Results 141 to 150 of about 9,183 (184)

Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study. [PDF]

Hum Mutat
Yang F, Yang T, Xie X, Yang Q, Wang F.
europepmc   +1 more source

Discovering paracrine regulators of cell type composition from spatial transcriptomics using SPER. [PDF]

Bioinform Adv
Zhao T, Haber AL.
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Construction of a HSC activation-related lncRNA-miRNA-mRNA ceRNA regulatory network reveals potential molecules involved in liver fibrosis. [PDF]

Front Genet
Wan K, Zhou Q, Feng R, Liu T, Fan C, Pang X, Li Z, Zhou Q.   +7 more
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Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management. [PDF]

Cureus
Bahir AW, Bahir MA, Bahir Q, Shao G, Ying X.   +4 more
europepmc   +1 more source

Cell type–resolved transcriptomic map of skeletal muscle in women with polycystic ovary syndrome

Stener-Victorin E, Sparovec TG, Eriksson G, Schutten R, Li C, Lu H, Rosa J, Dahmani S, Torstensson S, Ohlsson C, Lindgren E, Damdimopoulou P, Hirschberg AL, Deng Q, Lindskog C.   +14 more
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Ectopia lentis phenotypes and the FBN1 gene

American Journal of Medical Genetics Part A, 2003
AbstractMutations of the fibrillin‐1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the “MASS” phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373–2378], familial ...
Lesley C, Adès, Katherine J, Holman, Maggie S, Brett, Matthew J, Edwards, Bruce, Bennetts   +4 more
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The FBN1 (R2726W) mutation is not fully penetrant

Annals of Human Genetics, 2004
SummaryThe R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18‐year‐old son and his mother, a 41‐year‐old woman, had the R2726W mutation of FBN1.
S, Buoni, R, Zannolli, F, Macucci, S, Ansaldi, M, Grasso, E, Arbustini, A, Fois   +6 more
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FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

Clinical Genetics, 2008
Fibrillin‐1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission. Major clinical manifestations affect cardiovascular and skeletal apparatuses and ocular and central nervous systems.
ATTANASIO, MONICA, I. Lapini, EVANGELISTI, LUCIA, LUCARINI, LAURA, GIUSTI, BETTI, PORCIANI, MARIA CRISTINA, R. Fattori, C. Anichini, ABBATE, ROSANNA, GENSINI, GIAN FRANCO, PEPE, GUGLIELMINA   +10 more
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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
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