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Items: 1 to 20 of 184

1.

EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally.

Abe Y, Oka A, Mizuguchi M, Igarashi T, Ishikawa S, Aburatani H, Yokoyama S, Asahara H, Nagao K, Yamada M, Miyashita T.

Hum Mutat. 2009 Oct;30(10):E946-55. doi: 10.1002/humu.21094.

PMID:
19606496
2.
3.

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
4.

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
5.

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
6.

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG.

Hum Genet. 2010 Apr;127(4):421-40. doi: 10.1007/s00439-009-0778-7.

PMID:
20066439
7.

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
8.

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
9.

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.

Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S.

Eur J Hum Genet. 2000 Oct;8(10):797-800.

10.

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.

Geng X, Speirs C, Lagutin O, Inbal A, Liu W, Solnica-Krezel L, Jeong Y, Epstein DJ, Oliver G.

Dev Cell. 2008 Aug;15(2):236-47. doi: 10.1016/j.devcel.2008.07.003.

11.

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.

12.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.

J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2.

13.

Six3 and Six6 activity is modulated by members of the groucho family.

López-Ríos J, Tessmar K, Loosli F, Wittbrodt J, Bovolenta P.

Development. 2003 Jan;130(1):185-95.

14.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.

Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9.

15.

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B.

Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12.

16.

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.

17.

Autoregulatory binding sites in the zebrafish six3a promoter region define a new recognition sequence for Six3 proteins.

Suh CS, Ellingsen S, Austbø L, Zhao XF, Seo HC, Fjose A.

FEBS J. 2010 Apr;277(7):1761-75. doi: 10.1111/j.1742-4658.2010.07599.x. Epub 2010 Feb 24.

18.

SIX3 mutations with holoprosencephaly.

Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A.

Am J Med Genet A. 2006 Dec 1;140(23):2577-83.

PMID:
17001667
19.

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

Schönberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE.

Nat Genet. 2005 Apr;37(4):418-22. Epub 2005 Feb 27.

PMID:
15735644
20.

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Jeong Y, Leskow FC, El-Jaick K, Roessler E, Muenke M, Yocum A, Dubourg C, Li X, Geng X, Oliver G, Epstein DJ.

Nat Genet. 2008 Nov;40(11):1348-53. doi: 10.1038/ng.230. Epub 2008 Oct 5.

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