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Items: 1 to 20 of 101

1.

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.

Kauvar EF, Hu P, Pineda-Alvarez DE, Solomon BD, Dutra A, Pak E, Blessing B, Proud V, Shanske AL, Stevens CA, Rosenfeld JA, Shaffer LG, Roessler E, Muenke M.

Mol Genet Metab. 2011 Apr;102(4):470-80. doi: 10.1016/j.ymgme.2010.12.008. Epub 2010 Dec 21.

2.

Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice.

Billington CJ Jr, Schmidt B, Marcucio RS, Hallgrimsson B, Gopalakrishnan R, Petryk A.

Dis Model Mech. 2015 Feb;8(2):139-46. doi: 10.1242/dmm.018275. Epub 2014 Dec 2.

3.

Physical mapping of the holoprosencephaly critical region in 18p11.3.

Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M.

Am J Hum Genet. 1995 Nov;57(5):1080-5.

4.

The expression of twisted gastrulation in postnatal mouse brain and functional implications.

Sun M, Forsman C, Sergi C, Gopalakrishnan R, O'Connor MB, Petryk A.

Neuroscience. 2010 Aug 25;169(2):920-31. doi: 10.1016/j.neuroscience.2010.05.026. Epub 2010 May 20.

5.

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW.

Nat Genet. 1996 Nov;14(3):353-6.

PMID:
8896571
6.

Strong variable clinical presentation in 3 patients with 7q terminal deletion.

Frints SG, Schrander-Stumpel CT, Schoenmakers EF, Engelen JJ, Reekers AB, Van den Neucker AM, Smeets E, Devlieger H, Fryns JP.

Genet Couns. 1998;9(1):5-14.

PMID:
9555580
7.

Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects.

Yi Z, Yingjun X, Yongzhen C, Liangying Z, Meijiao S, Baojiang C.

Gene. 2014 Jan 10;533(2):565-9. doi: 10.1016/j.gene.2013.09.027. Epub 2013 Oct 1.

PMID:
24091065
8.

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.

Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M.

Hum Genet. 1997 Aug;100(2):172-81.

PMID:
9254845
9.

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
10.

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, Houang M.

Clin Dysmorphol. 2007 Oct;16(4):247-52.

PMID:
17786116
11.

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
12.

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.

13.
14.

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M.

Clin Genet. 1998 Mar;53(3):155-63. Review.

PMID:
9630065
15.

Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.

Chen CP, Huang JP, Chen YY, Chern SR, Wu PS, Su JW, Pan CW, Wang W.

Gene. 2013 Sep 25;527(2):636-41. doi: 10.1016/j.gene.2013.06.081. Epub 2013 Jul 11.

PMID:
23850725
16.

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Dupé V, Rochard L, Mercier S, Le Pétillon Y, Gicquel I, Bendavid C, Bourrouillou G, Kini U, Thauvin-Robinet C, Bohan TP, Odent S, Dubourg C, David V.

Hum Mol Genet. 2011 Mar 15;20(6):1122-31. doi: 10.1093/hmg/ddq556. Epub 2010 Dec 31.

17.

Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.

Kamnasaran D, Chen CP, Devriendt K, Mehta L, Cox DW.

Genomics. 2005 May;85(5):608-21.

PMID:
15820313
18.

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
19.

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
20.

Enhanced osteoclastogenesis causes osteopenia in twisted gastrulation-deficient mice through increased BMP signaling.

Sotillo Rodriguez JE, Mansky KC, Jensen ED, Carlson AE, Schwarz T, Pham L, MacKenzie B, Prasad H, Rohrer MD, Petryk A, Gopalakrishnan R.

J Bone Miner Res. 2009 Nov;24(11):1917-26. doi: 10.1359/jbmr.090507.

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