Associated Papers
Early-onset Marfan syndrome with a novel missense mutation: A case report.
Soma K et al.
Journal of Cardiology Cases, 2023
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
33735269 (PubMed )
Supplement: pone.0248532.s001.xlsx › S1_Table
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review.
Veiga-Fernández A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2020
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q et al.
Bmc Pediatrics, 2016
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Stheneur C et al.
Pediatric Research, 2011
[Genetic testing for Marfan syndrome].
Mizuguchi T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005
Molecular genetics of Marfan syndrome.
Boileau C et al.
Current Opinion in Cardiology, 2005
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
Revencu N et al.
European Journal of Pediatrics, 2004
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
Mátyás G et al.
Human Mutation, 2002
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.
Milewicz DM
Current Opinion in Cardiology, 1998
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