Diabetes-deafness syndrome maternally transmitted (disorder)

Known as: NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS, Diabetes mellitus, type 2, with deafness, Mitochondrial Inherited Diabetes and Deafness 
 
National Institutes of Health

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Highly Cited
2012
Highly Cited
2012
BEVRA H. HAHN, MAUREEN A. MCMAHON, ALAN WILKINSON, W. DEAN WALLACE, DAVID I. DAIKH, JOHN D. FITZGERALD, GEORGE A. KARPOUZAS, JOAN… (More)
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Highly Cited
2002
Highly Cited
2002
Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory… (More)
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Highly Cited
2001
Highly Cited
2001
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular… (More)
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Highly Cited
2001
Highly Cited
2001
Mitochondrial (mt) gene abnormalities cause disease due to defects in oxidative production of energy (1). In 1990, Goto and… (More)
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Highly Cited
2000
Highly Cited
2000
The mitochondrial tRNA(Leu)(UUR) (R = A or G) gene possesses several hot spots for pathogenic mutations. A point mutation at… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Mutations in the GJB2 gene cause one form of nonsyndromic recessive deafness. Among Mediterranean Europeans, more than… (More)
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Highly Cited
1997
Highly Cited
1997
Genetic hearing impairment affects around 1 in every 2,000 births1. The bulk (approximately 70%) of genetic deafness is non… (More)
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Highly Cited
1991
Highly Cited
1991
Different point mutations of the mitochondrial genome, which all affect the ability of mitochondria to translate their own genes… (More)
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Highly Cited
1988
Highly Cited
1988
Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac… (More)
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