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Results: 1 to 20 of 238

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.

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

PMID:
10441331
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
9302262
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
15292211
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
13.

Mutations in holoprosencephaly.

Wallis D, Muenke M.

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

PMID:
10923031
[PubMed - indexed for MEDLINE]
14.

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M.

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

PMID:
9630065
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
18.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.

J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008.

PMID:
22791840
[PubMed - indexed for MEDLINE]
19.

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.

Heussler HS, Suri M, Young ID, Muenke M.

Arch Dis Child. 2002 Apr;86(4):293-6.

PMID:
11919111
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
19057928
[PubMed - indexed for MEDLINE]
Free PMC Article

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