Zobrazeno 1 - 10 of 33 pro vyhledávání: '"Brittany C. Thomas"'
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Data from Origins and Prevalence of the American Founder Mutation of MSH2
Autor: Albert de la Chapelle, Heather Hampel, Henry T. Lynch, Stephen N. Thibodeau, Brittany C. Thomas, Gordon Gong, Jane F. Lynch, Molly Deacon, Ilene Comeras, Victoria Schunemann, Dan Fix, Sandya Liyanarachchi, Kyle Walsh, Shuying Sun, Mark E. Baze, Mark Clendenning
Large germline deletions within the mismatch repair gene MSH2 account for a significant proportion (up to 20%) of all deleterious mutations of this gene which are associated with Lynch syndrome. An exons 1 to 6 deletion of MSH2, originally reported i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c191f3329d9a72241f6091604193cc13
https://doi.org/10.1158/0008-5472.c.6496491.v1
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4
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
Autor: Sudhir S. Kushwaha, Sanskriti Shrivastava, Akanksha Mohananey, Naveen L. Pereira, Brittany C. Thomas, Teresa M. Kruisselbrink
Publikováno v: JACC Case Reports
Small patella syndrome presents with small or absent patellae and may result in pulmonary arterial hypertension, typically in children. A pathogenic canonical splice site variant, c.1021+1G>A in the T-box transcription factor 4 (TBX4) gene, currently
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de0b0a4bb30dc7ec34c24381d4527278
http://europepmc.org/articles/PMC8446047
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5
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Autor: Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C Chao, Elaine Chen, Jacob Clifford, Ana S Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A Kelly, Jacob M Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine M Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk
Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigated the rate of VUS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5d80f0f4b92e956df2d629d73bc45bef
https://doi.org/10.1101/2022.09.21.22279949
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7
Spindle cell rhabdomyosarcoma of bone withFUS-TFCP2fusion: confirmation of a very recently described rhabdomyosarcoma subtype
Autor: Kevin C. Halling, Asha Nair, Nooshi K. Dashti, William R. Sukov, Jan C. Buckner, Jaime I. Davila, Rebecca N. Wehrs, Andrew L. Folpe, Benjamin M. Howe, Brittany C. Thomas, Anthony P. Martinez
Publikováno v: Histopathology. 73:514-520
Aims Rhabdomyosarcomas of bone are extremely rare, with fewer than 10 reported cases. A very rare subtype of spindle cell/sclerosing rhabdomyosarcoma harbouring a FUS-TFCP2 fusion and involving both soft tissue and bone locations has been reported ve
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18cf98a1cc94f066aa58f91046198a42
https://doi.org/10.1111/his.13649
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8
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis
Autor: Joy M. Maharaj, Jennifer L. Kemppainen, Kristine M. Slaby, Brittany C. Thomas, Amanika Kumar, M. Weinhold, Casey L. Swanson, Kristin C. Mara, Myra J. Wick, Jamie N. Bakkum-Gamez
Publikováno v: Gynecologic Oncology. 149:121-126
Objective To increase genetic counseling referrals for patients with newly diagnosed epithelial ovarian cancer (EOC). Methods A practice-gap analysis was performed after measuring baseline genetic counseling referral rates to identify barriers to ref
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46dcecd7f5ed6e6ea161669038a3f8bf
https://doi.org/10.1016/j.ygyno.2018.01.033
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Plný text Recenzováno Digitální knihovna AV ČR
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