Human NDUFB9 Gene: Genomic Organization and a Possible Candidate Gene Associated with Deafness Disorder Mapped to Chromosome 8q13

Sequence and organization of the human mitochondrial genome

1981 • 9,348 citations

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1993 • 1,173 citations

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

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1992 • 612 citations

Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase

1985 • 517 citations

The respiratory‐chain NADH dehydrogenase (complex I) of mitochondria

1991 • 489 citations

URF6, Last Unidentified Reading Frame of Human mtDNA, Codes for an NADH Dehydrogenase Subunit

1986 • 344 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

Sequences of 20 subunits of NADH: Ubiquinone oxidoreductase from bovine heart mitochondria

1992 • 180 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

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1993 • 160 citations

Structure of NADH-Ubiquinone Reductase (Complex I)

1987 • 150 citations

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

1986 • 119 citations

Mitochondrial biology, degenerative diseases and aging

1998 • 118 citations

Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

1992 • 101 citations

The earpits-deafness syndrome. Clinical and genetic aspects

1980 • 85 citations

Mitochondrial Mutations and Hearing Loss: Paradigm for Mitochondrial Genetics

1998 • 85 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

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

1998 • 54 citations

Branchio-Oto-Renal Syndrome: Identification of Novel Mutations, Molecular Characterization, Mutation Distribution, and Prospects for Genetic Testing

1997 • 52 citations

Lateral Cervical and Preauricular Sinuses: Their Transmission as Dominant Characters

1961 • 42 citations

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13

1998 • 41 citations

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)

1998 • 36 citations

Inheritance of branchial sinuses and preauricular fistulae

1974 • 36 citations

The Human B22 Subunit of the NADH-Ubiquinone Oxidoreductase Maps to the Region of Chromosome 8 Involved in Branchio-Oto-Renal Syndrome

1996 • 23 citations

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

1996 • 21 citations

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

1994 • 9 citations