Molecular Genetics of X-Linked Hearing Impairment (Q36532664)

14 August 2017

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title

Molecular genetics of X-linked hearing impairment (English)

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14 August 2017

Molecular Genetics of X-Linked Hearing Impairment (English)

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

28 October 2022

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history and philosophy of science

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

28 October 2022

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H. G. Brunner

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683204

28 October 2022

B. Smeets

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683204

28 October 2022

D. Smeets

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683204

28 October 2022

M. Nelen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683204

28 October 2022

C. W. Cremers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683204

28 October 2022

H. H. Ropers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1683204

28 October 2022

language of work or name

English

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publication date

1 January 1991

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full work available at URL

14 August 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1749-6632.1991.tb19586.x

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1749-6632.1991.tb19586.x/fullpdf

28 October 2022

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Annals of the New York Academy of Sciences

28 October 2022

published in

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14 August 2017

volume

630

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14 August 2017

page(s)

176-190

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X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

14 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

FG syndrome update 1988: note of 5 new patients and bibliography

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

X-linked inheritance of ocular albinism with late-onset sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

The oto-palato-digital syndrome, proposed type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Familial spastic paraparesis and deafness. A new x-linked neurodegenerative disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

X-linked syndrome of branchial arch and other defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Prenatal exclusion of Norrie disease with flanking DNA markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Localization of the gene for classic Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1991.TB19586.X

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK

21 January 2018

3

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

28 October 2022

9

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

28 October 2022

11

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

X-linked neuropathy: gene localization with DNA probes

28 October 2022

13

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

The Quarterly Journal of Medicine

28 October 2022

15

75

491

Morgan S. H.

1990

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

28 October 2022

16

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Localisation of the gene for Hunter syndrome on the long arm of X chromosome

28 October 2022

18

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities

28 October 2022

19

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Congenital deafness and hypogonadism: a new X-linked recessive disorder

28 October 2022

21

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

28 October 2022

22

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

28 October 2022

23

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

28 October 2022

27

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

28 October 2022

28

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Familial opticoacoustic nerve degeneration and polyneuropathy

28 October 2022

31

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery

28 October 2022

36

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation

28 October 2022

39

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Report of the committee on the genetic constitution of the X chromosome

28 October 2022

40

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Localization of the gene for X-linked Alport's syndrome

28 October 2022

45

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

Linkage in a family with X-linked Charcot-Marie-Tooth disease

28 October 2022

50

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https://api.crossref.org/works/10.1111/J.1749-6632.1991.TB19586.X

28 October 2022

Identifiers

1 reference

14 August 2017

1 reference