Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Emily, Sites"'
Autor:
Huachun Zhong, Natalie Bir, Patrick J. Brennan, Carly Grubbs, Jesse Hunter, Betsy Schmalz, Amy Siemon, Harkness Kuck, Richard K. Wilson, Eric Bosley, Austin Antoniou, Erin Crist, Emily Sites, Shannon Garner, Kandamurugu Manickam, April Lehman, Rachel Gosselin, Bimal Chaudhari, Aimee Jalkanen, Peter White, Aimee McKinney, Jenni Carroll, Shireen A. Woodiga, Benjamin J. Kelly, Scott E. Hickey, Kristy Lee, Kyle Voytovich, Samantha Choi, Elaine R. Mardis, Cortland Martin, Catherine E. Cottrell, Vijayakumar Jayaraman, Mari Mori, Adam Herman, Marco Leung, Valentina Caceres, Don Corsmeier, Gregory L. Wheeler, Bianca Zapanta, David Gordon, Grant E. Lammi, Samuel J Franklin, Vincent Magrini, Andrei Rajkovic, Sarah Savage, Ingrid Chen, Matthew J. Schultz, Dennis Bartholomew, Matthew Pastore, Joshua Brenneman, Kim L. McBride, Kristen V. Truxal, Daniel C. Koboldt
Publikováno v:
Molecular Genetics and Metabolism. 132:S165-S166
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d12aa53962ff3b0369b80f9d18e3406
https://doi.org/10.1016/s1096-7192(21)00346-2
https://doi.org/10.1016/s1096-7192(21)00346-2
Publikováno v:
Pediatric Neurology. 74:11-14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcd7afa72c8d43e305af6b9614c25ece
https://doi.org/10.1016/j.pediatrneurol.2017.01.026
https://doi.org/10.1016/j.pediatrneurol.2017.01.026
Autor:
Emily Sites, Matthew Pastore, Megan A. Waldrop, Dennis Bartholomew, Chang-Yong Tsao, Kevin M. Flanigan, Rachel Schrader
Publikováno v:
Neuropediatrics. 50(2)
Next-generation sequencing is a powerful diagnostic tool, yet it has proven inadequate to establish a diagnosis in all cases of congenital hypotonia or childhood onset weakness. We sought to describe the impact of whole exome sequencing (WES), which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04f80cf0f5ced0eb4249de280f1cece5
https://pubmed.ncbi.nlm.nih.gov/30665247
https://pubmed.ncbi.nlm.nih.gov/30665247
Autor:
Daniel C, Koboldt, Theresa, Mihalic Mosher, Benjamin J, Kelly, Emily, Sites, Dennis, Bartholomew, Scott E, Hickey, Kim, McBride, Richard K, Wilson, Peter, White
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e26a2c565704dcf6fee9d5b3e022bb15
https://pubmed.ncbi.nlm.nih.gov/29305346
https://pubmed.ncbi.nlm.nih.gov/29305346
Autor:
David A. Stevenson, Emily Sites, Teresa A. Smolarek, David Viskochil, Ludwine Messiaen, Nicole J. Ullrich, Lisa J. Martin, Elizabeth K. Schorry
Publikováno v:
American journal of medical genetics. Part A. 173(3)
Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1c1442a81b48e43f87bb01d91285e02
https://pubmed.ncbi.nlm.nih.gov/27862945
https://pubmed.ncbi.nlm.nih.gov/27862945
Autor:
Theresa Mihalic Mosher, Scott E. Hickey, Kim L. McBride, Benjamin J. Kelly, Richard K. Wilson, Emily Sites, Dennis Bartholomew, Peter White, Daniel C. Koboldt
Publikováno v:
Molecular Case Studies. 4:a002410
Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6286747c6b8e0b42114d7c75087a3bc1
https://doi.org/10.1101/mcs.a002410
https://doi.org/10.1101/mcs.a002410
Autor:
Conxi Lázaro, Anil G. Jegga, Margaret R. Wallace, Eduard Serra, Tapan Mehta, Shyra J. Miller, G. Petur Nielsen, Grier P. Page, Meena Upadhyaya, Hua Li, Walter J. Jessen, Emily Sites, Bruce J. Aronow, Eva López, David Muir, Atira Hardiman, Marco Giovannini, Nancy Ratner, Anat Stemmer-Rachamimov, Sergio Kaiser
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
EMBO Molecular Medicine
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
EMBO Molecular Medicine
Understanding the biological pathways critical for common neurofibromatosis type 1 (NF1) peripheral nerve tumours is essential, as there is a lack of tumour biomarkers, prognostic factors and therapeutics. We used gene expression profiling to define
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050d0975df48bf1ea091aa77de35262d
http://hdl.handle.net/2445/123877
http://hdl.handle.net/2445/123877
Autor:
Pamela L. Wenzel, Lizhao Wu, Michael L. Robinson, Geoffrey Dureska, Joel H. Saltz, Richard Sharp, James C. Cross, Kun Huang, Emily Sites, Kishore R. Mosaliganti, Randall Ridgway, Gustavo Leone, Hideyuki Yamamoto, Tony Pan, Ashish Sharma, Alain de Bruin, Jean Leon Chong, Raghu Machiraju, Wen-Yi Chen
The inactivation of the retinoblastoma (Rb) tumor suppressor gene in mice results in ectopic proliferation, apoptosis, and impaired differentiation in extraembryonic, neural, and erythroid lineages, culminating in fetal death by embryonic day 15.5 (E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed3fc64f989b4175596b345ef9afd6f4
https://europepmc.org/articles/PMC1759903/
https://europepmc.org/articles/PMC1759903/