Muenke M - Search Results

1

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. Bendavid C, et al. Among authors: muenke m. J Med Genet. 2006 Jun;43(6):496-500. doi: 10.1136/jmg.2005.037176. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199538 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

Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.

Sawyer JR, Lukacs JL, Hassed SJ, Arnold GL, Mitchell HF, Muenke M. Sawyer JR, et al. Among authors: muenke m. Am J Med Genet. 1996 Oct 16;65(2):113-6. doi: 10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8911601

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

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M. Ming JE, et al. Among authors: muenke m. Clin Genet. 1998 Mar;53(3):155-63. doi: 10.1111/j.1399-0004.1998.tb02666.x. Clin Genet. 1998. PMID: 9630065 Review.

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

Molecular mechanisms of holoprosencephaly.

Wallis DE, Muenke M. Wallis DE, et al. Among authors: muenke m. Mol Genet Metab. 1999 Oct;68(2):126-38. doi: 10.1006/mgme.1999.2895. Mol Genet Metab. 1999. PMID: 10527664 Free article. Review.

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