Detalhe da pesquisa
1.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet
; 141(3-4): 431-444, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278131
2.
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Hum Genet
; 141(3-4): 965-979, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633540
3.
"Something is just not right with my hearing": early experiences of adults living with hearing loss.
Int J Audiol
; 61(9): 787-797, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34612131
4.
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
BMC Med Genet
; 20(1): 68, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31046701
5.
Characterising and justifying sample size sufficiency in interview-based studies: systematic analysis of qualitative health research over a 15-year period.
BMC Med Res Methodol
; 18(1): 148, 2018 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463515
6.
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Hum Genet
; 136(1): 107-118, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27838790
7.
Technology-assisted self-testing and management of oral anticoagulation therapy: a qualitative patient-focused study.
Scand J Caring Sci
; 31(3): 603-617, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500499
8.
Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy.
Genet Med
; 18(6): 584-92, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26513349
9.
Relationships between sleep apnea, cardiovascular disease risk factors, and aortic pulse wave velocity over 18 years: the Wisconsin Sleep Cohort.
Sleep Breath
; 20(2): 813-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25913148
10.
The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Eur Heart J
; 36(14): 872-81, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24598986
11.
Minimal nocturnal oxygen saturation predicts future subclinical carotid atherosclerosis: the Wisconsin sleep cohort.
J Sleep Res
; 24(6): 680-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26096939
12.
Obstructive sleep apnea is associated with future subclinical carotid artery disease: thirteen-year follow-up from the Wisconsin sleep cohort.
Arterioscler Thromb Vasc Biol
; 34(10): 2338-42, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189572
13.
Obstructive sleep apnea during REM sleep and hypertension. results of the Wisconsin Sleep Cohort.
Am J Respir Crit Care Med
; 190(10): 1158-67, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25295854
14.
HEADROOM APPROACH TO DEVICE DEVELOPMENT: CURRENT AND FUTURE DIRECTIONS.
Int J Technol Assess Health Care
; 31(5): 331-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26694550
15.
Association between asthma and risk of developing obstructive sleep apnea.
JAMA
; 313(2): 156-64, 2015 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25585327
16.
A Postcard from the COVID-19 Crisis Response: Lessons and Opportunities for Remediation.
Ground Water Monit Remediat
; 40(4): 19-26, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33230383
17.
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
Eur Heart J
; 34(13): 1002-11, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161701
18.
APOE-ε4 is not associated with pure-tone hearing thresholds, visual acuity or cognition, cross-sectionally or over 3 years of follow up in the Canadian Longitudinal Study on Aging.
Neurobiol Aging
; 138: 72-82, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38547662
19.
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
Hum Mutat
; 34(1): 66-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22911656
20.
Increased prevalence of sleep-disordered breathing in adults.
Am J Epidemiol
; 177(9): 1006-14, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23589584