Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

Cloning of Large Segments of Exogenous DNA into Yeast by Means of Artificial Chromosome Vectors

1987 • 1,517 citations

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

1985 • 1,207 citations

A first-generation physical map of the human genome

1993 • 446 citations

Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss

1980 • 248 citations

Familial branchio‐oto‐renal dysplasia: A new addition to the branchial arch syndromes

1976 • 175 citations

Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

1978 • 161 citations

Branchio‐oto‐renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred

1986 • 119 citations

The earpits-deafness syndrome. Clinical and genetic aspects

1980 • 85 citations

Branchio‐oto‐renal dysplasia and branchio‐oto dysplasia: Two distinct autosomal dominant disorders

1978 • 72 citations

Hereditary Deafness in Family with Ear-pits (Fistula Auris Congenita)

1955 • 70 citations

Tricho‐rhino‐phalangeal and branchio‐oto syndromes in a family with an inherited rearrangement of chromosome 8q

1989 • 69 citations

Localization of the gene for branchiootorenal syndrome to chromosome 8q

1992 • 69 citations

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: Effect of genotyping errors

1992 • 66 citations

Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family

1992 • 65 citations

Dominant branchial cleft syndrome with characteristics of both branchio‐oto‐renal and branchio‐oculo‐facial syndrome

1990 • 46 citations

Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: A new syndrome?

1983 • 42 citations

Lateral Cervical and Preauricular Sinuses: Their Transmission as Dominant Characters

1961 • 42 citations

Inheritance of branchial sinuses and preauricular fistulae

1974 • 36 citations

[Deafness and familial congenital auricular fistulas].

1972 • 16 citations

[On the impairment of the first 2 fissures and the first 2 brachial arches. (Apropos of 8 familial cases presenting an unusual syndrome)].

1966 • 1 citations