Detalhe da pesquisa
1.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Hum Genet
; 143(5): 721-734, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691166
2.
Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.
J Med Genet
; 60(11): 1061-1066, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37164627
3.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
4.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Hum Genet
; 141(11): 1723-1738, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226187
5.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 465-484, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34410491
6.
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Mol Ther
; 29(8): 2441-2455, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33895329
7.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Am J Hum Genet
; 103(1): 74-88, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961571
8.
Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.
Ear Hear
; 42(6): 1508-1524, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369416
9.
Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers.
Ear Hear
; 42(6): 1525-1543, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369417
10.
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
J Med Genet
; 2020 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631815
11.
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203967
12.
Impact of cochlear implantation on the function of the three semicircular canals.
Int J Audiol
; 59(11): 843-849, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32643456
13.
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Hum Genet
; 138(1): 61-72, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535804
14.
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Genet Med
; 21(5): 1199-1208, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287925
15.
Bayesian quantification of sensory reweighting in a familial bilateral vestibular disorder (DFNA9).
J Neurophysiol
; 119(3): 1209-1221, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357473
16.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Hum Genet
; 137(5): 389-400, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754270
17.
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Am J Hum Genet
; 97(5): 647-60, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522471
18.
Risk factors for complications in cochlear implant surgery.
Eur Arch Otorhinolaryngol
; 275(4): 895-903, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429025
19.
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Hum Genet
; 141(3-4): 991, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34608567
20.
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Ophthalmology
; 123(5): 1151-60, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26927203