(Q30665416)

26 June 2017

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title

Advances in hereditary deafness (English)

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26 June 2017

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M Tekin

1

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author name string

K S Arnos

series ordinal

2

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26 June 2017

A Pandya

series ordinal

3

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26 June 2017

language of work or name

English

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publication date

1 September 2001

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26 June 2017

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26 June 2017

volume

358

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26 June 2017

issue

9287

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26 June 2017

page(s)

1082-1090

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Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

26 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

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7 January 2021

High carrier frequency of the 35delG deafness mutation in European populations

1 reference

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7 January 2021

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Relation between choice of partner and high frequency of connexin-26 deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Prevalent connexin 26 gene (GJB2) mutations in Japanese

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Connexin 26 gene linked to a dominant deafness

1 reference

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7 January 2021

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Pendred syndrome--100 years of underascertainment?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Maternally inherited hearing impairment

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Benefits of early intervention for children with hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

The European Consensus Development Conference on Neonatal Hearing Screening (Milan, May 15-16, 1998).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

1 reference

7 January 2021

Attitudes of deaf adults toward genetic testing for hereditary deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Prenatal diagnosis for inherited deafness--what is the potential demand?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Innovative approach to genetic counseling services for the deaf population

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906186-4

7 January 2021

10.1016/S0140-6736(01)06186-4

Identifiers

DOI

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26 June 2017

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