Detalhe da pesquisa
1.
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Cancer Sci
; 114(7): 2993-3002, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067535
2.
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.
Clin Genet
; 103(4): 466-471, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597280
3.
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
4.
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.
J Med Genet
; 58(6): 427-432, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576657
5.
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.
Hum Mutat
; 41(1): 316-331, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31599023
6.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2409, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114025
7.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2239-2247, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894701
8.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160754
9.
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Mol Vis
; 25: 559-573, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673222
10.
Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds.
Ear Hear
; 40(1): 184-191, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688962
11.
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.
J Hum Genet
; 63(5): 647-656, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29500469
12.
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
BMC Pediatr
; 18(1): 171, 2018 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29792164
13.
Mitochondrial mutations in maternally inherited hearing loss.
BMC Med Genet
; 18(1): 32, 2017 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28320335
14.
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
Biochem Biophys Res Commun
; 469(2): 270-4, 2016 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26631968
15.
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.
Am J Med Genet A
; 185(3): 952-954, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369046
16.
Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.
Eur Arch Otorhinolaryngol
; 273(11): 3547-3552, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942920
17.
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
Biochem Biophys Res Commun
; 463(4): 582-6, 2015 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26036578
18.
Neuroprotective effects of cutamesine, a ligand of the sigma-1 receptor chaperone, against noise-induced hearing loss.
J Neurosci Res
; 93(5): 788-95, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612541
19.
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.
Biochem Biophys Res Commun
; 447(3): 496-502, 2014 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24735539
20.
Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.
BMC Res Notes
; 17(1): 131, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38730444