Roessler E - Search Results

1

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

Cornejo-Roldan LR, Roessler E, Muenke M. Cornejo-Roldan LR, et al. Among authors: roessler e. Hum Genet. 1999 May;104(5):425-31. doi: 10.1007/s004390050979. Hum Genet. 1999. PMID: 10394936

2

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.

3

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Hong S, et al. Among authors: roessler e. Hum Mol Genet. 2016 May 15;25(10):1912-1922. doi: 10.1093/hmg/ddw064. Epub 2016 Feb 29. Hum Mol Genet. 2016. PMID: 26931467 Free PMC article.

4

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Hong S, Hu P, Roessler E, Hu T, Muenke M. Hong S, et al. Among authors: roessler e. Hum Mol Genet. 2018 Jun 1;27(11):1989-1998. doi: 10.1093/hmg/ddy106. Hum Mol Genet. 2018. PMID: 29584859 Free PMC article.

5

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Gaudenz K, Roessler E, Vainikka S, Alitalo K, Muenke M. Gaudenz K, et al. Among authors: roessler e. Mol Genet Metab. 1998 May;64(1):76-9. doi: 10.1006/mgme.1998.2694. Mol Genet Metab. 1998. PMID: 9682222 Free article.

6

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. Nanni L, et al. Among authors: roessler e. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296

7

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

8

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

9

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

10

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.

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