Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 92

1.

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, Muenke M.

Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982.

PMID:
19177455
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.

Brown L, Paraso M, Arkell R, Brown S.

Hum Mol Genet. 2005 Feb 1;14(3):411-20. Epub 2004 Dec 8.

PMID:
15590697
[PubMed - indexed for MEDLINE]
Free Article
3.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M.

Hum Mol Genet. 2001 Apr 1;10(8):791-6.

PMID:
11285244
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
19955556
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones M, Chandrasekharappa S, Richieri-Costa A, Muenke M.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):912-7. doi: 10.1002/bdra.23047. Epub 2012 Jul 27.

PMID:
22847929
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
7.

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.

Warr N, Powles-Glover N, Chappell A, Robson J, Norris D, Arkell RM.

Hum Mol Genet. 2008 Oct 1;17(19):2986-96. doi: 10.1093/hmg/ddn197. Epub 2008 Jul 9.

PMID:
18617531
[PubMed - indexed for MEDLINE]
Free Article
8.

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Wannasilp N, Solomon BD, Warren-Mora N, Clegg NJ, Delgado MR, Lacbawan F, Hu P, Winder TL, Roessler E, Muenke M.

Am J Med Genet A. 2011 Apr;155A(4):860-4. doi: 10.1002/ajmg.a.33903. Epub 2011 Mar 17.

PMID:
21416594
[PubMed - indexed for MEDLINE]
9.

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.

Chabchoub E, Willekens D, Vermeesch JR, Fryns JP.

Clin Genet. 2012 Jun;81(6):584-9. doi: 10.1111/j.1399-0004.2011.01684.x. Epub 2011 May 23.

PMID:
21496007
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
20531442
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

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]
13.

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M.

Nat Genet. 1998 Oct;20(2):180-3.

PMID:
9771712
[PubMed - indexed for MEDLINE]
14.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M.

Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. Epub 2003 Oct 27.

PMID:
14581620
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Holoprosencephaly-Polydactyly syndrome: in search of an etiology.

Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M.

Eur J Med Genet. 2008 Mar-Apr;51(2):106-12. doi: 10.1016/j.ejmg.2007.08.004. Epub 2007 Sep 15.

PMID:
18178536
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.

Orioli IM, Castilla EE, Ming JE, Nazer J, Burle de Aguiar MJ, Llerena JC, Muenke M.

Hum Genet. 2001 Jul;109(1):1-6.

PMID:
11479728
[PubMed - indexed for MEDLINE]
17.

Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.

Roessler E, Hu P, Hong SK, Srivastava K, Carrington B, Sood R, Petrykowska H, Elnitski L, Ribeiro LA, Richieri-Costa A, Feldman B, Odenwald WF, Muenke M.

PLoS One. 2012;7(7):e39026. doi: 10.1371/journal.pone.0039026. Epub 2012 Jul 31.

PMID:
22859937
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
19.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M.

Hum Mol Genet. 1999 Dec;8(13):2479-88.

PMID:
10556296
[PubMed - indexed for MEDLINE]
Free Article
20.

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD.

Am J Med Genet A. 2011 Jul;155A(7):1574-80. doi: 10.1002/ajmg.a.34029. Epub 2011 Jun 2.

PMID:
21638761
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk