Detalhe da pesquisa
1.
Hearing loss in Africa: current genetic profile.
Hum Genet
; 141(3-4): 505-517, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609590
2.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
J Hum Genet
; 66(12): 1169-1175, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226616
3.
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
JCI Insight
; 9(9)2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38716726
4.
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Genes (Basel)
; 14(2)2023 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833326
5.
Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.
OMICS
; 26(1): 2-18, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35041532
6.
Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families.
Front Genet
; 13: 924904, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035115
7.
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Commun Biol
; 5(1): 369, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35440622
8.
Sickle cell disease in sub-Saharan Africa: transferable strategies for prevention and care.
Lancet Haematol
; 8(10): e744-e755, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481550
9.
Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa).
Front Rehabil Sci
; 2: 726761, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-36188771
10.
Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment.
Exp Biol Med (Maywood)
; 246(2): 197-206, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32996353
11.
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Exp Biol Med (Maywood)
; 246(13): 1524-1532, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715530
12.
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Genes (Basel)
; 12(11)2021 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828371
13.
"Pain is Subjective": A Mixed-Methods Study of Provider Attitudes and Practices Regarding Pain Management in Sickle Cell Disease Across Three Countries.
J Pain Symptom Manage
; 61(3): 474-487, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32889040
14.
DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.
Mol Genet Genomic Med
; 8(8): e1362, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32543101
15.
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Life (Basel)
; 10(11)2020 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33126609
16.
Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Genes (Basel)
; 11(11)2020 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33114113
17.
Hearing Impairment Overview in Africa: the Case of Cameroon.
Genes (Basel)
; 11(2)2020 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32098311
18.
Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).
Genes (Basel)
; 11(2)2020 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32012997