Found: 25
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Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-15885-1
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- Article
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2237
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- Article
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2138
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- Article
Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1655
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- Article
Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1355
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- Article
Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research.
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- BMC Public Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12889-024-17987-z
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- Article
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 697, doi. 10.1177/10556656221135926
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- Article
Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate.
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- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 9, p. 1125, doi. 10.1177/10556656211038453
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- Article
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).
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- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 7, p. 841, doi. 10.1177/10556656211036316
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- Article
Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.
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- Cleft Palate Craniofacial Journal, 2018, v. 55, n. 5, p. 736, doi. 10.1177/1055665618754948
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- Article
X-Chromosomal Maternal and Fetal SNPs and the Risk of Spontaneous Preterm Delivery in a Danish/Norwegian Genome-Wide Association Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061781
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- Article
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 1, p. 27, doi. 10.1002/bdra.23596
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- Article
Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.
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- Human Genetics, 2013, v. 132, n. 8, p. 935, doi. 10.1007/s00439-013-1304-5
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- Article
Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 3/4, p. 301, doi. 10.1515/jpem-2011-0456
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- Article
Variant Analyses of Candidate Genes in Orofacial Clefts in Multi‐Ethnic Populations.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.03614
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- Article
Role of Rare Variants in Craniofacial Enhancer Regions in the Etiology of Non‐Syndromic Orofacial Clefts.
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- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.04371
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- Article
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 924, doi. 10.1002/mgg3.459
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- Article
The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 164, doi. 10.1002/mgg3.273
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- Article
SPECC1L regulates palate development downstream of IRF6.
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- Human Molecular Genetics, 2020, v. 29, n. 5, p. 845, doi. 10.1093/hmg/ddaa002
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- Article
The TFAP2A–IRF6–GRHL3 genetic pathway is conserved in neurulation.
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- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1726, doi. 10.1093/hmg/ddz010
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- Article
Genomic analyses in African populations identify novel risk loci for cleft palate.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1038, doi. 10.1093/hmg/ddy402
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- Article
Variant analyses of candidate genes in orofacial clefts in multi‐ethnic populations.
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- Oral Diseases, 2022, v. 28, n. 7, p. 1921, doi. 10.1111/odi.13932
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- Article
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4879, doi. 10.1093/hmg/ddp444
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- Article
Replication of GWAS significant loci in a sub-Saharan African Cohort with early childhood caries: a pilot study.
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- BMC Oral Health, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12903-021-01623-y
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- Article
Shared genetic risk between major orofacial cleft phenotypes in an African population.
- Published in:
- Genetic Epidemiology, 2024, v. 48, n. 6, p. 258, doi. 10.1002/gepi.22564
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- Article