A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

Autor: Carmen J. Buxó, Katherine Neiswanger, Ana Maria Lopez-Palacio, Lian Ma, Mauricio Arcos-Burgos, Luz Consuelo Valencia-Ramirez, Seth M. Weinberg, Jacqueline T. Hecht, Dora Rivera Valencia, Eva Maria Cutiongco-de la Paz, Eduardo E. Castilla, Robert A. Cornell, Toby Goldstein McHenry, Babatunde S. Aregbesola, Mary L. Marazita, Elizabeth J. Leslie, Flávia Martinez de Carvalho, Lina M. Moreno, Andrew E. Czeizel, Mekonen Eshete, Cecelia A. Laurie, John R. Shaffer, Carmencita Padilla, Rolv T. Lie, Carla A. Sanchez, Ramat Oyebunmi Braimah, Jennifer Standley, Peter A. Mossey, Susan H. Blanton, Iêda M. Orioli, Kaare Christensen, Olutayo James, Frederic W.-B. Deleyiannis, Javier Enríquez de Salamanca, Alexandre R. Vieira, Wasiu Lanre Adeyemo, Huan Liu, Allen J. Wilcox, Jenna C. Carlson, George L. Wehby, Paul A. Romitti, Ronald G. Munger, Fernando A. Poletta, L. Leigh Field, Judith M. Resick, Cathy C. Laurie, Figen Seymen, Mine Koruyucu, Azeez Butali, Andrew C. Lidral, Kimberly F. Doheny, Milliard Deribew, Deepti Jain, Eleanor Feingold, Juan C. Mereb, Jeffrey C. Murray, Beth Emanuele, Jennifer Jacobs

Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Leslie, E J, Liu, H, Carlson, J C, Shaffer, J R, Feingold, E, Wehby, G, Laurie, C A, Jain, D, Laurie, C C, Doheny, K F, McHenry, T, Resick, J, Sanchez, C, Jacobs, J, Emanuele, B, Vieira, A R, Neiswanger, K, Standley, J, Czeizel, A E, Deleyiannis, F, Christensen, K, Munger, R G, Lie, R T, Wilcox, A, Romitti, P A, Field, L L, Padilla, C D, Cutiongco-de la Paz, E M C, Lidral, A C, Valencia-Ramirez, L C, Lopez-Palacio, A M, Valencia, D R, Arcos-Burgos, M, Castilla, E E, Mereb, J C, Poletta, F A, Orioli, I M, Carvalho, F M, Hecht, J T, Blanton, S H, Buxó, C J, Butali, A, Mossey, P A, Adeyemo, W L, James, O, Braimah, R O, Aregbesola, B S, Eshete, M A, Deribew, M, Koruyucu, M, Seymen, F, Ma, L, de Salamanca, J E, Weinberg, S M, Moreno, L, Cornell, R A, Murray, J C & Marazita, M L 2016, ' A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3 ', American Journal of Human Genetics, vol. 98, no. 4, pp. 744-754 . https://doi.org/10.1016/j.ajhg.2016.02.014

Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7467c71ba3adfcf20201b467fc5062b
https://hdl.handle.net/20.500.12530/27047

Novel Cleft Susceptibility Genes in Chromosome 6q

Autor: Ariadne Letra, B.C. Bjork, Manika Govil, Jon D. Hennebold, Melinda J. Murphy, Iêda M. Orioli, Rick A. Martin, Alexandre R. Vieira, Renata F. Fonseca, E. E. Castilla, Mary L. Marazita, José Mauro Granjeiro, Renato Menezes, Toby Goldstein McHenry

Publikováno v: Journal of Dental Research. 89:927-932

Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de2c560eaf5652a4e7c3fa316f128a1
https://doi.org/10.1177/0022034510370004

A genome wide linkage scan for cleft lip and palate and dental anomalies

Autor: Jeffrey C. Murray, Sandra Daack-Hirsch, Toby Goldstein McHenry, Alexandre R. Vieira, Mary L. Marazita

Publikováno v: American Journal of Medical Genetics Part A. :1406-1413

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 reanaly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8f9448a8a46432f51098fad46af05c9
https://doi.org/10.1002/ajmg.a.32295

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

Autor: Elizabeth W. Pugh, Kim Doheny, Têmis Maria Félix, Astanand Jugessur, Bridget Riley, Andrew C. Lidral, Toby Goldstein McHenry, Manika Govil, Margaret E. Cooper, Brion S. Maher, Lina Morene, Alexandre R. Vieira, Consuelo Valencia-Ramirez, M. Adela Mansilla, Sandra Daack-Hirsch, Jeffrey C. Murray, L. Leigh Field, Mauricio Arcos-Burgos, Mary L. Marazita

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 l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da4e6498daf9f1ae81938ea4bd110e4
https://europepmc.org/articles/PMC2709160/

An ordered subset approach to including covariates in the transmission disequilibrium test

Autor: Françoise Clerget-Darpoux, Brion S. Maher, Toby Goldstein McHenry, Hervé Perdry, Mary L. Marazita, Marie-Claude Babron

Publikováno v: BMC Proceedings, Vol 1, Iss Suppl 1, p S77 (2007)
BMC Proceedings

Clinical heterogeneity of a disease may reflect an underlying genetic heterogeneity, which may hinder the detection of trait loci. Consequently, many statistical methods have been developed that allow for the detection of linkage and/or association s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfee52a7d9b4f6145bc18b4ea4fc2ed
http://www.gaworkshop.org/