Genes and deafness

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits

1994 • 1,943 citations

Genetic variants and strains of the laboratory mouse

1990 • 1,519 citations

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

1994 • 1,271 citations

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

1993 • 1,173 citations

Elevated blood pressure and craniofaclal abnormalities in mice deficient in endothelin-1

1994 • 1,002 citations

Genetic Epidemiology of Hearing Impairment

1991 • 941 citations

How the ear's works work

1989 • 852 citations

A large-conductance mechanosensitive channel in E. coli encoded by mscL alone

1994 • 701 citations

Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression

1991 • 698 citations

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1992 • 692 citations

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1991 • 549 citations

The Prevalence of Hearing Impairment and Reported Hearing Disability among Adults in Great Britain

1989 • 538 citations

Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox geneHox-#150;1.6

1992 • 537 citations

Mice homozygous for a targeted disruption of the proto-oncogeneint-2have developmental defects in the tail and inner ear

1993 • 446 citations

TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor

1992 • 409 citations

Gene interactions affecting mechanosensory transduction in Caenorhabditis elegans

1994 • 390 citations

mec-7 is a beta-tubulin gene required for the production of 15-protofilament microtubules in Caenorhabditis elegans.

1989 • 292 citations

A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

1994 • 281 citations

A Molecular basis for human hypersensitivity of aminoglyscoside antibiotics

1993 • 235 citations

Genetic and Metabolic Deafness

1977 • 207 citations

A transmembrane domain of the putative channel subunit MEC-4 influences mechanotransduction and neurodegeneration in C. elegans

1994 • 204 citations

Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11

1992 • 185 citations

The int-2 proto-oncogene is responsible for induction of the inner ear

1991 • 181 citations

Genetic and Metabolic Deafness

1976 • 173 citations

Hox Genes and Regionalization of the Nervous System

1994 • 172 citations

Mechanoelectrical transduction by hair cells

1992 • 168 citations

A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1

1994 • 168 citations

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3

1994 • 164 citations

The Causes of Profound Deafness in Childhood

1970 • 159 citations

The causes of profound deafness in childhood

1977 • 151 citations

Identification of a 120 kd hair-bundle myosin located near stereociliary tips

1993 • 147 citations

Linkage of Autosomal Dominant Hearing Loss to the Short Arm of Chromosome 1 in Two Families

1994 • 137 citations

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1994 • 133 citations

Inherited diseases of the inner ear in man in the light of studies on the mouse.

1968 • 115 citations

Hereditary Inner-Ear Abnormalities in Animals: Relationships With Human Abnormalities

1983 • 111 citations

Strial dysfunction in mice with cochleo-saccular abnormalities

1987 • 109 citations

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1

1992 • 85 citations

The anatomy and development of the fidget mouse

1956 • 74 citations

Effects of Mutations at the W Locus (c‐kit) on Inner Ear Pigmentation and Function in the Mouse

1994 • 73 citations

Characteristics of stria vascularis melanocytes of viable dominantspotting () mouse mutants

1992 • 63 citations

Influence of the Neural Tube on the Differentiation of the Inner Ear in the Mammalian Embryo

1966 • 62 citations

Mouse homologues of human hereditary disease.

1994 • 60 citations

Similarities between ‐Mice and Humans with Hereditary Deafness

1991 • 40 citations

Homozygosity in piebald trait.

1987 • 39 citations

Genetic deafness--progress with mouse models

1994 • 34 citations

The G.L. Brown Prize Lecture. The cellular machinery of the cochlea

1994 • 31 citations

Close linkage of the olfactory marker protein gene to the mouse deafness mutation shaker-1

1992 • 20 citations

Comparative Gene Mapping, Genome Duplication, and the Genetics of Hearing^a

1991 • 18 citations

Traces of her workings

1992 • 17 citations

New insights into genetic eye disease

1992 • 15 citations

New insights into genetic eye disease

1992 • 13 citations