Search

Your search keyword '"Zegar, Kelsey"' showing total 4 results
Start Over Author "Zegar, Kelsey"
4 results on '"Zegar, Kelsey"'

2. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Author

Lessel, Davor, primary, Schob, Claudia, additional, Küry, Sébastien, additional, Reijnders, Margot R.F., additional, Harel, Tamar, additional, Eldomery, Mohammad K., additional, Coban-Akdemir, Zeynep, additional, Denecke, Jonas, additional, Edvardson, Shimon, additional, Colin, Estelle, additional, Stegmann, Alexander P.A., additional, Gerkes, Erica H., additional, Tessarech, Marine, additional, Bonneau, Dominique, additional, Barth, Magalie, additional, Besnard, Thomas, additional, Cogné, Benjamin, additional, Revah-Politi, Anya, additional, Strom, Tim M., additional, Rosenfeld, Jill A., additional, Yang, Yaping, additional, Posey, Jennifer E., additional, Immken, LaDonna, additional, Oundjian, Nelly, additional, Helbig, Katherine L., additional, Meeks, Naomi, additional, Zegar, Kelsey, additional, Morton, Jenny, additional, Schieving, Jolanda H., additional, Claasen, Ana, additional, Huentelman, Matthew, additional, Narayanan, Vinodh, additional, Ramsey, Keri, additional, Brunner, Han G., additional, Elpeleg, Orly, additional, Mercier, Sandra, additional, Bézieau, Stéphane, additional, Kubisch, Christian, additional, Kleefstra, Tjitske, additional, Kindler, Stefan, additional, Lupski, James R., additional, and Kreienkamp, Hans-Jürgen, additional

Published
2017
Full Text
View/download PDF

3. A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.

Author

Lind, Katherine T., Cost, Nicholas G., Zegar, Kelsey, Kuldanek, Susan A., Enzenauer, Robert W., and Schneider, Kami W.

Subjects
NEPHROBLASTOMA, GENES, NONSENSE mutation, DELETION mutation, GENETIC disorders, CHILDREN with intellectual disabilities
Abstract

Introduction: Wilms tumor (WT) is the most common renal malignancy of children and can be seen in WAGR syndrome (WT, aniridia, genitourinary anomalies, and intellectual disability). WAGR results from a contiguous gene deletion within the 11p13 region, encompassing the WT1 gene, often responsible for WT development, and the PAX6 gene, responsible for aniridia. Aniridia, a pan-ocular disease resulting from iris hypoplasia, is thought to increase the risk for WT development if their genetic alteration spans both the WT1 and the PAX6 genes on 11p13. Case Description: We describe a unique case of a patient with aniridia secondary to a heterozygous PAX6 nonsense mutation who developed WT despite no additional identifiable germline genetic drivers for this disease. Discussion: Isolated mutations in PAX6 previously have not been associated with increased risk of WT development case raises the question of if surveillance for WT should be continued in patients with aniridia with an isolated PAX6 mutation identified. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

4. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Author

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, and Kreienkamp HJ

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results