Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Por Joshi, Charuta, Kolbe, Diana L., Mansilla, M. Adela, Mason, Sara O., Smith, Richard J. H., Campbell, Colleen A.
Publicado no Biomed Res Int (2016)

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome wide association on chromosome 1...

Por Leslie, Elizabeth J, Mansilla, M Adela, Biggs, Leah C, Schuette, Kristi, Bullard, Steve, Cooper, Margaret, Dunnwald, Martine, Lidral, Andrew C, Marazita, Mary L, Beaty, Terri H, Murray, Jeffrey C
Publicado em 2012

Impaired FGF signaling contributes to cleft lip and palate

Por Riley, Bridget M., Mansilla, M. Adela, Ma, Jinghong, Daack-Hirsch, Sandra, Maher, Brion S., Raffensperger, Lisa M., Russo, Erilynn T., Vieira, Alexandre R., Dodé, Catherine, Mohammadi, Moosa, Marazita, Mary L., Murray, Jeffrey C.
Publicado em 2007

A Mutation in Mouse Pak1ip1 Causes Orofacial Clefting while Human PAK1IP1 Maps to 6p24 Translocation Breaking Points Associated with Orofacial Clefting

Por Ross, Adam P., Mansilla, M. Adela, Choe, Youngshik, Helminski, Simon, Sturm, Richard, Maute, Roy L., May, Scott R., Hozyasz, Kamil K., Wójcicki, Piotr, Mostowska, Adrianna, Davidson, Beth, Adamopoulos, Iannis E., Pleasure, Samuel J., Murray, Jeffrey C., Zarbalis, Konstantinos S.
Publicado em 2013

CRISPLD2 VARIANTS INCLUDING A C471T SILENT MUTATION MAY CONTRIBUTE TO NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE

Por Letra, Ariadne, Menezes, Renato, Cooper, Margaret E., Fonseca, Renata F., Tropp, Stephen, Govil, Manika, Granjeiro, Jose M., Imoehl, Sandra R., Mansilla, M. Adela, Murray, Jeffrey C., Castilla, Eduardo E., Orioli, Iêda M., Czeizel, Andrew E., Ma, Lian, Chiquet, Brett T., Student, Dental, Hecht, Jacqueline T., Vieira, Alexandre R., Marazita, Mary L.
Publicado em 2010

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 Res...

Por Marazita, Mary L., Lidral, Andrew C., Murray, Jeffrey C., Field, L.Leigh, Maher, Brion S., Goldstein McHenry, Toby, Cooper, Margaret E., Govil, Manika, Daack-Hirsch, Sandra, Riley, Bridget, Jugessur, Astanand, Felix, Temis, Morene, Lina, Mansilla, M.Adela, Vieira, Alexandre R., Doheny, Kim, Pugh, Elizabeth, Valencia-Ramirez, Consuelo, Arcos-Burgos, Mauricio
Publicado em 2009

Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35

Por Marazita, Mary L., Murray, Jeffrey C., Lidral, Andrew C., Arcos-Burgos, Mauricio, Cooper, Margaret E., Goldstein, Toby, Maher, Brion S., Daack-Hirsch, Sandra, Schultz, Rebecca, Mansilla, M. Adela, Field, L. Leigh, Liu, You-e, Prescott, Natalie, Malcolm, Sue, Winter, Robin, Ray, Ajit, Moreno, Lina, Valencia, Consuelo, Neiswanger, Katherine, Wyszynski, Diego F., Bailey-Wilson, Joan E., Albacha-Hejazi, Hasan, Beaty, Terri H., McIntosh, Iain, Hetmanski, Jacqueline B., Tunçbilek, Gökhan, Edwards, Matthew, Harkin, Louise, Scott, Rodney, Roddick, Laurence G.
Publicado em 2004