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Results: 1 to 20 of 215

1.

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ.

Nat Genet. 2000 Jun;25(2):205-8.

PMID:
10835638
[PubMed - indexed for MEDLINE]
2.

Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism.

Gongal PA, Waskiewicz AJ.

Hum Mol Genet. 2008 Feb 15;17(4):525-38. Epub 2007 Nov 12.

PMID:
17998248
[PubMed - indexed for MEDLINE]
Free Article
3.
4.

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. Epub 2012 Feb 23.

PMID:
22383895
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The Smad transcriptional corepressor TGIF recruits mSin3.

Wotton D, Knoepfler PS, Laherty CD, Eisenman RN, Massagué J.

Cell Growth Differ. 2001 Sep;12(9):457-63.

PMID:
11571228
[PubMed - indexed for MEDLINE]
Free Article
6.

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V.

Hum Mutat. 2004 Jul;24(1):43-51.

PMID:
15221788
[PubMed - indexed for MEDLINE]
7.

Direct action of the nodal-related signal cyclops in induction of sonic hedgehog in the ventral midline of the CNS.

Müller F, Albert S, Blader P, Fischer N, Hallonet M, Strähle U.

Development. 2000 Sep;127(18):3889-97.

PMID:
10952887
[PubMed - indexed for MEDLINE]
Free Article
8.

Holoprosencephaly: molecular study of a California population.

Nanni L, Croen LA, Lammer EJ, Muenke M.

Am J Med Genet. 2000 Feb 14;90(4):315-9.

PMID:
10710230
[PubMed - indexed for MEDLINE]
9.

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.

Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V.

Hum Genet. 2003 Feb;112(2):131-4. Epub 2002 Nov 21.

PMID:
12522553
[PubMed - indexed for MEDLINE]
10.

Molecular mechanisms of holoprosencephaly.

Wallis DE, Muenke M.

Mol Genet Metab. 1999 Oct;68(2):126-38. Review.

PMID:
10527664
[PubMed - indexed for MEDLINE]
11.
12.

Expression and functional analysis of Tgif during mouse midline development.

Jin JZ, Gu S, McKinney P, Ding J.

Dev Dyn. 2006 Feb;235(2):547-53.

PMID:
16284942
[PubMed - indexed for MEDLINE]
Free Article
13.

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V.

Hum Genet. 2006 Mar;119(1-2):1-8. Epub 2005 Dec 2.

PMID:
16323008
[PubMed - indexed for MEDLINE]
14.

Mouse models of holoprosencephaly.

Hayhurst M, McConnell SK.

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

PMID:
12644739
[PubMed - indexed for MEDLINE]
15.

Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.

Chen CP, Chern SR, Du SH, Wang W.

Prenat Diagn. 2002 Jan;22(1):5-7.

PMID:
11810641
[PubMed - indexed for MEDLINE]
16.

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.

Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M.

J Med Genet. 2006 Jun;43(6):496-500. Epub 2005 Sep 30.

PMID:
16199538
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
21940735
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

c-Jun interacts with the corepressor TG-interacting factor (TGIF) to suppress Smad2 transcriptional activity.

Pessah M, Prunier C, Marais J, Ferrand N, Mazars A, Lallemand F, Gauthier JM, Atfi A.

Proc Natl Acad Sci U S A. 2001 May 22;98(11):6198-203.

PMID:
11371641
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Intragenic deletion of Tgif causes defectsin brain development.

Kuang C, Xiao Y, Yang L, Chen Q, Wang Z, Conway SJ, Chen Y.

Hum Mol Genet. 2006 Dec 15;15(24):3508-19. Epub 2006 Nov 2.

PMID:
17082251
[PubMed - indexed for MEDLINE]
Free Article
20.

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M.

Nat Genet. 1999 Jun;22(2):196-8.

PMID:
10369266
[PubMed - indexed for MEDLINE]

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