Detalhe da pesquisa
1.
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
PLoS Genet
; 16(4): e1008643, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294086
2.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genet Med
; 23(11): 2208-2212, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230634
3.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Hum Mutat
; 39(11): 1593-1613, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311386
4.
Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma.
Cureus
; 16(2): e54992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38550477
5.
Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Sci Rep
; 13(1): 6595, 2023 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087513
6.
A large-scale analysis of odor coding in the olfactory epithelium.
J Neurosci
; 31(25): 9179-91, 2011 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697369
7.
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.
Int J Pediatr Otorhinolaryngol
; 152: 110975, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34801268
8.
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Orphanet J Rare Dis
; 17(1): 114, 2022 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248088
9.
Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Sci Rep
; 12(1): 969, 2022 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35046468
10.
Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.
Int J Pediatr Otorhinolaryngol
; 149: 110840, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34293626
11.
Siglec-7 mediates nonapoptotic cell death independently of its immunoreceptor tyrosine-based inhibitory motifs in monocytic cell line U937.
Glycobiology
; 20(3): 395-402, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20032046
12.
Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations.
Auris Nasus Larynx
; 47(6): 938-942, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553771
13.
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Gene
; 704: 86-90, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30978479
14.
The first sporadic case of DFNA11 identified by next-generation sequencing.
Int J Pediatr Otorhinolaryngol
; 100: 183-186, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28802369
15.
['Glyco'-protein in cerebrospinal fluid as a diagnostic marker for dementia].
Nihon Rinsho
; 69 Suppl 8: 69-73, 2011 Oct.
Artigo
em Japonês
| MEDLINE | ID: mdl-22787756
16.
Lectin-dependent inhibition of antigen-antibody reaction: application for measuring α2,6-sialylated glycoforms of transferrin.
J Biochem
; 154(3): 229-32, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23921500
17.
A unique N-glycan on human transferrin in CSF: a possible biomarker for iNPH.
Neurobiol Aging
; 33(8): 1807-15, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21459485
18.
Inhibition of ganglioside synthesis reduces the neuronal survival activity of astrocytes.
Neurosci Lett
; 488(2): 199-203, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21093540
19.
High Throughput ELISAs to Measure a Unique Glycan on Transferrin in Cerebrospinal Fluid: A Possible Extension toward Alzheimer's Disease Biomarker Development.
Int J Alzheimers Dis
; 2011: 352787, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21876827
20.
[Glycan biomaker in CSF].
Rinsho Shinkeigaku
; 50(11): 971-2, 2010 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-21921530