Roessler E - Search Results

1

Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).

Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis SE. Roessler E, et al. Hum Genet. 1999 Nov;105(5):489-95. doi: 10.1007/s004390051135. Hum Genet. 1999. PMID: 10598817

2

How a Hedgehog might see holoprosencephaly.

Roessler E, Muenke M. Roessler E, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R15-25. doi: 10.1093/hmg/ddg058. Hum Mol Genet. 2003. PMID: 12668593 Review.

3

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

Schell-Apacik C, Rivero M, Knepper JL, Roessler E, Muenke M, Ming JE. Schell-Apacik C, et al. Among authors: roessler e. Hum Genet. 2003 Jul;113(2):170-7. doi: 10.1007/s00439-003-0950-4. Epub 2003 Apr 23. Hum Genet. 2003. PMID: 12709790

4

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Domené S, et al. Among authors: roessler e. Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12. Hum Mol Genet. 2008. PMID: 18791198 Free PMC article.

5

The molecular genetics of holoprosencephaly.

Roessler E, Muenke M. Roessler E, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104595 Free PMC article. Review.

6

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Pineda-Alvarez DE, Roessler E, Hu P, Srivastava K, Solomon BD, Siple CE, Fan CM, Muenke M. Pineda-Alvarez DE, et al. Among authors: roessler e. Hum Genet. 2012 Feb;131(2):301-10. doi: 10.1007/s00439-011-1078-6. Epub 2011 Aug 13. Hum Genet. 2012. PMID: 21842183 Free PMC article.

7

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

Srivastava K, Hu P, Solomon BD, Ming JE, Roessler E, Muenke M. Srivastava K, et al. Among authors: roessler e. Mol Genet Metab. 2012 Jun;106(2):241-3. doi: 10.1016/j.ymgme.2012.03.008. Epub 2012 Mar 21. Mol Genet Metab. 2012. PMID: 22503063 Free PMC article.

8

Holoprosencephaly in the genomics era.

Roessler E, Hu P, Muenke M. Roessler E, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):165-174. doi: 10.1002/ajmg.c.31615. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770992 Review.

9

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. Nat Genet. 1996 Nov;14(3):357-60. doi: 10.1038/ng1196-357. Nat Genet. 1996. PMID: 8896572

10

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. Hum Mol Genet. 1997 Oct;6(11):1847-53. doi: 10.1093/hmg/6.11.1847. Hum Mol Genet. 1997. PMID: 9302262

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