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Items: 1 to 20 of 98

1.

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Srivastava K, Hu P, Solomon BD, Ming JE, Roessler E, Muenke M.

Mol Genet Metab. 2012 Jun;106(2):241-3. doi: 10.1016/j.ymgme.2012.03.008. Epub 2012 Mar 21.

2.

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.

3.

Noggin null allele mice exhibit a microform of holoprosencephaly.

Lana-Elola E, Tylzanowski P, Takatalo M, Alakurtti K, Veistinen L, Mitsiadis TA, Graf D, Rice R, Luyten FP, Rice DP.

Hum Mol Genet. 2011 Oct 15;20(20):4005-15. doi: 10.1093/hmg/ddr329. Epub 2011 Aug 5.

4.

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.

5.

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
6.

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
7.

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M.

Nat Genet. 1996 Nov;14(3):357-60.

PMID:
8896572
8.

Mutations in holoprosencephaly.

Wallis D, Muenke M.

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

PMID:
10923031
9.

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.

10.

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M.

Hum Genet. 2002 Apr;110(4):297-301. Epub 2002 Mar 2. Erratum in: Hum Genet 2002 Oct;111(4-5):464.

PMID:
11941477
11.

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M.

Hum Genet. 2009 May;125(4):393-400. doi: 10.1007/s00439-009-0628-7. Epub 2009 Jan 31.

12.

Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly.

Klingensmith J, Matsui M, Yang YP, Anderson RM.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):43-51. doi: 10.1002/ajmg.c.30256. Review.

13.

Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.

Hong M, Krauss RS.

PLoS Genet. 2012;8(10):e1002999. doi: 10.1371/journal.pgen.1002999. Epub 2012 Oct 11.

14.

Molecular genetics of holoprosencephaly.

Nanni L, Schelper RL, Muenke MT.

Front Biosci. 2000 Mar 1;5:D334-42. Review.

15.

The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.

Roessler E, Du Y, Glinka A, Dutra A, Niehrs C, Muenke M.

Cytogenet Cell Genet. 2000;89(3-4):220-4.

PMID:
10965128
16.

Mouse models of holoprosencephaly.

Hayhurst M, McConnell SK.

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

PMID:
12644739
17.

Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).

Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis SE.

Hum Genet. 1999 Nov;105(5):489-95.

PMID:
10598817
18.
19.

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.

20.

Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.

Dennis JF, Kurosaka H, Iulianella A, Pace J, Thomas N, Beckham S, Williams T, Trainor PA.

PLoS Genet. 2012;8(10):e1002927. doi: 10.1371/journal.pgen.1002927. Epub 2012 Oct 4.

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