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Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Sandra Daack-Hirsch
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …
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) …
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) …
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Sandra Daack-Hirsch
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …