Results 101 to 110 of about 10,344 (220)

A Genotype-Phenotype Comparison of ADAMTSL4 and FBN1 in Isolated Ectopia Lentis

, 2012
PURPOSE. To describe the genotype-phenotype relationship of a cohort of consecutive patients with isolated ectopia lentis (EL) secondary to ADAMTSL4 and FBN1 mutations.METHODS. Patients underwent detailed ocular, cardiovascular, and skeletal examination.
Aragon-Martin, Jose A., Gati, S, Child, AH, Aragon-Martin, JA, Cormack, Graham, Arno, Gavin, Charteris, David G., Charteris, DG, Child, Anne H., Cormack, G, Hughes, Kathryn, Chandra, Aman, Chandra, A, Gati, Sabiha, Reddy, M. Ashwin, Deshpande, Charu, Hughes, K, Reddy, MA, Deshpande, C, Arno, G   +19 more
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Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

BMC Medical Genetics, 2011
Background Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifestations ...
Lewis Tracey, Yetman Angela T, Rope Alan F, Wooderchak-Donahue Whitney, Furtado Larissa V, Plant Parker, Bayrak-Toydemir Pinar   +6 more
doaj   +1 more source

Association of polymorphisms in FBN1, MYH11, and TGF-β signaling-related genes with susceptibility of sporadic thoracic aortic aneurysm and dissection in the Zhejiang Han population

Open Medicine
Sporadic thoracic aortic aneurysm and dissection (sTAAD) is a complicated vascular disease with a high mortality rate. And its genetic basis has not been fully explored.
Yu Shasha, Huang Lujie, Ren Jianfei, Zhang Xiaoying   +3 more
doaj   +1 more source

A novel FBN1 mutation causes autosomal dominant Marfan syndrome

Molecular Medicine Reports, 2017
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited.
Xiao, Ying, Liu, Xiaoqi, Guo, Xiaoxin, Liu, Liping, Jiang, Linxin, Wang, Qi, Gong, Bo   +6 more
openaire   +3 more sources

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients

, 2016
Item does not contain fulltextMarfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-
Laer, L. van, Zhurayev, Rustam, Meester, Josephina, Zerbino, Dmytro, Zerbino, D., Proost, Dorien, Fedorenko, Viktor, Loeys, B.L., Meester, J.A., Zhurayev, R., Proost, D., Van Laer, Lut, Fedorenko, V., Loeys, Bart   +13 more
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FBN1 Mutation Screening in a Marfan Syndrome Patient

Medica Hospitalia : Journal of Clinical Medicine, 2017
Background : MFS is characterized by variable clinical manifestations mainly in cardiovascular, ocular, and skeletal systems. The major encoding gene of structural constituent of extracellular microfibrils is Fibrillin-1 (FBN1). Approximately 90% of MFS cases are caused by mutations in the FBN1 gene (15q21.1) and the other second is TGFBR2 (3p22) gene.
Muhammad Sungkar, Sodiqur Rifqi, Gerard Pals, Sultana Faradz, Nani Maharani, Amallia Setyawati   +5 more
openaire   +2 more sources

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

, 2012
Purpose: Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). Methods: It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations
Dong, Jiamei, Li, Yuan, Li, Jianchang, Yuan, Minghui, Wang, Lejin, Zhou, Aimin, Peng, Xiaojuan, Meng, Xiaoli, Du, Wei, Bu, Juan, Jia, Yanlei   +10 more
core  

Correlation between Fbn1 expression and phenotype severity in 129/Sv heterozygotes.

, 2013
(A) Real-time RT-PCR analysis of wild-type (WT – left panel) and mutant (right panel) Fbn1 alleles in heterozygous 129/Sv animals. Individual animals are represented by different colored bars. For each animal three technical replicas were performed. Note
Bruno L. Lima (359298), José A. Visintin (359306), Enrico J. C. Santos (359299), Marco R. B. Mello (359302), Marina Soukoyan (359304), Lygia V. Pereira (247926), Alexandre Kerkis (54156), Gustavo R. Fernandes (359300), Juliana P. A. Gomes (359303), Christian Merkel (359301), Silvia M. G. Massironi (359305)   +10 more
core   +1 more source

314 Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation

, 2010
BackgroundTGFBR2 mutations were recently recognized among patients with a Marfan-like phenotype and have been associated with poor cardiovascular prognosis (early deaths, aortic dissections or early surgery for thoracic ascending aorta aneurysm ...
Boileau, Catherine, Delrue, M.A., Claustres, Mireille, Lyonnet, S., Plauchu, H., Roy, Carine, Jondeau, Guillaume, Attias, David, Collod-Beroud, Gwenaelle, Faivre, L., Vahanian, A., Stheneur, Chantal, Detaint, Delphine   +12 more
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A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

, 2017
Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for
Paldeep Atwal, Ahmed Mohammad
core   +1 more source