exon deletions

American Journal of Medical Genetics Part A, 2008
AbstractMarfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin‐1 gene (FBN1). The majority of these are family‐specific point mutations, with a small number being predicted to cause exon‐skipping.
Blyth, M., Foulds, N., Turner, C., Bunyan, D.   +3 more
openaire   +3 more sources