Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

Prevalence of Muscular Dystrophies: A Systematic Literature Review

2014 • 1,944 citations

The rate of spontaneous mutation of a human gene

1935 • 510 citations

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

1985 • 380 citations

Report of the committee on the genetic constitution of the X and Y chromosomes

1985 • 369 citations

Spontaneous Mutation in Man

1975 • 346 citations

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

1985 • 231 citations

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

1984 • 161 citations

Carrier Detection in Duchenne Muscular Dystrophy

1976 • 127 citations

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

1983 • 122 citations

Systemic Membrane Defect in the Proximal Muscular Dystrophies

1978 • 118 citations

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

1976 • 109 citations

Mutation rate in Duchenne type of muscular dystrophy.

1970 • 83 citations

The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.

1983 • 63 citations

Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.

1978 • 60 citations

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

1980 • 46 citations

Frequency of new mutants among boys with Duchenne muscular dystrophy

1980 • 42 citations

No sex difference in mutations rates of Duchenne muscular dystrophy.

1980 • 41 citations

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study.

1976 • 41 citations

Duchenne muscular dystrophy

1977 • 40 citations

Duchenne muscular dystrophy. A population study

1977 • 40 citations

Mutation in Human Populations

1985 • 35 citations

Duchenne muscular dystrophy

1984 • 19 citations

[Carrier detection and genetic counselling in duchenne muscular dystrophy (author's transl)].

1977 • 9 citations

The estimation of recurrence risks in monogenic disorders using flanking marker loci.

1985 • 6 citations

Serum-Creatin-Kinase und Sulfhydril-Konzentration nach isch�mischer Arbeitsbelastung der Vorderarmmuskulatur bei Patienten und Konduktorinnen der progressiven Muskeldystrophie Duchenne

1971 • 4 citations