PMC Links for GEO Profiles (Select 25941544) - PMC

Select item 47564761.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying S. Zou, Wen-Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steven A. Skinner, Curtis Rogers, David B. Everman, Ellen Boyd, Sureni V. Mullegama, Debra Keelean-Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

Mol Psychiatry. Author manuscript; available in PMC 2016 Feb 17.

Published in final edited form as: Mol Psychiatry. 2014 Mar; 19(3): 368–379. Published online 2013 Apr 16. doi: 10.1038/mp.2013.42

PMCID:: PMC4756476

Abstract Article PDF–1.4M

Select item 47552342.

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

Katherina Walz, Juan I Young

Rare Dis. 2014; 2(1): e967151. Published online 2014 Nov 3. doi: 10.4161/2167549X.2014.967151

PMCID:: PMC4755234

Abstract Article PDF–185K

Select item 38654023.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea

Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67

PMCID:: PMC3865402

Abstract Article PDF–843K

Select item 38310654.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Céline Bonnet, Asma Ali Khan, Emmanuel Bresso, Charlène Vigouroux, Mylène Béri, Sarah Lejczak, Bénédicte Deemer, Joris Andrieux, Christophe Philippe, Anne Moncla, Irina Giurgea, Marie-Dominique Devignes, Bruno Leheup, Philippe Jonveaux

Eur J Hum Genet. 2013 Dec; 21(12): 1457–1461. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.22

PMCID:: PMC3831065

Abstract Article PDF–1.2M

Select item 35287985.

The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

Holly N. Cukier, Joycelyn M. Lee, Deqiong Ma, Juan I. Young, Vera Mayo, Brittany L. Butler, Sandhya S. Ramsook, Joseph A. Rantus, Alexander J. Abrams, Patrice L. Whitehead, Harry H. Wright, Ruth K. Abramson, Jonathan L. Haines, Michael L. Cuccaro, Margaret A. Pericak-Vance, John R. Gilbert

Autism Res. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Autism Res. 2012 Dec; 5(6): 385–397. Published online 2012 Oct 10. doi: 10.1002/aur.1251