Výsledky vyhledávání - Jennifer Standley
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1
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases Autor Elizabeth J. Leslie, Jennifer Standley, John G. Compton, Sherri J. Bale, Brian C. Schutte, Jeffrey C. Murray
Vydáno 2012Artigo -
2
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders Autor Elizabeth J. Leslie, James O’Sullivan, Michael L. Cunningham, Ankur Singh, Steven L. Goudy, Faroug Ababneh, Lamia Alsubaie, Gaik‐Siew Ch'ng, Ingrid M. B. H. van der Laar, A. Jeannette M. Hoogeboom, Martine Dunnwald, Seema Kapoor, Pawina Jiramongkolchai, Jennifer Standley, J. Robert Manak, Jeffrey C. Murray, Michael J. Dixon
Vydáno 2015Artigo -
3
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes Autor Jenna C. Carlson, Jennifer Standley, Aline Petrin, John R. Shaffer, Azeez Butali, Carmen J. Buxó, Eduardo E. Castilla, Kaare Christensen, Frederic Deleyiannis, Jacqueline T. Hecht, L. Leigh Field, Ariuntuul Garidkhuu, Lina M. Moreno Uribe, Nagato Natsume, Iêda M. Orioli, Carmencita D. Padilla, Fernando A. Poletta, Satoshi Suzuki, Alexandre R. Vieira, George L. Wehby, Seth M. Weinberg, Terri H. Beaty, Eleanor Feingold, Jeffrey C. Murray, Mary L. Marazita, Elizabeth J. Leslie
Vydáno 2017Artigo -
4
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate Autor Liza L. Cox, Timothy C. Cox, Lina M. Moreno Uribe, Ying Zhu, Chika T. Richter, Nichole Nidey, Jennifer Standley, Mei Deng, Elizabeth Blue, Jessica X. Chong, Yueqin Yang, Russ P. Carstens, Deepti Anand, Salil A. Lachke, Joshua D. Smith, Michael O. Dorschner, Bruce Bedell, Edwin P. Kirk, Anne Hing, Hanka Venselaar, Luz Consuelo Valencia‐Ramirez, Michael J. Bamshad, Ian Glass, Jonathan A. Cooper, Eric Haan, Deborah A. Nickerson, Hans van Bokhoven, Huiqing Zhou, Katy N. Krahn, Michael F. Buckley, Jeffrey C. Murray, Andrew C. Lidral, Tony Roscioli
Vydáno 2018Artigo -
5
Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci Autor Elizabeth J. Leslie, Margaret A. Taub, Huan Liu, Karyn Meltz Steinberg, Daniel C. Koboldt, Qunyuan Zhang, Jenna C. Carlson, Jacqueline B. Hetmanski, Hang Wang, David E. Larson, Robert S. Fulton, Youssef A. Kousa, Walid D. Fakhouri, Ali Naji, Ingo Ruczinski, Ferdouse Begum, Margaret M. Parker, Tamara Busch, Jennifer Standley, Jennifer Rigdon, Jacqueline T. Hecht, Alan F. Scott, George L. Wehby, Kaare Christensen, Andrew E. Czeizel, Frederic W.‐B. Deleyiannis, Brian C. Schutte, Richard K. Wilson, Robert A. Cornell, Andrew C. Lidral, George M. Weinstock, Terri H. Beaty, Mary L. Marazita, Jeffrey C. Murray
Vydáno 2015Artigo -
6
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3 Autor Elizabeth J. Leslie, Huan Liu, Jenna C. Carlson, John R. Shaffer, Eleanor Feingold, George L. Wehby, Cecelia Laurie, Deepti Jain, Cathy C. Laurie, Kimberly F. Doheny, Toby McHenry, Judith Resick, Carla Sanchez, Jennifer Jacobs, Beth Emanuele, Alexandre R. Vieira, Katherine Neiswanger, Jennifer Standley, Andrew E. Czeizel, Frederic W.‐B. Deleyiannis, Kaare Christensen, Ronald G. Munger, Rolv T. Lie, Allen J. Wilcox, Paul A. Romitti, L. Leigh Field, Carmencita D. Padilla, Eva Maria C. Cutiongco–de la Paz, Andrew C. Lidral, Luz Consuelo Valencia‐Ramirez, Ana María López-Palacio, Dora Rivera Valencia, Mauricio Arcos‐Burgos, Eduardo E. Castilla, Juan C. Mereb, Fernando A. Poletta, Iêda M. Orioli, Flávia Martinez de Carvalho, Jacqueline T. Hecht, Susan H. Blanton, Carmen J. Buxó, Azeez Butali, Peter Mossey, Wasiu Lanre Adeyemo, Olutayo James, Ramat Oyebunmi Braimah, Babatunde S. Aregbesola, Mekonen Eshete, Milliard Deribew, Mine Koruyucu, Figen Seymen, Lian Ma, Javier Salamanca, Seth M. Weinberg, Lina M. Moreno, Robert A. Cornell, Jeffrey C. Murray, Mary L. Marazita
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Exome sequencing
Genome-wide association study
Genotype
Medicine
Mutation
Phenotype
Single-nucleotide polymorphism
Ophthalmology
Pterygium
Allele
Allelic heterogeneity
Bioinformatics
Botany
CDH1
Cadherin
Cell
Computational biology
Craniofacial
Dermatology
Exome
Genetic architecture
Genetic association
Genetic counseling
Genetic heterogeneity
Identification (biology)
Locus (genetics)
Mendelian inheritance