Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Suzanne Macfarland"'
Autor:
Suzanne MacFarland, Jessica Ebrahimzadeh, Kristin Zelley, Petar Mamula, Garrett Brodeur, Bryson Katona
Publikováno v:
Journal of Clinical and Translational Science, Vol 3, Pp 108-108 (2019)
OBJECTIVES/SPECIFIC AIMS: Juvenile Polyposis Syndrome (JPS) is an inherited cancer predisposition syndrome sometimes attributed to a germline mutation in SMAD4 or BMPR1A. However, many patients meet clinical criteria for JPS without having a pathogen
Externí odkaz:
https://doaj.org/article/fe709c7e723e44948e0d622970550a36
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Carlos Rodriguez-Galindo, Michael R. Clay, Jinling Wang, Roya Mostafavi, Kim E. Nichols, Richard Kriwacki, Maria N. Formiga, Kelsey Breen, Michael F. Walsh, Suzanne MacFarland, Jacquelyn Powers, Aaron Phillips, Hadeel Halalsheh, Kara N. Maxwell, Emilia M. Pinto
Pintotable1.xlsxTable S1a. Cohort characteristicsTable S1b. Frequencies and features of TP53 variants at codon 125 in public databasesTable S1c. Annotation and interpretation of TP53 variants at codon 125 and surrounding basesTable S1d. Splice site p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226ae274c89df5f05417c264983b788b
https://doi.org/10.1158/1541-7786.22527977
https://doi.org/10.1158/1541-7786.22527977
Autor:
Gerard P. Zambetti, Raul C. Ribeiro, Carlos Rodriguez-Galindo, Michael R. Clay, Jinling Wang, Roya Mostafavi, Kim E. Nichols, Richard Kriwacki, Maria N. Formiga, Kelsey Breen, Michael F. Walsh, Suzanne MacFarland, Jacquelyn Powers, Aaron Phillips, Hadeel Halalsheh, Kara N. Maxwell, Emilia M. Pinto
S1. Proband pedigrees. S2. TP53 status as determined by Multiplex Ligation Probe Amplification for Saos-2 and H1299 cell lines. S3. TP53 altering splice variants in the (a) IARC database (b) PCGP database. (c) Total germline TP53 variants observed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb0c6d04a038dda02387697e1a88e73
https://doi.org/10.1158/1541-7786.22527974
https://doi.org/10.1158/1541-7786.22527974
Autor:
Feng, Xu, Erfan, Aref-Eshghi, Jinhua, Wu, Jeffrey, Schubert, Gerald, Wertheim, Tricia, Bhatti, Jennifer, Pogoriler, Maha, Patel, Kajia, Cao, Ariel, Long, Zhiqian, Fan, Elizabeth H, Denenberg, Elizabeth A, Fanning, Donna M, Wilmoth, Minjie, Luo, Laura K, Conlin, Aleksandra S, Dain, Kristin, Zelley, Sarah, Baldino, Naomi, Balamuth, Suzanne, MacFarland, Marilyn M, Li, Yiming, Zhong
Publikováno v:
Cold Spring Harbor molecular case studies. 8(3)
Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime including soft tissue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ac63a987518078304622887e94241f1
https://pubmed.ncbi.nlm.nih.gov/35232817
https://pubmed.ncbi.nlm.nih.gov/35232817
Autor:
Haley Newman, Caroline Diorio, Daniel Eison, Haley Faust, Suzanne MacFarland, Laura Palmer, Madhura Pradhan, Leslie Kersun
Early in the Coronavirus Disease 2019 pandemic, our medical center, like many, halted in-person learning activities. The narrative medicine sessions we planned for the pediatric hematology/oncology fellows were no exception. At this time we also witn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::915601e3d4b78b09a1a4cd247fc16f3d
https://doi.org/10.22541/au.163503434.41233770/v1
https://doi.org/10.22541/au.163503434.41233770/v1
Autor:
Conrad J. Fernandes, Yun K. Du, Anh Le, Madeline Good, Melani Duvall, Suzanne MacFarland, Kara Maxwell, Bryson W. Katona
Publikováno v:
Gastroenterology. 162:S-136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ddf98d13a7864a631128b75f551d4e9
https://doi.org/10.1016/s0016-5085(22)60332-9
https://doi.org/10.1016/s0016-5085(22)60332-9
Autor:
Feng Xu, Erfan Aref-Eshghi, Jinhua Wu, Jeffrey Schubert, Gerald Wertheim, Tricia Bhatti, Jennifer Pogoriler, Maha Patel, Kajia Cao, Ariel Long, Zhiqian Fan, Elizabeth Denenberg, Elizabeth Fanning, Donna Wilmoth, Minjie Luo, Laura Conlin, Aleksandra Sarah Dain, Sarah Baldino, Kristin Zelley, Naomi J Balamuth, Suzanne Macfarland, Marilyn M Li, Yiming Zhong
Publikováno v:
Molecular Case Studies. :mcs.a006181
Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime including soft tissue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43c9a49093b7e151d2cc9cb1bd5b2abe
https://doi.org/10.1101/mcs.a006181
https://doi.org/10.1101/mcs.a006181
Autor:
Feng Xu, Erfan Aref-Eshghi, Jinhua Wu, Jeffrey Schubert, Maha Patel, Zhiqian Fan, Kajia Cao, Ariel Long, Elizabeth Denenberg, Elizabeth Fanning, Donna Wilmoth, Gerald Wertheim, Minjie Luo, Laura Conlin, Tricia Bhatti, Aleksandra Dain, Kristin Zelley, Naomi Balamuth, Suzanne MacFarland, Marilyn Li, Yiming Zhong
Publikováno v:
Genetics in Medicine. 24:S182
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61f9924d6b244daa5ab0a194166a2e95
https://doi.org/10.1016/j.gim.2022.01.323
https://doi.org/10.1016/j.gim.2022.01.323
Autor:
Minjie Luo, Suzanne Macfarland, Kristin Zelley, Fumin Lin, Daniel Gallo, Jinhua Wu, Jeffery Schubert, Elizabeth Denenberg, Elizabeth Fanning, Jiani Chen, Hou-sung Jung, Laura Conlin, Gerald Wertheim, Yiming Zhong, Lea Surrey, Garrett Brodeur, Marilyn Li
Publikováno v:
Cancer Genetics. :10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a5ec486f53394af08ef817b317bd75c
https://doi.org/10.1016/j.cancergen.2021.05.042
https://doi.org/10.1016/j.cancergen.2021.05.042
Autor:
Alan L. Mendelsohn, Suzanne MacFarland, Karina L. Vivar, Benard P. Dreyer, H. Shonna Yin, Linda van Schaick
Publikováno v:
Academic pediatrics. 12(2)
Although low parent health literacy (HL) has been linked to poor child health outcomes, it is not known whether differences in perceptions related to access to care and provider-parent partnership in care are potential contributing factors. We sought
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2dfcdea65451b1f9eb7350040424ed3
https://pubmed.ncbi.nlm.nih.gov/22321814
https://pubmed.ncbi.nlm.nih.gov/22321814