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3p-- syndrome defines a hearing loss locus in 3p25.3
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title
3p-- syndrome defines a hearing loss locus in 3p25.3
(English)
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main subject
hearing loss
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based on heuristic
inferred from title
author name string
Brendan J McCullough
series ordinal
1
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Joe C Adams
series ordinal
2
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Dustin J Shilling
series ordinal
3
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M Patrick Feeney
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4
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Kathleen C Y Sie
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5
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Bruce L Tempel
series ordinal
6
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language of work or name
English
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publication date
February 2007
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published in
Hearing Research
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volume
224
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issue
1-2
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page(s)
51-60
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cites work
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
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Modification of human hearing loss by plasma-membrane calcium pump PMCA2
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Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome
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Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
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Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
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Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice
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GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
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7 April 2017
CALL gene is haploinsufficient in a 3p- syndrome patient
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PubMed Central
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Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice
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mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)
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Genetic deletion of ghrelin does not decrease food intake but influences metabolic fuel preference
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The sensory and motor roles of auditory hair cells
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Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
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Low endolymph calcium concentrations in deafwaddler2J mice suggest that PMCA2 contributes to endolymph calcium maintenance
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Tumors of the endolymphatic sac in von Hippel-Lindau disease.
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Changes in cytochemistry of sensory and nonsensory cells in gentamicin-treated cochleas
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Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
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28 September 2017
Functional study of GJB2 in hereditary hearing loss
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Hearing preservation surgery for small endolymphatic sac tumors in patients with von Hippel-Lindau syndrome
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28 September 2017
Plasma membrane Ca2+-ATPase isoform 2a is the PMCA of hair bundles.
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28 September 2017
Two mechanisms for transducer adaptation in vertebrate hair cells.
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28 September 2017
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
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28 September 2017
Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease
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28 September 2017
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome
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28 September 2017
A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25)
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PubMed Central
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Two infants with del(3)(p25pter) and a review of previously reported cases
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28 September 2017
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995240
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28 September 2017
46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype
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PubMed Central
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30 May 2018
Molecular genetic analysis of the 3p- syndrome
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PubMed Central
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30 May 2018
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
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28 November 2018
Susceptibility to vascular neoplasms but no increased susceptibility to renal carcinogenesis in Vhl knockout mice.
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28 November 2018
Identification of Bphs, an autoimmune disease locus, as histamine receptor H1.
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28 November 2018
Ghrelin gene: identification of missense variants and a frameshift mutation in extremely obese children and adolescents and healthy normal weight students
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995240
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28 November 2018
Connexin26 mutations associated with nonsyndromic hearing loss.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995240
retrieved
28 November 2018
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995240
retrieved
28 November 2018
Regulation of free Ca2+ concentration in hair-cell stereocilia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1995240
retrieved
28 November 2018
Evidence for differential regulation of calcium by outer versus inner hair cells: plasma membrane Ca-ATPase gene expression
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17208398
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/17208398
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.HEARES.2006.11.006
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PMC publication ID
1995240
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PubMed publication ID
17208398
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ResearchGate publication ID
6593630
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