Search Results - "SCRIVER, Tara"
-
1
No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
Published in Clinical case reports (01-05-2023)“…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…”
Get full text
Journal Article -
2
Erlotinib, Gefitinib, and Vandetanib Inhibit Human Nucleoside Transporters and Protect Cancer Cells from Gemcitabine Cytotoxicity
Published in Clinical cancer research (2014)“…Combinations of tyrosine kinase inhibitors (TKI) with gemcitabine have been attempted with little added benefit to patients. We hypothesized that TKIs designed…”
Get full text
Journal Article -
3
A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome
Published in American journal of medical genetics. Part A (01-05-2017)“…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…”
Get full text
Journal Article -
4
Effects of gefitinib and vandetanib on human equilibrative nucleoside transporter 1 and on gemcitabine cytotoxicity
Published in Journal of clinical oncology (20-05-2013)“…Abstract only 2546 Background: Combination chemotherapy with tyrosine kinase inhibitors (TKIs) and gemcitabine has been attempted with little added benefit to…”
Get full text
Journal Article