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Items: 18


The ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development.

Hoffmeister M, Prelle C, Küchler P, Kovacevic I, Moser M, Müller-Esterl W, Oess S.

PLoS One. 2014 Dec 29;9(12):e116150. doi: 10.1371/journal.pone.0116150.


Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice.

Billington CJ Jr, Schmidt B, Marcucio RS, Hallgrimsson B, Gopalakrishnan R, Petryk A.

Dis Model Mech. 2015 Feb;8(2):139-46. doi: 10.1242/dmm.018275.


Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.

Petryk A, Graf D, Marcucio R.

Wiley Interdiscip Rev Dev Biol. 2015 Jan-Feb;4(1):17-32. doi: 10.1002/wdev.161. Review.


Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function.

Seppala M, Xavier GM, Fan CM, Cobourne MT.

Biol Open. 2014 Jul 25;3(8):728-40. doi: 10.1242/bio.20147989.


Cubilin, a high affinity receptor for fibroblast growth factor 8, is required for cell survival in the developing vertebrate head.

Cases O, Perea-Gomez A, Aguiar DP, Nykjaer A, Amsellem S, Chandellier J, Umbhauer M, Cereghini S, Madsen M, Collignon J, Verroust P, Riou JF, Creuzet SE, Kozyraki R.

J Biol Chem. 2013 Jun 7;288(23):16655-70. doi: 10.1074/jbc.M113.451070.


NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V.

Dis Model Mech. 2013 Mar;6(2):537-43. doi: 10.1242/dmm.010132.


Proceedings of the 2012 National Toxicology Program Satellite Symposium.

Elmore SA, Berridge BR, Boyle MC, Cora MC, Hoenerhoff MJ, Kooistra L, Laast VA, Morrison JP, Rao D, Rinke M, Yoshizawa K.

Toxicol Pathol. 2013 Feb;41(2):151-80. doi: 10.1177/0192623312467102.


Holoprosencephaly: two case reports.

Poenaru MO, Vilcea ID, Marin A.

Maedica (Buchar). 2012 Jan;7(1):58-62.


Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Srivastava K, Hu P, Solomon BD, Ming JE, Roessler E, Muenke M.

Mol Genet Metab. 2012 Jun;106(2):241-3. doi: 10.1016/j.ymgme.2012.03.008.


Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D.

Brain. 2012 May;135(Pt 5):1370-86. doi: 10.1093/brain/aws065.


Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.

Zhao L, Zevallos SE, Rizzoti K, Jeong Y, Lovell-Badge R, Epstein DJ.

Dev Cell. 2012 Mar 13;22(3):585-96. doi: 10.1016/j.devcel.2011.12.023.


Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.

Taniguchi K, Anderson AE, Sutherland AE, Wotton D.

PLoS Genet. 2012;8(2):e1002524. doi: 10.1371/journal.pgen.1002524.


Signaling by SHH rescues facial defects following blockade in the brain.

Chong HJ, Young NM, Hu D, Jeong J, McMahon AP, Hallgrimsson B, Marcucio RS.

Dev Dyn. 2012 Feb;241(2):247-56. doi: 10.1002/dvdy.23726.


The visual system of zebrafish and its use to model human ocular diseases.

Gestri G, Link BA, Neuhauss SC.

Dev Neurobiol. 2012 Mar;72(3):302-27. doi: 10.1002/dneu.20919. Review.


Boc modifies the holoprosencephaly spectrum of Cdo mutant mice.

Zhang W, Hong M, Bae GU, Kang JS, Krauss RS.

Dis Model Mech. 2011 May;4(3):368-80. doi: 10.1242/dmm.005744.


Genesis of teratogen-induced holoprosencephaly in mice.

Lipinski RJ, Godin EA, O'leary-Moore SK, Parnell SE, Sulik KK.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):29-42. doi: 10.1002/ajmg.c.30239. Review.


Diffusion imaging and tractography of congenital brain malformations.

Wahl M, Barkovich AJ, Mukherjee P.

Pediatr Radiol. 2010 Jan;40(1):59-67. doi: 10.1007/s00247-009-1448-6. Review.

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