Roessler E - Search Results

1

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M. Roessler E, et al. Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. doi: 10.1073/pnas.2235734100. Epub 2003 Oct 27. Proc Natl Acad Sci U S A. 2003. PMID: 14581620 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

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.

4

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.

5

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.

6

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

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

7

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

8

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M. de la Cruz JM, et al. Among authors: roessler e. Hum Genet. 2002 May;110(5):422-8. doi: 10.1007/s00439-002-0709-3. Epub 2002 Apr 10. Hum Genet. 2002. PMID: 12073012

9

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

10

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

Roessler E, Ermilov AN, Grange DK, Wang A, Grachtchouk M, Dlugosz AA, Muenke M. Roessler E, et al. Hum Mol Genet. 2005 Aug 1;14(15):2181-8. doi: 10.1093/hmg/ddi222. Epub 2005 Jun 30. Hum Mol Genet. 2005. PMID: 15994174

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