Results 111 to 120 of about 9,471 (216)
Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome
, 2023 Benjamin M. Helm +5 more
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FBN1 Coding Variants and Nonsyndromic Aortic Disease [PDF]
Circulation: Genomic and Precision Medicine, 2019 Scott M, Damrauer +7 more
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Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification [PDF]
, 2023 Xinxin Lu +7 more
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An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene [PDF]
, 2020 Omid Daneshjoo +4 more
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Familial Spontaneous Pneumothorax and FBN1 Mutations
American Journal of Respiratory and Critical Care Medicine, 2004 Cardy, CM +6 more
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Frontiers in PediatricsBackgroundAcromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia (AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three diseases share severe short stature and brachydactyly.
Fengyan Tian +5 more
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A Marfan-Associated FBN1 Nonsense Mutation Mouse Model Reveals Adventitial Inflammation During Aneurysm Progression [PDF]
Shichao Wu +21 more
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Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the <b><i>FBN1</i></b> Gene, in Health and Disease [PDF]
, 2022 Mehmet Akif Ovalı, İbrahim Bozgeyik
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