Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Construction of multilocus genetic linkage maps in humans.

1987 • 1,461 citations

Characterization of the human factor VIII gene

1984 • 983 citations

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

1987 • 875 citations

An STS-Based Map of the Human Genome

1995 • 782 citations

The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

1994 • 751 citations

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1992 • 571 citations

A Comprehensive Human Linkage Map with Centimorgan Density

1994 • 547 citations

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1995 • 426 citations

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map

1994 • 405 citations

Hemophilia A

1994 • 348 citations

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

1995 • 226 citations

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

1993 • 211 citations

Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease.

1980 • 207 citations

Structure of the gene for human coagulation factor V

1992 • 183 citations

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

1995 • 182 citations

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

1993 • 142 citations

Combined Factor V and Factor VIII Deficiency among Non-Ashkenazi Jews

1982 • 122 citations

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

1996 • 91 citations

Evidence of normal functional levels of activated protein C inhibitor in combined Factor V/VIII deficiency disease.

1982 • 77 citations

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

1996 • 57 citations

Abnormal formation of the prothrombinase complex:

1987 • 55 citations

Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.

1991 • 52 citations

[Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers].

1954 • 48 citations

Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII

1983 • 35 citations

Combined Congenital Deficiency of Factor V and Factor VIII

1976 • 33 citations

Combined Factor‐V and Factor‐ VIII Deficiency: Report of Four Cases

1969 • 30 citations

Studies on human protein C inhibitor in normal and factor V/VIII deficient plasmas

1984 • 25 citations

Combined Congenital Deficiency of Factor V and Factor VIII

1982 • 15 citations

Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency

1984 • 13 citations

Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study

1985 • 9 citations

Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII

1983 • 4 citations

Combined Factor V and Factor VIII Deficiency

1983 • 3 citations

Exodontia in combined factor V and factor VIII deficiency

1985 • 2 citations