Results 31 to 40 of about 19,820 (226)
BMC Oral Health, 2019 Background Aim of the study was to evaluate the gelatinolytic activity in the saliva and gingival crevicular fluid from a sample group of subjects with Marfan syndrome. Methods Two groups were analyzed in this case-control study.
Giuseppina Laganà +5 more
doaj +1 more source
Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome
Global Medical Genetics, 2020 Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe +5 more
doaj +1 more source
Clinical Case Reports, 2017 Key Clinical Message We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father.
Yasmin Florence Khodeja Islam +3 more
doaj +1 more source
Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene
, 2016 There have been several studies suggesting that FBN1 gene was responsible for the Marfan syndrome (MFS) phenotype [1–4] before announcing the localisation of the gene on chromosome 15q21.1 in 1991 [3, 5, 6].
Child, AH +3 more
core +1 more source
Marfan syndrome with acute abdomen: a case report
, 2010 Beyazit ZencirciKahramanmaras Sutcu Imam University Medical Faculty, Department of Anesthesiology and Reanimation Kahramanmaras, TurkeyIntroduction: Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of ...
Beyazit Zencirci
core +1 more source
Case Reports in GeneticsNonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo +7 more
doaj +1 more source
Structural and Signaling Mechanisms of Aortic Wall Failure in Heritable Thoracic Aortic Disease
CellsHeritable thoracic aortic diseases (HTAD) are inherited conditions that increase the risk of thoracic aortic aneurysms, dissections, and premature aortic rupture.
Norifumi Takeda +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura +2 more
wiley +1 more source
Identification of Fibrillin-1 Gene Mutations in Marfan Syndrome by High- Resolution Melting Analysis
, 2010 Marfan syndrome has been associated with approximately 562 mutations in the fibrillin-1 (FBN1) gene. Mutation scanning of the FBN1 gene with DNA direct sequencing is time- consuming and expensive because of its large size.
HUNG, CHIA-CHENG;LIN, SHIN-YU;LEE, CHIEN-NAN;CHENG, HUI-YU;LIN, CHIOU-YA;CHANG, CHIEN-HUI;CHIU, HSIN-HUI;YU, CHIH-CHIEH;LIN, SHUAN-PEI;CHENG, WEN-FANG;HO, HONG-NERNG;NIU, DAU-MING;SU, YI-NING +1 more
core +1 more source
A large French family with TGFBR2 pathogenic variant: illustration of variability
Orphanet Journal of Rare DiseasesAims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou +10 more
doaj +1 more source