PMC Articles for MedGen (Select 1790509) - PMC

Maria Addis, Cristiana Meloni, Enrica Tosetto, Monica Ceol, Rosalba Cristofaro, Maria Antonietta Melis, Paolo Vercelloni, Dorella Del Prete, Giuseppina Marra, Franca Anglani

Eur J Hum Genet. 2013 Jun; 21(6): 687–690. Published online 2012 Oct 10. doi: 10.1038/ejhg.2012.225

PMCID:: PMC3658198

Abstract Article PDF–652K

Select item 36413844.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins, Anna Hackett, Fiona McKenzie, Artur Darmanian, Gregory B Peters, Kerry Fagan, John Christodoulou

Eur J Hum Genet. 2013 May; 21(5): 522–527. Published online 2012 Sep 12. doi: 10.1038/ejhg.2012.208

PMCID:: PMC3641384

Abstract Article PDF–512K

Select item 35620795.

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

Nadia Bahi-Buisson, Isabelle Souville, Franck J. Fourniol, Aurelie Toussaint, Carolyn A. Moores, Anne Houdusse, Jean Yves Lemaitre, Karine Poirier, Reham Khalaf-Nazzal, Marie Hully, Pierre Louis Leger, Caroline Elie, Nathalie Boddaert, Cherif Beldjord, Jamel Chelly, Fiona Francis, SBH-LIS European Consortium

Brain. 2013 Jan; 136(1): 223–244. Published online 2013 Jan 28. doi: 10.1093/brain/aws323

PMCID:: PMC3562079

Abstract Article PDF–972K

Select item 35528656.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Dries Dobbelaere, Jean-Marie Cuisset, Laurence Lion-François, Vincent Des Portes, Allel Chabli, Vassili Valayannopoulos, Jean-François Benoist, Jean-Marc Pinard, Gilles Simard, Olivier Douay, Kumaran Deiva, Alexandra Afenjar, Delphine Héron, François Rivier, Brigitte Chabrol, Fabienne Prieur, François Cartault, Gaëlle Pitelet, Alice Goldenberg, Soumeya Bekri, Marion Gerard, Richard Delorme, Marc Tardieu, Nicole Porchet, Christine Vianey-Saban, Joseph Vamecq

Orphanet J Rare Dis. 2012; 7: 96. Published online 2012 Dec 13. doi: 10.1186/1750-1172-7-96

PMCID:: PMC3552865

Abstract Article PDF–253K

Select item 35482567.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Orianne Philippe, Marlène Rio, Valérie Malan, Hilde Van Esch, Geneviève Baujat, Nadia Bahi-Buisson, Vassili Valayannopoulos, Roseline Gesny, Jean-Paul Bonnefont, Arnold Munnich, Guy Froyen, Jeanne Amiel, Nathalie Boddaert, Laurence Colleaux

Eur J Hum Genet. 2013 Feb; 21(2): 195–199. Published online 2012 Jul 18. doi: 10.1038/ejhg.2012.140

PMCID:: PMC3548256

Abstract Article PDF–1.0M

Select item 35368188.

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

Kamal KE Gadalla, Mark ES Bailey, Rosemary C Spike, Paul D Ross, Kenton T Woodard, Sahana Nagabhushan Kalburgi, Lavanya Bachaboina, Jie V Deng, Anne E West, R Jude Samulski, Steven J Gray, Stuart R Cobb

Mol Ther. 2013 Jan; 21(1): 18–30. Published online 2012 Sep 25. doi: 10.1038/mt.2012.200

PMCID:: PMC3536818

Abstract Article PDF–1.0M

Select item 35340829.

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

PLoS One. 2012; 7(12): e52635. Published online 2012 Dec 31. doi: 10.1371/journal.pone.0052635

PMCID:: PMC3534082

Abstract Article PDF–676K

Select item 353354310.

Compromised genomic integrity impedes muscle growth after Atrx inactivation

Michael S. Huh, Tina Price O’Dea, Dahmane Ouazia, Bruce C. McKay, Gianni Parise, Robin J. Parks, Michael A. Rudnicki, David J. Picketts

J Clin Invest. 2012 Dec 3; 122(12): 4412–4423. Published online 2012 Nov 1. doi: 10.1172/JCI63765

PMCID:: PMC3533543

Abstract Article PDF–4.7M

Select item 352435311.

Somatic expansion in mouse and human carriers of Fragile X premutation alleles

Rachel Adihe Lokanga, Ali Entezam, Daman Kumari, Dmitry Yudkin, Mei Qin, Carolyn Beebe Smith, Karen Usdin

Hum Mutat. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 157–166. Published online 2012 Oct 4. doi: 10.1002/humu.22177

PMCID:: PMC3524353

Abstract Article PDF–1.9M

Select item 350395512.

