(Q24539185)

6 July 2017

Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family (English)

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6 July 2017

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Balciuniene J

1

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6 July 2017

Dahl N

2

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6 July 2017

Borg E

3

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6 July 2017

Samuelsson E

4

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6 July 2017

Koisti MJ

5

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6 July 2017

Pettersson U

6

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6 July 2017

Jazin EE

7

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6 July 2017

language of work or name

English

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publication date

1 September 1998

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American Journal of Human Genetics

6 July 2017

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6 July 2017

63

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6 July 2017

786-793

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6 July 2017

3

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Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect

6 July 2017

1 reference

7 January 2021

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

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7 January 2021

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

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7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

7 January 2021

Deafness due to Pro250Arg mutation of FGFR3.

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7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

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7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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7 January 2021

A mutation in PDS causes non-syndromic recessive deafness

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7 January 2021

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

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7 January 2021

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

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7 January 2021

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

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7 January 2021

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

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7 January 2021

Genes responsible for human hereditary deafness: symphony of a thousand

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7 January 2021

A foundation for limb-girdle muscular dystrophy

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7 January 2021

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

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7 January 2021

A metric map of humans: 23,500 loci in 850 bands

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7 January 2021

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

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7 January 2021

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

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7 January 2021

Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics

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7 January 2021

Genetic epidemiology of hearing impairment

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7 January 2021

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

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7 January 2021

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

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7 January 2021

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

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7 January 2021

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

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7 January 2021

Avoiding recomputation in linkage analysis.

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7 January 2021

Mitochondrial Deafness

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7 January 2021

Identifiers

DOI

10.1086/302012

1 reference

release_2y7sy6dif5cypkajrpp2o3eknq

6 July 2017

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PMCID

1377400

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6 July 2017

1 reference