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Page 1
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
Jain M, Wallis D, Robin NH, De Vrieze FW, Hardy JA, Ghadami M, Bosse K, Betz RC, Nöthen MM, Arcos-Burgos M, Muenke M. Jain M, et al. Among authors: muenke m. Am J Med Genet A. 2008 Sep 1;146A(17):2308-11. doi: 10.1002/ajmg.a.32445. Am J Med Genet A. 2008. PMID: 18680190 Free PMC article. No abstract available.
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. Feldman GJ, et al. Among authors: muenke m. Am J Hum Genet. 1995 Apr;56(4):938-43. Am J Hum Genet. 1995. PMID: 7717404 Free PMC article.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.
Molecular mechanisms of holoprosencephaly.
Wallis DE, Muenke M. Wallis DE, et al. Among authors: muenke m. Mol Genet Metab. 1999 Oct;68(2):126-38. doi: 10.1006/mgme.1999.2895. Mol Genet Metab. 1999. PMID: 10527664 Free article. Review.
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: muenke m. Hum Mol Genet. 1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. Hum Mol Genet. 1999. PMID: 10556296
324 results