Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 248

1.

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.

2.

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M.

Hum Mol Genet. 1999 Sep;8(9):1683-9.

3.

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
4.

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA.

Brain Dev. 2010 Mar;32(3):217-22. doi: 10.1016/j.braindev.2009.02.014. Epub 2009 Apr 26.

PMID:
19398181
5.

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE.

Hum Genet. 2003 Jul;113(2):170-7. Epub 2003 Apr 23.

PMID:
12709790
6.

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M.

Hum Mol Genet. 1997 Oct;6(11):1847-53.

7.

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G.

Am J Med Genet A. 2003 Mar 1;117A(2):112-5.

PMID:
12567406
8.

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
9.

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M.

J Biol Chem. 2004 Oct 8;279(41):42889-97. Epub 2004 Jul 28.

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.

Hum Mutat. 2004 Jul;24(1):43-51.

PMID:
15221788
11.

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
12.

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

Hehr U, Gross C, Diebold U, Wahl D, Beudt U, Heidemann P, Hehr A, Mueller D.

Eur J Pediatr. 2004 Jul;163(7):347-52. Epub 2004 Apr 24.

PMID:
15107988
13.

Mutations in holoprosencephaly.

Wallis D, Muenke M.

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

PMID:
10923031
14.

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M.

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

PMID:
9630065
15.

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M.

Am J Med Genet. 2001 Jul 22;102(1):1-10. Review.

PMID:
11471164
16.

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
17.

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
18.
19.

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Singh S, Tokhunts R, Baubet V, Goetz JA, Huang ZJ, Schilling NS, Black KE, MacKenzie TA, Dahmane N, Robbins DJ.

Hum Genet. 2009 Feb;125(1):95-103. doi: 10.1007/s00439-008-0599-0. Epub 2008 Dec 5.

20.

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M.

Am J Med Genet. 1996 Dec 30;66(4):478-84.

PMID:
8989473
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk