ReviewEuropean journal of human genetics : EJHG2002
Marfan syndrome in the third Millennium.
Review in European journal of human genetics : EJHG, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed.
- Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.Frontiers in cell and developmental biology · 2025Review
- Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.International journal of molecular sciences · 2021Article
- Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.Frontiers in molecular biosciences · 2021Article
- A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.BMC medical genetics · 2020Article
- Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Molecular genetics & genomic medicine · 2020Article
- Ocular Manifestations and Biometrics in Marfan's Syndrome from Eastern Nepal.Clinical ophthalmology (Auckland, N.Z.) · 2020Article
- Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci.Scientific reports · 2017Article
- Trigeminal neuralgia in a patient with Marfan syndrome: case report.Neurologia medico-chirurgica · 2015Review
- Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.International journal of clinical and experimental medicine · 2015Article
- A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.International journal of ophthalmology · 2015Article
- C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Molecular vision · 2015Article
- Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.Molecular vision · 2014Article
- Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.Molecular vision · 2012Article
- Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.Molecular vision · 2012Article
- Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.Molecular vision · 2011Article
- Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Molecular vision · 2011Article
- Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.European journal of human genetics : EJHG · 2009Article
- Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.Molecular vision · 2009Article
- ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.Nature genetics · 2008Article
- Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.Molecular vision · 2008Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Marfan syndrome (MFS) is a prominent member of heritable disorders of connective tissue with manifestations involving primarily the skeletal, ocular and cardiovascular systems but also and less systematically investigated the lung, skin and integument, and dura. Over the last two decades, a considerable amount of clinical, molecular and protein data had accumulated. In combination with the study of natural and transgenic animal models, this new information provides greater insight into the pathogenic mechanisms underlying not only the pleiotropic manifestations of MFS but also the important degree of clinical variability (age of onset and severity) observed between patients. The following aspects will be described in this review: the structure and function of fibrillin-1; the fibrillin proteins; mutations in the FBN1 gene and pathogenic mechanisms; animal models. Finally, the currently available laboratory diagnostic tests and their limits will be discussed.
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