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Items: 1 to 20 of 100

1.

Pathogenesis of holoprosencephaly.

Geng X, Oliver G.

J Clin Invest. 2009 Jun;119(6):1403-13. doi: 10.1172/JCI38937. Epub 2009 Jun 1. Review.

2.

Murine models of holoprosencephaly.

Schachter KA, Krauss RS.

Curr Top Dev Biol. 2008;84:139-70. doi: 10.1016/S0070-2153(08)00603-0. Review.

PMID:
19186244
3.

Embryogenesis of holoprosencephaly.

Shiota K, Yamada S, Komada M, Ishibashi M.

Am J Med Genet A. 2007 Dec 15;143A(24):3079-87. Review.

PMID:
17963261
4.

The morphogen signaling network in forebrain development and holoprosencephaly.

Monuki ES.

J Neuropathol Exp Neurol. 2007 Jul;66(7):566-75. Review.

PMID:
17620982
5.

Early pathogenesis of holoprosencephaly.

Shiota K, Yamada S.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):22-8. doi: 10.1002/ajmg.c.30248. Review.

PMID:
20104600
6.

Embryonic holoprosencephaly: pathology and phenotypic variability.

Yamada S.

Congenit Anom (Kyoto). 2006 Dec;46(4):164-71. Review.

PMID:
17096815
7.

Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.

Hong M, Krauss RS.

PLoS One. 2013 Nov 11;8(11):e79269. doi: 10.1371/journal.pone.0079269. eCollection 2013.

8.

Holoprosencephaly: the Maastricht experience.

Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP.

Genet Couns. 2001;12(3):287-98.

PMID:
11693794
9.

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M.

Clin Genet. 1998 Mar;53(3):155-63. Review.

PMID:
9630065
10.
11.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M.

J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2.

12.

Mutations in holoprosencephaly.

Wallis D, Muenke M.

Hum Mutat. 2000;16(2):99-108. Review.

PMID:
10923031
13.

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. Epub 2014 Oct 22. Review.

14.

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S.

J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22.

15.

The molecular genetics of holoprosencephaly.

Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236. Review.

16.

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Singh S, Tokhunts R, Baubet V, Goetz JA, Huang ZJ, Schilling NS, Black KE, MacKenzie TA, Dahmane N, Robbins DJ.

Hum Genet. 2009 Feb;125(1):95-103. doi: 10.1007/s00439-008-0599-0. Epub 2008 Dec 5.

17.

Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.

Tasdemir S, Sahin I, Cayır A, Doneray H, Solomon BD, Muenke M, Yuce I, Tatar A.

J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):777-81. doi: 10.1515/jpem-2013-0449.

PMID:
24706429
18.

Mouse models of holoprosencephaly.

Hayhurst M, McConnell SK.

Curr Opin Neurol. 2003 Apr;16(2):135-41. Review.

PMID:
12644739
19.

Neuropathology of holoprosencephaly.

Marcorelles P, Laquerriere A.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. Review.

PMID:
20104606
20.

The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces.

Fernandes M, Hébert JM.

Clin Genet. 2008 May;73(5):413-23. doi: 10.1111/j.1399-0004.2008.00994.x. Epub 2008 Apr 2. Review.

PMID:
18394003

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