Detalhe da pesquisa
1.
Shared genetic risk between major orofacial cleft phenotypes in an African population.
Genet Epidemiol
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634654
2.
SPECC1L regulates palate development downstream of IRF6.
Hum Mol Genet
; 29(5): 845-858, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943082
3.
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).
Cleft Palate Craniofac J
; 59(7): 841-851, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382870
4.
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
Cleft Palate Craniofac J
; : 10556656221135926, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384317
5.
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.
Dev Biol
; 458(2): 246-256, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765609
6.
Genomic analyses in African populations identify novel risk loci for cleft palate.
Hum Mol Genet
; 28(6): 1038-1051, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452639
7.
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Am J Hum Genet
; 98(4): 744-54, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018472
8.
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
Hum Mol Genet
; 25(13): 2862-2872, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033726
9.
Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.
Cleft Palate Craniofac J
; 55(5): 736-742, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29489415
10.
Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.
Res Sq
; 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38464065
11.
Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.
Mol Genet Genomic Med
; 11(10): e2237, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37496383
12.
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Sci Rep
; 12(1): 11743, 2022 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35817949
13.
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Mol Genet Genomic Med
; 8(8): e1355, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558391
14.
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.
Mol Genet Genomic Med
; 6(6): 924-932, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30141273
15.
The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
Mol Genet Genomic Med
; 5(2): 164-171, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28361103
16.
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
Mol Genet Genomic Med
; 2(3): 254-60, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24936515