Results 151 to 160 of about 66,726 (167)

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment With Aminoglycosides

American Journal of Human Genetics, 1998
SummaryHearing loss involves both genetic and environmental factors. A mutation (A1555G) in the mtDNA has been associated with aminoglycoside-induced and nonsyndromic sensorineural deafness.
Celia Badenas, Xavier Estivill i Pallejà, Antonio Torroni   +2 more
exaly   +2 more sources

Connexin-26 Mutations in Sporadic and Inherited Sensorineural Deafness

Lancet, The, 1998
BACKGROUND: Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic.
Raquel Rabionet, Xavier Estivill i Pallejà, Paolo Gasparini   +2 more
exaly   +2 more sources

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Connexin-26 Mutations in Sporadic Non-Syndromal Sensorineural Deafness

Lancet, The, 1998
Guy Van Camp, Nicholas Lench, Robert Mueller   +2 more
exaly  

Sensorineural Deafness in the FG Syndrome: Report on Four New Cases

American Journal of Medical Genetics, Part A, 1984
Giovanni Neri, John Marius Opitz, Bruce Blumberg   +2 more
exaly  

HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Associated With Del(10)(p13)

American Journal of Medical Genetics, Part A, 1997
Tomonobu Hasegawa, Yukihiro Hasegawa, Yutaka Tsuchiya   +2 more
exaly  

Prevalence of the Mitochondrial DNA A1555G Mutation in Sensorineural Deafness Patients in Island Southeast Asia

Journal of Human Genetics, 2003
Safarina G Malik, Herawati Sudoyo, Abdul Kadir   +2 more
exaly  

Inherited Palmoplantar Keratoderma and Sensorineural Deafness Associated With A7445G Point Mutation in the Mitochondrial Genome.

British Journal of Dermatology, 2000
Agnès Rötig, M C Machet, M C Machet
exaly  

Autosomal Recessive Inheritance of Charcot-Marie-Tooth Disease Associated With Sensorineural Deafness

Clinical Genetics, 1984

exaly  

A Novel Mitochondrial Point Mutation in a Maternal Pedigree With Sensorineural Deafness

Human Mutation, 1994
Howard Jacobs
exaly  

The Perrault Syndrome: Autosomal Recessive Ovarian Dysgenesis With Facultative, Non-Sex-Limited Sensorineural Deafness

American Journal of Medical Genetics, Part A, 1979
John Marius Opitz
exaly