Muenke M - Search Results

1

BOC is a modifier gene in holoprosencephaly.

Hong M, Srivastava K, Kim S, Allen BL, Leahy DJ, Hu P, Roessler E, Krauss RS, Muenke M. Hong M, et al. Among authors: muenke m. Hum Mutat. 2017 Nov;38(11):1464-1470. doi: 10.1002/humu.23286. Epub 2017 Jul 21. Hum Mutat. 2017. PMID: 28677295 Free PMC article.

2

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

Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M. Overhauser J, et al. Among authors: muenke m. Am J Hum Genet. 1995 Nov;57(5):1080-5. Am J Hum Genet. 1995. PMID: 7485158 Free PMC article.

3

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

4

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

5

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

6

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

7

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

8

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.

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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