Roessler E - Search Results

1

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN, Roessler E, Burdine RD, Saplakoğlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Bamford RN, et al. Among authors: roessler e. Nat Genet. 2000 Nov;26(3):365-9. doi: 10.1038/81695. Nat Genet. 2000. PMID: 11062482

2

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

3

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M. Roessler E, et al. Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5. Am J Hum Genet. 2008. PMID: 18538293 Free PMC article.

4

Midline and laterality defects: left and right meet in the middle.

Roessler E, Muenke M. Roessler E, et al. Bioessays. 2001 Oct;23(10):888-900. doi: 10.1002/bies.1130. Bioessays. 2001. PMID: 11598956 Review.

5

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M. Karkera JD, et al. Among authors: roessler e. Am J Hum Genet. 2007 Nov;81(5):987-94. doi: 10.1086/522890. Epub 2007 Sep 28. Am J Hum Genet. 2007. PMID: 17924340 Free PMC article.

6

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

7

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M. Goldmuntz E, et al. Among authors: roessler e. Am J Hum Genet. 2002 Mar;70(3):776-80. doi: 10.1086/339079. Epub 2002 Jan 17. Am J Hum Genet. 2002. PMID: 11799476 Free PMC article.

8

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.

9

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.

10

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.

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