PMC Links for OMIM (Select 190151) - PMC

Select item 79545991.

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

Thuy-Linh Le, Louise Galmiche, Jonathan Levy, Pim Suwannarat, Debby M.E.I. Hellebrekers, Khomgrit Morarach, Franck Boismoreau, Tom E.J. Theunissen, Mathilde Lefebvre, Anna Pelet, Jelena Martinovic, Antoinette Gelot, Fabien Guimiot, Amanda Calleroz, Cyril Gitiaux, Marie Hully, Olivier Goulet, Christophe Chardot, Severine Drunat, Yline Capri, Christine Bole-Feysot, Patrick Nitschké, Sandra Whalen, Linda Mouthon, Holly E. Babcock, Robert Hofstra, Irenaeus F.M. de Coo, Anne-Claude Tabet, Thierry J. Molina, Boris Keren, Alice Brooks, Hubert J.M. Smeets, Ulrika Marklund, Christopher T. Gordon, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand

J Clin Invest. 2021 Mar 15; 131(6): e145837. Published online 2021 Mar 15. doi: 10.1172/JCI145837

PMCID:: PMC7954599

Abstract Article PDF–24M

Select item 50930222.

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

Evan M. Braunstein, Ruijuan Li, Nara Sobreira, Beth Marosy, Kurt Hetrick, Kim Doheny, Christopher D. Gocke, David Valle, Robert A. Brodsky, Linzhao Cheng

Leukemia. Author manuscript; available in PMC 2016 Dec 15.

Published in final edited form as: Leukemia. 2016 Nov; 30(11): 2242–2245. Published online 2016 Jun 15. doi: 10.1038/leu.2016.173

PMCID:: PMC5093022

Article PDF–905K

Select item 41656133.

A Critical Period for Social Experience–Dependent Oligodendrocyte Maturation and Myelination

Manabu Makinodan, Kenneth M. Rosen, Susumu Ito, Gabriel Corfas

Science. Author manuscript; available in PMC 2014 Sep 16.

Published in final edited form as: Science. 2012 Sep 14; 337(6100): 1357–1360. doi: 10.1126/science.1220845

PMCID:: PMC4165613

Article PDF–1.5M

Select item 27192884.

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The Wellcome Trust Case Control Consortium

Nature. Author manuscript; available in PMC 2009 Jul 31.

Published in final edited form as: Nature. 2007 Jun 7; 447(7145): 661–678. doi: 10.1038/nature05911

PMCID:: PMC2719288

Abstract Article PDF–2.1M

Select item 26355565.

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes loci

Jason D Cooper, Deborah J Smyth, Adam M Smiles, Vincent Plagnol, Neil M Walker, James Allen, Kate Downes, Jeffrey C Barrett, Barry Healy, Josyf C Mychaleckyj, James H Warram, John A Todd

Nat Genet. Author manuscript; available in PMC 2009 Jun 1.

Published in final edited form as: Nat Genet. 2008 Dec; 40(12): 1399–1401. Published online 2008 Nov 2. doi: 10.1038/ng.249

PMCID:: PMC2635556

Abstract Article PDF–273K

Select item 24923936.

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

John A Todd, Neil M Walker, Jason D Cooper, Deborah J Smyth, Kate Downes, Vincent Plagnol, Rebecca Bailey, Sergey Nejentsev, Sarah F Field, Felicity Payne, Christopher E Lowe, Jeffrey S Szeszko, Jason P Hafler, Lauren Zeitels, Jennie H M Yang, Adrian Vella, Sarah Nutland, Helen E Stevens, Helen Schuilenburg, Gillian Coleman, Meeta Maisuria, William Meadows, Luc J Smink, Barry Healy, Oliver S Burren, Alex A C Lam, Nigel R Ovington, James Allen, Ellen Adlem, Hin-Tak Leung, Chris Wallace, Joanna M M Howson, Cristian Guja, Constantin Ionescu-Tirgoviste, GET1FIN, Matthew J Simmonds, Joanne M Heward, Stephen CL Gough, The Wellcome Trust Case Control Consortium, David B Dunger, Linda S Wicker, David G Clayton

Nat Genet. Author manuscript; available in PMC 2008 Jul 31.

Published in final edited form as: Nat Genet. 2007 Jul; 39(7): 857–864. Published online 2007 Jun 6. doi: 10.1038/ng2068