Detalhe da pesquisa
1.
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
2.
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
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.
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
6.
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
7.
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
8.
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
9.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Eur J Hum Genet
; 31(7): 815-823, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072551
10.
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
J Pathol
; 225(1): 12-8, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21792934
11.
Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis.
Genes (Basel)
; 13(7)2022 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885890
12.
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Am J Hum Genet
; 82(4): 809-21, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18313022
13.
Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?
Public Health Genomics
; 24(5-6): 253-260, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34500452
14.
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Eur J Hum Genet
; 28(7): 925-937, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467599
15.
Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.
Heart Rhythm
; 17(7): 1159-1166, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120009
16.
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Mol Genet Genomic Med
; 8(2): e1070, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31782267
17.
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Kidney Int
; 76(2): 215-23, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19367329
18.
Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.
Genet Med
; 11(12): 859-65, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20010364
19.
"There are days I wish it wasn't there, and there's days I realize I'm lucky": A qualitative study of psychological sequelae to the implantable cardioverter defibrillator as a treatment for the prevention of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.
JRSM Cardiovasc Dis
; 6: 2048004017698614, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186284
20.
Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy.
Circ Arrhythm Electrophysiol
; 9(3)2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26966288