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

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

1991 • 2,004 citations

A mutation in CFTR produces different phenotypes depending on chromosomal background

1993 • 444 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 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

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

1994 • 259 citations

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

1995 • 231 citations

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

1995 • 190 citations

Diagnosis and management of infantile marfan syndrome.

1990 • 166 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

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

The Cystic Fibrosis Transmembrane Conductance Regulator Gene

1995 • 132 citations

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

1992 • 132 citations

The marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age

1983 • 132 citations

Cardiac Manifestations of Marfan Syndrome in Infancy and Childhood

1973 • 117 citations

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

1992 • 117 citations

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

1990 • 112 citations

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

1991 • 112 citations

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

1993 • 93 citations

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome

1993 • 93 citations

A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis

1994 • 92 citations

Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome

1990 • 89 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

Double mutant alleles: are they rare?

1995 • 65 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

Mutant p53 proteins behave in a dominant, negative fashion in vivo.

1994 • 45 citations

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

1992 • 43 citations

Lethal tricuspid and mitral regurgitation in Marfan's syndrome∗

1967 • 38 citations

Heritable Disorders of Connective Tissue

1960 • 38 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

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

1994 • 32 citations

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.

1994 • 31 citations

Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome

1997 • 27 citations

Early cardiac manifestations of Marfan's syndrome in the newborn

1981 • 22 citations