PMC Links for OMIM (Select 312173) - PMC

Select item 55479131.

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

Kim De Keersmaecker, Zeynep Kalender Atak, Ning Li, Carmen Vicente, Stephanie Patchett, Tiziana Girardi, Valentina Gianfelici, Ellen Geerdens, Emmanuelle Clappier, Michaël Porcu, Idoya Lahortiga, Rossella Lucà, Jiekun Yan, Gert Hulselmans, Hilde Vranckx, Roel Vandepoel, Bram Sweron, Kris Jacobs, Nicole Mentens, Iwona Wlodarska, Barbara Cauwelier, Jacqueline Cloos, Jean Soulier, Anne Uyttebroeck, Claudia Bagni, Bassem A Hassan, Peter Vandenberghe, Arlen W Johnson, Stein Aerts, Jan Cools

Nat Genet. Author manuscript; available in PMC 2017 Aug 8.

Published in final edited form as: Nat Genet. 2013 Feb; 45(2): 186–190. Published online 2012 Dec 23. doi: 10.1038/ng.2508

PMCID:: PMC5547913

Abstract Article PDF–2.2M

Select item 41966232.

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

Susan S. Brooks, Alissa L. Wall, Christelle Golzio, David W. Reid, Amalia Kondyles, Jason R. Willer, Christina Botti, Christopher V. Nicchitta, Nicholas Katsanis, Erica E. Davis

Genetics. 2014 Oct; 198(2): 723–733. Published online 2014 Oct 1. doi: 10.1534/genetics.114.168211

PMCID:: PMC4196623

Abstract Article PDF–8.5M

Select item 26453813.

An investigation of ribosomal protein L10 gene in autism spectrum disorders

Xiaohong Gong, Richard Delorme, Fabien Fauchereau, Christelle M Durand, Pauline Chaste, Catalina Betancur, Hany Goubran-Botros, Gudrun Nygren, Henrik Anckarsäter, Maria Rastam, I Carina Gillberg, Svenny Kopp, Marie-Christine Mouren-Simeoni, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron

BMC Med Genet. 2009; 10: 7. Published online 2009 Jan 23. doi: 10.1186/1471-2350-10-7

PMCID:: PMC2645381

Abstract Article PDF–885K

Select item 3289884.

The isolation and characterization of a novel cDNA demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells.

S F Dowdy, K M Lai, B E Weissman, Y Matsui, B L Hogan, E J Stanbridge

Nucleic Acids Res. 1991 Oct 25; 19(20): 5763–5769. doi: 10.1093/nar/19.20.5763

PMCID:: PMC328988

Summary Page Browse PDF–1.7M

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