PMC Links for Protein (Select 1315690812) - PMC

Select item 47463371.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack

Am J Hum Genet. 2016 Feb 4; 98(2): 358–362. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.009

PMCID:: PMC4746337

Abstract Article PDF–402K

Select item 45855282.

Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical Projection Neuron Generation

Elizabeth M. Paronett, Daniel W. Meechan, Beverly A. Karpinski, Anthony-Samuel LaMantia, Thomas M. Maynard

Cereb Cortex. 2015 Oct; 25(10): 3977–3993. Published online 2014 Dec 1. doi: 10.1093/cercor/bhu285

PMCID:: PMC4585528

Abstract Article PDF–2.0M

Select item 39172453.

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome

Beverly A. Karpinski, Thomas M. Maynard, Matthew S. Fralish, Samer Nuwayhid, Irene E. Zohn, Sally A. Moody, Anthony-S. LaMantia

Dis Model Mech. 2014 Feb; 7(2): 245–257. Published online 2013 Dec 19. doi: 10.1242/dmm.012484

PMCID:: PMC3917245

Abstract Article

Select item 35261614.

22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development

Thomas M. Maynard, Deepak Gopalakrishna, Daniel W. Meechan, Elizabeth M. Paronett, Jason M. Newbern, Anthony-Samuel LaMantia

Hum Mol Genet. 2013 Jan 15; 22(2): 300–312. Published online 2012 Oct 16. doi: 10.1093/hmg/dds429

PMCID:: PMC3526161

Abstract Article PDF–733K

Select item 27295125.

Mitochondral localization and function of a subset of 22q11 Deletion Syndrome candidate genes

T. M. Maynard, D. W. Meechan, M. L. Dudevoir, D. Gopalakrishna, A. Z. Peters, C. C. Heindel, T. J. Sugimoto, Y. Wu, J. A. Lieberman, A.-S. LaMantia

Mol Cell Neurosci. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Mol Cell Neurosci. 2008 Nov; 39(3): 439–451. Published online 2008 Aug 15. doi: 10.1016/j.mcn.2008.07.027

PMCID:: PMC2729512

Abstract Article PDF–7.5M

Select item 250696.

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Anne Puech, Bruno Saint-Jore, Birgit Funke, Debra J. Gilbert, Howard Sirotkin, Neal G. Copeland, Nancy A. Jenkins, Raju Kucherlapati, Bernice Morrow, Arthur I. Skoultchi

Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26): 14608–14613. doi: 10.1073/pnas.94.26.14608

PMCID:: PMC25069

Abstract Article PDF–184K

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