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Genome Scan, Fine-Mapping, And Candidate Gene Analysis Of Non-Syndromic Cleft Lip With Or Without Cleft Palate Reveals Phenotype-Specific Differences In Linkage And Association Results, M. L. Marazita, A. C. Lidral, J. C. Murray, L. L. Field, B. S. Maher, T. Goldstein Mchenry, M. E. Cooper, M. Govil, Sandra Daack-Hirsch, B. Riley, A. Jugessur, T. Felix, L. Morene, M. A. Mansilla, A. R. Vieira, K. Doheny, E. Pugh, C. Valencia-Ramirez, M. Arcos-Burgos
Genome Scan, Fine-Mapping, And Candidate Gene Analysis Of Non-Syndromic Cleft Lip With Or Without Cleft Palate Reveals Phenotype-Specific Differences In Linkage And Association Results, M. L. Marazita, A. C. Lidral, J. C. Murray, L. L. Field, B. S. Maher, T. Goldstein Mchenry, M. E. Cooper, M. Govil, Sandra Daack-Hirsch, B. Riley, A. Jugessur, T. Felix, L. Morene, M. A. Mansilla, A. R. Vieira, K. Doheny, E. Pugh, C. Valencia-Ramirez, M. Arcos-Burgos
Sandra Daack-Hirsch
OBJECTIVES: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). METHODS: We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. RESULTS: Significant (multipoint HLOD >or=3.2) or genome-wide-significant (HLOD >or=4.02) …
A Genome Wide Linkage Scan For Cleft Lip And Palate And Dental Anomalies, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
A Genome Wide Linkage Scan For Cleft Lip And Palate And Dental Anomalies, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Sandra Daack-Hirsch
We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families …
Candidate Gene/Loci Studies In Cleft Lip/Palate And Dental Anomalies Finds Novel Susceptibility Genes For Clefts, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Candidate Gene/Loci Studies In Cleft Lip/Palate And Dental Anomalies Finds Novel Susceptibility Genes For Clefts, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Sandra Daack-Hirsch
PURPOSE: We revisited 42 families with two or more cleft-affected siblings who participated in previous studies. Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes. METHODS: Genotypes from 1489 single nucleotide polymorphism markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First, we ran the analysis solely on the cleft status. Second, we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) and repeated the analysis. RESULTS: …
Genome Scan, Fine-Mapping, And Candidate Gene Analysis Of Non-Syndromic Cleft Lip With Or Without Cleft Palate Reveals Phenotype-Specific Differences In Linkage And Association Results, M. L. Marazita, A. C. Lidral, J. C. Murray, L. L. Field, B. S. Maher, T. Goldstein Mchenry, M. E. Cooper, M. Govil, Sandra Daack-Hirsch, B. Riley, A. Jugessur, T. Felix, L. Morene, M. A. Mansilla, A. R. Vieira, K. Doheny, E. Pugh, C. Valencia-Ramirez, M. Arcos-Burgos
Genome Scan, Fine-Mapping, And Candidate Gene Analysis Of Non-Syndromic Cleft Lip With Or Without Cleft Palate Reveals Phenotype-Specific Differences In Linkage And Association Results, M. L. Marazita, A. C. Lidral, J. C. Murray, L. L. Field, B. S. Maher, T. Goldstein Mchenry, M. E. Cooper, M. Govil, Sandra Daack-Hirsch, B. Riley, A. Jugessur, T. Felix, L. Morene, M. A. Mansilla, A. R. Vieira, K. Doheny, E. Pugh, C. Valencia-Ramirez, M. Arcos-Burgos
Sandra Daack-Hirsch
OBJECTIVES: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). METHODS: We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. RESULTS: Significant (multipoint HLOD >or=3.2) or genome-wide-significant (HLOD >or=4.02) …