Muenke M - Search Results

1

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

2

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

Arauz RF, Solomon BD, Pineda-Alvarez DE, Gropman AL, Parsons JA, Roessler E, Muenke M. Arauz RF, et al. Among authors: muenke m. Mol Syndromol. 2010;1(2):59-66. doi: 10.1159/000302285. Epub 2010 Apr 22. Mol Syndromol. 2010. PMID: 21045958 Free PMC article.

3

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M. Keaton AA, et al. Among authors: muenke m. Mol Syndromol. 2010;1(5):211-222. doi: 10.1159/000328203. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22125506 Free PMC article.

4

Imaging studies in a unique familial dysmyelinating disorder.

Gripp KW, Zimmerman RA, Wang ZJ, Rorke LB, Duhaime AC, Schut L, Molloy PT, Tucker SH, Zackai EH, Muenke M. Gripp KW, et al. Among authors: muenke m. AJNR Am J Neuroradiol. 1998 Aug;19(7):1368-72. AJNR Am J Neuroradiol. 1998. PMID: 9726484 Free PMC article.

5

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: muenke m. Hum Genet. 1999 May;104(5):425-31. doi: 10.1007/s004390050979. Hum Genet. 1999. PMID: 10394936

6

Craniosynostosis syndromes: from genes to premature fusion of skull bones.

Hehr U, Muenke M. Hehr U, et al. Among authors: muenke m. Mol Genet Metab. 1999 Oct;68(2):139-51. doi: 10.1006/mgme.1999.2915. Mol Genet Metab. 1999. PMID: 10527665 Review. No abstract available.

7

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: muenke m. 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.

8

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

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

9

The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.

Karkera JD, Izraeli S, Roessler E, Dutra A, Kirsch I, Muenke M. Karkera JD, et al. Among authors: muenke m. Cytogenet Genome Res. 2002;97(1-2):62-7. doi: 10.1159/000064057. Cytogenet Genome Res. 2002. PMID: 12438740

10

Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.

Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M. Orenstein N, et al. Among authors: muenke m. Clin Genet. 2017 Jun;91(6):913-917. doi: 10.1111/cge.12930. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27891590 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results