Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease

A new technique for the assay of infectivity of human adenovirus 5 DNA

1973 • 9,740 citations

NAMD2: Greater Scalability for Parallel Molecular Dynamics

1999 • 2,396 citations

A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

1991 • 2,314 citations

Epidemiological investigation of the prevalence of von Willebrand's disease

1987 • 956 citations

Structure of the gene for human von Willebrand factor

1989 • 497 citations

Prevalence of von Willebrand disease in children: A multiethnic study

1993 • 454 citations

Human von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal Localization

1985 • 420 citations

Intron splicing: a conserved internal signal in introns of animal pre-mRNAs.

1984 • 342 citations

Von Willebrand disease type 1: a diagnosis in search of a disease

2003 • 305 citations

Cloning and characterization of two cDNAs coding for human von Willebrand factor.

1985 • 302 citations

Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level.

1985 • 266 citations

Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit.

1986 • 260 citations

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

1991 • 235 citations

Molecular cloning of cDNA for human von willebrand factor: Authentication by a new method

1985 • 162 citations

Mvwf, a Dominant Modifier of Murine von Willebrand Factor, Results from Altered Lineage-Specific Expression of a Glycosyltransferase

1999 • 162 citations

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

1990 • 160 citations

Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor

1996 • 139 citations

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

1991 • 120 citations

von Willebrand disease in a pediatric-based population--comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/collagen-binding assay.

2000 • 120 citations

Recessive inheritance of von Willebrand's disease type I

1993 • 119 citations

Luminographic Detection of von Willebrand Factor Multimers in Agarose Gels and on Nitrocellulose Membranes

1990 • 116 citations

von Willebrand Disease in a Pediatric-based Population - Comparison of Type 1 Diagnostic Criteria and Use of the PFA-100® and a von Willebrand Factor/Collagen-binding Assay

2000 • 108 citations

Inconsistency of Association between Type 1 von Willebrand Disease Phenotype and Genotype in Families Identified in an Epidemiological Investigation

1999 • 106 citations

Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease.

1997 • 100 citations

Genetic heterogeneity of severe von Willebrand disease type III in the German population

1994 • 96 citations

Characterization of the Genetic Defects in Recessive Type 1 and Type 3 von Willebrand Disease Patients of Italian Origin

1998 • 92 citations

Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins

2001 • 83 citations

Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.

1991 • 72 citations

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.

1992 • 66 citations

A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11

1996 • 62 citations

Mutations in Severe, Type III von Willebrand’s Disease in the Dutch Population: Candidate Missense and Nonsense Mutations Associated with Reduced Levels of von Willebrand Factor Messenger RNA

1992 • 58 citations

Molecular Modeling of Ligand and Mutation Sites of the Type A Domains of Human von Willebrand Factor and Their Relevance to von Willebrand's Disease

1998 • 58 citations

Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect

2000 • 50 citations

The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor

1996 • 49 citations

A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients

1992 • 38 citations

A stop codon in a patient with severe type III von Willebrand disease [letter]

1991 • 25 citations

Mapping and Functional Studies of Two Alloantibodies Developed in Patients with Type 3 von Willebrand Disease

2000 • 20 citations

A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene

2002 • 13 citations

Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease

2001 • 12 citations

Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease

1993 • 12 citations

von Willebrand disease in Finland

1999 • 5 citations

von Willebrand disease in Denmark: demography and treatment

1999 • 5 citations