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Items: 1 to 20 of 57

1.

Hard to swallow: Developmental biological insights into pediatric dysphagia.

LaMantia AS, Moody SA, Maynard TM, Karpinski BA, Zohn IE, Mendelowitz D, Lee NH, Popratiloff A.

Dev Biol. 2016 Jan 15;409(2):329-42. doi: 10.1016/j.ydbio.2015.09.024. Epub 2015 Nov 7. Review.

PMID:
26554723
2.

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE.

Am J Hum Genet. 2015 Feb 5;96(2):235-44. doi: 10.1016/j.ajhg.2014.12.025.

3.

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Miller KA, Tan TY, Welfare MF, White SM, Stark Z, Savarirayan R, Burgess T, Heggie AA, Caruana G, Bertram JF, Bateman JF, Farlie PG.

Mol Syndromol. 2014 Dec;5(6):276-86. doi: 10.1159/000368865. Epub 2014 Nov 8.

4.

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.

Fuchs JC, Linden JF, Baldini A, Tucker AS.

Hum Mol Genet. 2015 Apr 1;24(7):1869-82. doi: 10.1093/hmg/ddu604. Epub 2014 Dec 1.

5.

Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.

Opitz R, Hitz MP, Vandernoot I, Trubiroha A, Abu-Khudir R, Samuels M, Désilets V, Costagliola S, Andelfinger G, Deladoëy J.

Endocrinology. 2015 Jan;156(1):377-88. doi: 10.1210/en.2014-1628.

6.

Evolutionary and developmental origins of the cardiac neural crest: building a divided outflow tract.

Keyte AL, Alonzo-Johnsen M, Hutson MR.

Birth Defects Res C Embryo Today. 2014 Sep;102(3):309-23. doi: 10.1002/bdrc.21076. Epub 2014 Sep 16. Review.

7.

Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.

Xu YJ, Chen S, Zhang J, Fang SH, Guo QQ, Wang J, Fu QH, Li F, Xu R, Sun K.

BMC Med Genet. 2014 Jul 6;15:78. doi: 10.1186/1471-2350-15-78.

8.

Tbx1 modulates endodermal and mesodermal differentiation from mouse induced pluripotent stem cells.

Yan Y, Su M, Song Y, Tang Y, Tian XC, Rood D, Lai L.

Stem Cells Dev. 2014 Jul 1;23(13):1491-500. doi: 10.1089/scd.2013.0488. Epub 2014 Apr 2.

9.

Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders.

Fragoso YD, Stoney PN, Shearer KD, Sementilli A, Nanescu SE, Sementilli P, McCaffery P.

Brain Struct Funct. 2015 Mar;220(2):1195-203. doi: 10.1007/s00429-014-0712-1. Epub 2014 Feb 12.

10.

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

Karpinski BA, Maynard TM, Fralish MS, Nuwayhid S, Zohn IE, Moody SA, LaMantia AS.

Dis Model Mech. 2014 Feb;7(2):245-57. doi: 10.1242/dmm.012484. Epub 2013 Dec 19.

11.

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Davies EG.

Front Immunol. 2013 Oct 31;4:322. doi: 10.3389/fimmu.2013.00322. Review.

12.

The adaptor protein Crk in immune response.

Liu D.

Immunol Cell Biol. 2014 Jan;92(1):80-9. doi: 10.1038/icb.2013.64. Epub 2013 Oct 29. Review.

13.

The retinaldehyde reductase DHRS3 is essential for preventing the formation of excess retinoic acid during embryonic development.

Billings SE, Pierzchalski K, Butler Tjaden NE, Pang XY, Trainor PA, Kane MA, Moise AR.

FASEB J. 2013 Dec;27(12):4877-89. doi: 10.1096/fj.13-227967. Epub 2013 Sep 4.

14.

Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

Gao S, Li X, Amendt BA.

Curr Allergy Asthma Rep. 2013 Dec;13(6):613-21. doi: 10.1007/s11882-013-0384-6. Review.

15.

Of mice and men: molecular genetics of congenital heart disease.

Andersen TA, Troelsen Kde L, Larsen LA.

Cell Mol Life Sci. 2014 Apr;71(8):1327-52. doi: 10.1007/s00018-013-1430-1. Epub 2013 Aug 10. Review.

16.

Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.

de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NS.

Clin Immunol. 2013 Apr;147(1):11-22. doi: 10.1016/j.clim.2013.01.011. Epub 2013 Jan 30.

17.

Genotype-phenotype correlation in 22q11.2 deletion syndrome.

Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D.

BMC Med Genet. 2012 Dec 17;13:122. doi: 10.1186/1471-2350-13-122.

18.

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

Maynard TM, Gopalakrishna D, Meechan DW, Paronett EM, Newbern JM, LaMantia AS.

Hum Mol Genet. 2013 Jan 15;22(2):300-12. doi: 10.1093/hmg/dds429. Epub 2012 Oct 16.

19.

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.

Simrick S, Szumska D, Gardiner JR, Jones K, Sagar K, Morrow B, Bhattacharya S, Basson MA.

Dev Dyn. 2012 Aug;241(8):1310-24. doi: 10.1002/dvdy.23812. Epub 2012 Jun 26.

20.

The neural crest in cardiac congenital anomalies.

Keyte A, Hutson MR.

Differentiation. 2012 Jul;84(1):25-40. doi: 10.1016/j.diff.2012.04.005. Epub 2012 May 15. Review.

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