Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1991 • 2,004 citations

Revised diagnostic criteria for the Marfan syndrome

1996 • 1,565 citations

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

1986 • 1,129 citations

International nosology of heritable disorders of connective tissue, Berlin, 1986

1988 • 704 citations

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1995 • 478 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

Solution Structure of a Pair of Calcium-Binding Epidermal Growth Factor-like Domains: Implications for the Marfan Syndrome and Other Genetic Disorders

1996 • 437 citations

Immunohistologic Abnormalities of the Microfibrillar-Fiber System in the Marfan Syndrome

1990 • 393 citations

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome

1993 • 356 citations

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome

1993 • 312 citations

Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

1993 • 298 citations

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.

1996 • 290 citations

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

1991 • 276 citations

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

1992 • 267 citations

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1994 • 259 citations

Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End

1993 • 259 citations

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

1995 • 231 citations

Fibrillin-1 (FBN1) Mutations in Patients With Thoracic Aortic Aneurysms

1996 • 208 citations

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

1995 • 190 citations

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

1996 • 177 citations

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

1992 • 151 citations

Calcium Stabilizes Fibrillin-1 against Proteolytic Degradation

1997 • 151 citations

A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

1995 • 150 citations

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1992 • 132 citations

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1991 • 132 citations

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.

1994 • 129 citations

A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome

1994 • 126 citations

Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

1996 • 124 citations

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

1992 • 117 citations

Connective Tissue Microfibrils

1989 • 116 citations

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

1993 • 108 citations

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1993 • 93 citations

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

1996 • 93 citations

The role of calcium in the organization of fibrillin microfibrils

1993 • 92 citations

A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis

1994 • 92 citations

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families.

1990 • 91 citations

Fibrillin abnormalities and prognosis in marfan syndrome and related disorders

1995 • 89 citations

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.

1995 • 84 citations

Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence

1997 • 72 citations

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1993 • 68 citations

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

1993 • 67 citations

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

1993 • 61 citations

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

1994 • 60 citations

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

1994 • 59 citations

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

1995 • 53 citations

A Point Mutation Creating an ExtraN-Glycosylation Site in Fibrillin-1 Results in Neonatal Marfan Syndrome

1996 • 53 citations

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

1997 • 52 citations

Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome

1994 • 51 citations

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

1994 • 44 citations

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.

1994 • 38 citations

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

1997 • 37 citations

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15–21 in Marfan syndrome patients

1994 • 37 citations

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts

1994 • 35 citations

A new missense mutation of fibrillin in a patient with Marfan syndrome.

1994 • 32 citations

Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts

1996 • 31 citations

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.

1996 • 28 citations

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

1996 • 26 citations

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

1994 • 20 citations

Carrier detection of Batten disease (Juvenile neuronal ceroid‐lipofuscinosis)

1995 • 13 citations

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred

1994 • 12 citations