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Links from Nucleotide

Items: 6

1.
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
AbstractArticlePDF–402K
2.
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
AbstractArticlePDF–2.0M
3.
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
AbstractArticle
4.
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
AbstractArticlePDF–733K
5.
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
AbstractArticlePDF–7.5M
6.
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
AbstractArticlePDF–184K

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