Výsledky vyhledávání - "Tara Scriver"

Akademický článek

No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B

Autor: Iman Ibrahim, Tara Scriver, Shuaa A. Basalom

Publikováno v: Clinical Case Reports, Vol 11, Iss 5, Pp n/a-n/a (2023)

Key Clinical Message Multiple genetic disorders can coexist in one patient. When the phenotype is not fully explained with one diagnosis, it is recommended to perform further genetic investigations in search for coexisting second diagnosis. Abstract

Externí odkaz: https://doaj.org/article/6cb808d2a81846b491d772aa04e3702e

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A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

Autor: Tara Scriver, Rikash Jokhan, Jeremy R. Parr, Barbara Kellam, Edmond G. Lemire, Worrawat Engchuan, Stephen W. Scherer, Mehdi Zarrei, Dimitri J. Stavropoulos, Daniele Merico, Michael D. Wilson

Publikováno v: American Journal of Medical Genetics Part A. 173:1287-1293

We present an 18-year-old boy with cerebral palsy, intellectual disability, speech delay, and seizures. He carries a likely pathogenic 1.3 Mb de novo heterozygous deletion in the 4q21.22 microdeletion syndrome region. He also carries a 436 kb materna

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe85379389ed65172992c174f9d7a5df
https://doi.org/10.1002/ajmg.a.38176

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Erlotinib, Gefitinib, and Vandetanib Inhibit Human Nucleoside Transporters and Protect Cancer Cells from Gemcitabine Cytotoxicity

Autor: Michelle Kuzma, Anderson J. Ryan, Carol E. Cass, Tara Scriver, Delores Mowles, Michael B. Sawyer, Vijaya L. Damaraju

Publikováno v: Clinical Cancer Research. 20:176-186

Purpose: Combinations of tyrosine kinase inhibitors (TKI) with gemcitabine have been attempted with little added benefit to patients. We hypothesized that TKIs designed to bind to ATP-binding pockets of growth factor receptors also bind to transporte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61aff54f02549dec30791b53889f025d
https://doi.org/10.1158/1078-0432.ccr-13-2293

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Effects of gefitinib and vandetanib on human equilibrative nucleoside transporter 1 and on gemcitabine cytotoxicity

Autor: Carol E. Cass, Vijaya L. Damaraju, Michael B. Sawyer, Tara Scriver, Delores Mowles

Publikováno v: Journal of Clinical Oncology. 31:2546-2546

2546 Background: Combination chemotherapy with tyrosine kinase inhibitors (TKIs) and gemcitabine has been attempted with little added benefit to patients. We hypothesized that TKIs that were designed to bind to ATP pockets of growth factor tyrosine k

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b176c6f7967c673190a577174dcbe6a0
https://doi.org/10.1200/jco.2013.31.15_suppl.2546

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