Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome

Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders

1998 • 693 citations

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

1997 • 660 citations

The eyes absent gene: Genetic control of cell survival and differentiation in the developing Drosophila eye

1993 • 557 citations

Making a difference: The role of cell-cell interactions in establishing separate identities for equivalent cells

1992 • 452 citations

MouseEyahomologues of theDrosophila eyes absentgene requirePax6for expression in lens and nasal placode

1997 • 333 citations

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

1980 • 248 citations

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

1997 • 233 citations

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels☆

1991 • 213 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

BOR and BO syndromes are allelic defects of EYA1.

1997 • 137 citations

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

1986 • 119 citations

BOR and BO Syndromes Are Allelic Defects of EYA1

1997 • 112 citations

The earpits-deafness syndrome. Clinical and genetic aspects

1980 • 85 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

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

1992 • 65 citations

Lateral Cervical and Preauricular Sinuses: Their Transmission as Dominant Characters

1961 • 42 citations

Otological Aspects of the Earpit-Deafness Syndrome

1981 • 39 citations

Hereditary branchial anomalies and associated hearing impairment

1966 • 38 citations

FAMILIAL HEARING LOSS ASSOCIATED WITH BRANCHIAL FISTULAS

1969 • 36 citations

Inheritance of branchial sinuses and preauricular fistulae

1974 • 36 citations

Narrowing the Genetic Interval and Yeast Artificial Chromosome Map in the Branchio–Oto–Renal Region on Chromosome 8q

1996 • 21 citations

Shoulder abnormalities in association with branchio-oto-renal dysplasia in a patient who also has familial joint laxity

1992 • 20 citations

The Branchio-Oto-Renal Syndrome

1982 • 19 citations

The branchio-oto-renal syndrome

1988 • 16 citations

[Deafness and familial congenital auricular fistulas].

1972 • 16 citations

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

1994 • 9 citations