ArticleNucleic acids research1998
Marfan Database (third edition): new mutations and new routines for the software.
Article in Nucleic acids research, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 109 citations in OpenAlex.
- Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome.American heart journal · 2007Trial
- Wnt Signaling Inhibition Prevents Postnatal Inflammation and Disease Progression in Mouse Congenital Myxomatous Valve Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders.Biomolecules & biomedicine · 2024Article
- The biology of SCUBE.Journal of biomedical science · 2023Review
- Clinical and genetic findings in Chinese families with congenital ectopia lentis.Molecular genetics & genomic medicine · 2023Article
- SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.American journal of human genetics · 2021Article
- Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.Molecular genetics & genomic medicine · 2019Article
- New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.BMC genetics · 2014Article
- Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.BoneKEy reports · 2013Article
- Switch region for pathogenic structural change in conformational disease and its prediction.PloS one · 2010Article
- Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.Molecular vision · 2008Article
- A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.Journal of perinatology : official journal of the California Perinatal Association · 2008Article
- The molecular genetics of Marfan syndrome and related disorders.Journal of medical genetics · 2006Review
- Cardiovascular management of marfan syndrome in the young.Current treatment options in cardiovascular medicine · 2006Article
- Marfan's syndrome.Lancet (London, England) · 2005Review
- Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.The Journal of clinical investigation · 2004Article
- Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.American journal of human genetics · 2003Article
- Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.The British journal of ophthalmology · 2002Article
- Marfan syndrome in the third Millennium.European journal of human genetics : EJHG · 2002Review
- Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.American journal of human genetics · 2002Article
Corrections and comments
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Authors and funding
19 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Marfan database is a software that contains routines for the analysis of mutations identified in the FBN1 gene that encodes fibrillin-1. Mutations in this gene are associated not only with Marfan syndrome but also with a spectrum of overlapping disorders. The third version of the Marfan database contains 137 entries. The software has been modified to accommodate four new routines and is now accessible on the World Wide Web at http://www.umd.necker.fr
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.