Search details
1.
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Hum Genet
; 142(10): 1499-1517, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37668839
2.
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Proc Natl Acad Sci U S A
; 114(37): E7766-E7775, 2017 09 12.
Article
in English
| MEDLINE | ID: mdl-28847925
3.
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
BMC Med Genet
; 20(1): 118, 2019 07 02.
Article
in English
| MEDLINE | ID: mdl-31266487
4.
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
J Med Genet
; 54(10): 665-673, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28780564
5.
Integrated spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.
bioRxiv
; 2023 Mar 30.
Article
in English
| MEDLINE | ID: mdl-37333290
6.
Profiles of Wnt pathway gene expression during tooth morphogenesis.
Front Physiol
; 14: 1316635, 2023.
Article
in English
| MEDLINE | ID: mdl-38274045
7.
Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.
Nat Commun
; 14(1): 5687, 2023 09 14.
Article
in English
| MEDLINE | ID: mdl-37709732
8.
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Eur J Hum Genet
; 30(1): 42-52, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34837038
9.
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
Cell Physiol Biochem
; 28(3): 545-52, 2011.
Article
in English
| MEDLINE | ID: mdl-22116369
10.
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
Hum Mutat
; 28(10): 1014-9, 2007 Oct.
Article
in English
| MEDLINE | ID: mdl-17546645
11.
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
Laryngoscope
; 127(7): E238-E243, 2017 07.
Article
in English
| MEDLINE | ID: mdl-27859305
12.
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Laryngoscope
; 126(7): E240-7, 2016 07.
Article
in English
| MEDLINE | ID: mdl-26485571
13.
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
JAMA Otolaryngol Head Neck Surg
; 139(9): 907-13, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-24051746
14.
SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.
World J Otorhinolaryngol
; 3(2): 26-34, 2013 May 28.
Article
in English
| MEDLINE | ID: mdl-25960948
15.
Tricellulin is a tight-junction protein necessary for hearing.
Am J Hum Genet
; 79(6): 1040-51, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17186462
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