Roessler E - Search Results

1

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.

Bae GU, Domené S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS. Bae GU, et al. Among authors: roessler e. Am J Hum Genet. 2011 Aug 12;89(2):231-40. doi: 10.1016/j.ajhg.2011.07.001. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802063 Free PMC article.

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

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: roessler e. 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.

5

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. Ming JE, et al. Among authors: roessler e. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695-5. Epub 2002 Mar 2. Hum Genet. 2002. PMID: 11941477

6

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.

7

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Roessler E, Ma Y, Ouspenskaia MV, Lacbawan F, Bendavid C, Dubourg C, Beachy PA, Muenke M. Roessler E, et al. Hum Genet. 2009 May;125(4):393-400. doi: 10.1007/s00439-009-0628-7. Epub 2009 Jan 31. Hum Genet. 2009. PMID: 19184110 Free PMC article.

8

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.

9

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.

Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. Hehr U, et al. Among authors: roessler e. Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16. Hum Genet. 2010. PMID: 20157829 Free PMC article.

10

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.

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