Cerebrospinal Fluid Matrix Metalloproteinases Are Elevated in Cerebral Adrenoleukodystrophy and Correlate with MRI Severity and Neurologic Dysfunction

Kathryn A. Thibert, Gerald V. Raymond, David R. Nascene, Weston P. Miller, Jakub Tolar, Paul J. Orchard, Troy C. Lund

PLoS One. 2012; 7(11): e50430. Published online 2012 Nov 21. doi: 10.1371/journal.pone.0050430

PMCID:: PMC3503955

Abstract Article PDF–302K

Select item 348294113.

Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

Jan S. Greenberg, Marsha Mailick Seltzer, Jason K. Baker, Leann E. Smith, Steven F. Warren, Nancy Brady, Jinkuk Hong

Am J Intellect Dev Disabil. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Am J Intellect Dev Disabil. 2012 Jul; 117(4): 331–346. doi: 10.1352/1944-7558-117.4.331

Correction in:: volume 117 on page 2 p preceding 349

PMCID:: PMC3482941

Abstract Article PDF–316K

Select item 347751514.

Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease

David S. Goldstein, Courtney S. Holmes, Stephen G. Kaler

Neurochem Res. Author manuscript; available in PMC 2012 Oct 21.

Published in final edited form as: Neurochem Res. 2009 Aug; 34(8): 1464–1468. Published online 2009 Feb 21. doi: 10.1007/s11064-009-9933-8

PMCID:: PMC3477515

Abstract Article PDF–1.1M

Select item 345947015.

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Kyoko Takano, Dan Liu, Patrick Tarpey, Esther Gallant, Alex Lam, Shawn Witham, Emil Alexov, Alka Chaubey, Roger E. Stevenson, Charles E. Schwartz, Philip G. Board, Angela F. Dulhunty

Hum Mol Genet. 2012 Oct 15; 21(20): 4497–4507. Published online 2012 Jul 19. doi: 10.1093/hmg/dds292

PMCID:: PMC3459470

Abstract Article PDF–385K

Select item 345906116.

Arf6-GEF BRAG1 Regulates JNK-Mediated Synaptic Removal of GluA1-Containing AMPA Receptors: A New Mechanism for Nonsyndromic X-Linked Mental Disorder

Kenneth R. Myers, Guangfu Wang, Yanghui Sheng, Kathryn K. Conger, James E. Casanova, J. Julius Zhu

J Neurosci. 2012 Aug 22; 32(34): 11716–11726. doi: 10.1523/JNEUROSCI.1942-12.2012

PMCID:: PMC3459061

Abstract Article PDF–2.7M

Select item 370255217.

Loss of Usp9x Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis

Shane Stegeman, Lachlan A. Jolly, Susitha Premarathne, Jozef Gecz, Linda J. Richards, Alan Mackay-Sim, Stephen A. Wood

PLoS One. 2013; 8(7): e68287. Published online 2013 Jul 5. doi: 10.1371/journal.pone.0068287

PMCID:: PMC3702552

Abstract Article PDF–3.8M

Select item 344112918.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder

Kajari Mondal, Dhanya Ramachandran, Viren C. Patel, Katie R. Hagen, Promita Bose, David J. Cutler, Michael E. Zwick

Hum Mol Genet. 2012 Oct 1; 21(19): 4356–4364. Published online 2012 Jul 5. doi: 10.1093/hmg/dds267

PMCID:: PMC3441129

Abstract Article PDF–245K

Select item 344112319.

Activation of the stress proteome as a mechanism for small molecule therapeutics

Rebecca Deering Brose, Gloria Shin, Martina C. McGuinness, Tonya Schneidereith, Shirley Purvis, Gao X. Dong, Jeffrey Keefer, Forrest Spencer, Kirby D. Smith

Hum Mol Genet. 2012 Oct 1; 21(19): 4237–4252. Published online 2012 Jul 2. doi: 10.1093/hmg/dds247

PMCID:: PMC3441123

Abstract Article PDF–668K

Select item 342706920.

Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease

Owen M. Siggs, Justin T. Cruite, Xin Du, Sophie Rutschmann, Eliezer Masliah, Bruce Beutler, Michael B. A. Oldstone

Proc Natl Acad Sci U S A. 2012 Aug 21; 109(34): 13733–13738. Published online 2012 Aug 6. doi: 10.1073/pnas.1211499109

PMCID:: PMC3427069

Abstract Article PDF–1.0M

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