Muenke M - Search Results

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. Roessler E, et al. Among authors: muenke m. Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982. Hum Mutat. 2009. PMID: 19177455 Free PMC article.

2

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. Belloni E, et al. Among authors: muenke m. Nat Genet. 1996 Nov;14(3):353-6. doi: 10.1038/ng1196-353. Nat Genet. 1996. PMID: 8896571

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. Roessler E, et al. Among authors: muenke m. Nat Genet. 1996 Nov;14(3):357-60. doi: 10.1038/ng1196-357. Nat Genet. 1996. PMID: 8896572

4

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. Kelley RL, et al. Among authors: muenke m. Am J Med Genet. 1996 Dec 30;66(4):478-84. doi: 10.1002/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8989473

5

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. Roessler E, et al. Among authors: muenke m. Hum Genet. 1997 Aug;100(2):172-81. doi: 10.1007/s004390050486. Hum Genet. 1997. PMID: 9254845

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. Roessler E, et al. Among authors: muenke m. Hum Mol Genet. 1997 Oct;6(11):1847-53. doi: 10.1093/hmg/6.11.1847. Hum Mol Genet. 1997. PMID: 9302262

7

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Gaudenz K, Roessler E, Vainikka S, Alitalo K, Muenke M. Gaudenz K, et al. Among authors: muenke m. Mol Genet Metab. 1998 May;64(1):76-9. doi: 10.1006/mgme.1998.2694. Mol Genet Metab. 1998. PMID: 9682222 Free article.

8

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Gaudenz K, et al. Among authors: muenke m. Am J Hum Genet. 1998 Sep;63(3):703-10. doi: 10.1086/302010. Am J Hum Genet. 1998. PMID: 9718340 Free PMC article.

9

Holoprosencephaly: a paradigm for the complex genetics of brain development.

Roessler E, Muenke M. Roessler E, et al. Among authors: muenke m. J Inherit Metab Dis. 1998 Aug;21(5):481-97. doi: 10.1023/a:1005406719292. J Inherit Metab Dis. 1998. PMID: 9728329 Review.

10

Human developmental disorders and the Sonic hedgehog pathway.

Ming JE, Roessler E, Muenke M. Ming JE, et al. Among authors: muenke m. Mol Med Today. 1998 Aug;4(8):343-9. doi: 10.1016/s1357-4310(98)01299-4. Mol Med Today. 1998. PMID: 9755453 Review.

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