Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28847925
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780564
3.
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
J Med Genet
; 48(11): 767-75, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21940737
4.
Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation.
Otol Neurotol
; 39(3): e181-e185, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342053
5.
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
Laryngoscope
; 127(7): E238-E243, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859305
6.
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Laryngoscope
; 126(7): E240-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485571
7.
Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct.
Otolaryngol Head Neck Surg
; 153(2): 257-62, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25968061
8.
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
Invest Ophthalmol Vis Sci
; 56(1): 107-14, 2014 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425308
9.
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
JAMA Otolaryngol Head Neck Surg
; 139(9): 907-13, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24051746