Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Elizabeth J Leslie"'
Autor:
Debashree Ray, Sowmya Venkataraghavan, Wanying Zhang, Elizabeth J Leslie, Jacqueline B Hetmanski, Seth M Weinberg, Jeffrey C Murray, Mary L Marazita, Ingo Ruczinski, Margaret A Taub, Terri H Beaty
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009584 (2021)
Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts- the most common craniofacial birth defects in humans- are commonly categorized into cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which are t
Externí odkaz:
https://doaj.org/article/90525a7ed9d84f02a38684f2479cc4de
Autor:
Katherine Neiswanger, Nandita Mukhopadhyay, Shwetha Rajagopalan, Elizabeth J Leslie, Carla A Sanchez, Jacqueline T Hecht, Iêda M Orioli, Fernando A Poletta, Javier Enríquez de Salamanca, Seth M Weinberg, Mary L Marazita
Publikováno v:
PLoS ONE, Vol 15, Iss 3, p e0230534 (2020)
Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial bi
Externí odkaz:
https://doaj.org/article/dd806ce1c31549b188c19881c86818ad
Publikováno v:
PLoS Genetics, Vol 14, Iss 6, p e1007438 (2018)
Externí odkaz:
https://doaj.org/article/11bc93789533487287836ce3ae39dca1
Autor:
Myoung Keun Lee, John R Shaffer, Elizabeth J Leslie, Ekaterina Orlova, Jenna C Carlson, Eleanor Feingold, Mary L Marazita, Seth M Weinberg
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0176566 (2017)
Several studies have now shown evidence of association between common genetic variants and quantitative facial traits in humans. The reported associations generally involve simple univariate measures and likely represent only a small fraction of the
Externí odkaz:
https://doaj.org/article/acb3850f21b34020beab869aeb883ab7
Autor:
Caroline Caetano da Silva, Claudio Macias Trevino, Jason Mitchell, Hemma Murali, Casey Tsimbal, Eileen Dalessandro, Shannon H. Carroll, Simren Kochhar, Sarah W. Curtis, Ching Hsun Eric Cheng, Feng Wang, Eric Kutschera, Russ P. Carstens, Yi Xing, Kai Wang, Elizabeth J. Leslie, Eric C. Liao
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their disruption result in OFC in zebrafish, mouse and humans. Using esrp1/2 muta
Externí odkaz:
https://doaj.org/article/d34d269b32354c1e9fa1ec00b6085b6b
Autor:
John R Shaffer, Ekaterina Orlova, Myoung Keun Lee, Elizabeth J Leslie, Zachary D Raffensperger, Carrie L Heike, Michael L Cunningham, Jacqueline T Hecht, Chung How Kau, Nichole L Nidey, Lina M Moreno, George L Wehby, Jeffrey C Murray, Cecelia A Laurie, Cathy C Laurie, Joanne Cole, Tracey Ferrara, Stephanie Santorico, Ophir Klein, Washington Mio, Eleanor Feingold, Benedikt Hallgrimsson, Richard A Spritz, Mary L Marazita, Seth M Weinberg
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006149 (2016)
Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta
Externí odkaz:
https://doaj.org/article/ed7692180bbb452eb4bebb2f863ab148
Autor:
Zena T Wolf, Harrison A Brand, John R Shaffer, Elizabeth J Leslie, Boaz Arzi, Cali E Willet, Timothy C Cox, Toby McHenry, Nicole Narayan, Eleanor Feingold, Xioajing Wang, Saundra Sliskovic, Nili Karmi, Noa Safra, Carla Sanchez, Frederic W B Deleyiannis, Jeffrey C Murray, Claire M Wade, Mary L Marazita, Danika L Bannasch
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005059 (2015)
Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. I
Externí odkaz:
https://doaj.org/article/47a92d09d52f423194554cfef9e253b3
Autor:
Zena T Wolf, Elizabeth J Leslie, Boaz Arzi, Kartika Jayashankar, Nili Karmi, Zhonglin Jia, Douglas J Rowland, Amy Young, Noa Safra, Saundra Sliskovic, Jeffrey C Murray, Claire M Wade, Danika L Bannasch
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004257 (2014)
Cleft palate (CP) is one of the most commonly occurring craniofacial birth defects in humans. In order to study cleft palate in a naturally occurring model system, we utilized the Nova Scotia Duck Tolling Retriever (NSDTR) dog breed. Micro-computed t
Externí odkaz:
https://doaj.org/article/3c8a3673c2594cea8fff240da57ea38e
Autor:
Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W. Curtis, Elizabeth J. Leslie, Lukas M. Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100313- (2024)
Summary: Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de n
Externí odkaz:
https://doaj.org/article/d1da2bc8f18746018552c2282332f15a
Publikováno v:
Bioinformatics. 39
Motivation There is widespread interest in identifying genetic variants that exhibit parent-of-origin effects (POEs) wherein the effect of an allele on phenotype expression depends on its parental origin. POEs can arise from different phenomena inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e534f2432dc80ca72fb453db4340a0
https://doi.org/10.1093/bioinformatics/btad199
https://doi.org/10.1093/bioinformatics/btad199