Similar articles for PMID: 19346217

Year	Number of Results
1994	1
1995	1
1996	1
1998	3
1999	5
2000	4
2001	3
2002	3
2003	6
2004	4
2005	3
2006	8
2007	6
2008	6
2009	7
2010	10
2011	7
2012	9
2013	2
2014	3
2015	2
2016	6
2017	4
2018	10
2020	1
2021	1
2024	0

1

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. Lacbawan F, et al. J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2. J Med Genet. 2009. PMID: 19346217 Free PMC article.

2

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. Mercier S, et al. J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940735 Free PMC article.

3

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. Paulussen AD, et al. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.

4

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. Domené S, et al. Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12. Hum Mol Genet. 2008. PMID: 18791198 Free PMC article.

5

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Stokes B, Berger SI, Hall BA, Weiss K, Martinez AF, Hadley DW, Murdock DR, Ramanathan S, Clark RD, Roessler E, Kruszka P, Muenke M. Stokes B, et al. Congenit Anom (Kyoto). 2018 Jan;58(1):29-32. doi: 10.1111/cga.12234. Epub 2017 Aug 1. Congenit Anom (Kyoto). 2018. PMID: 28670735 Free PMC article.

6

SIX3 mutations with holoprosencephaly.

Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. Ribeiro LA, et al. Am J Med Genet A. 2006 Dec 1;140(23):2577-83. doi: 10.1002/ajmg.a.31377. Am J Med Genet A. 2006. PMID: 17001667

7

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. Bendavid C, et al. Hum Genet. 2006 Mar;119(1-2):1-8. doi: 10.1007/s00439-005-0097-6. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323008

8

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. Geng X, et al. Dev Cell. 2008 Aug;15(2):236-47. doi: 10.1016/j.devcel.2008.07.003. Dev Cell. 2008. PMID: 18694563 Free PMC article.

9

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. Wallis DE, et al. Nat Genet. 1999 Jun;22(2):196-8. doi: 10.1038/9718. Nat Genet. 1999. PMID: 10369266

10

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. Dubourg C, et al. Hum Mutat. 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056. Hum Mutat. 2004. PMID: 15221788

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