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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.
Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: capurro m. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587
The role of glypicans in Hedgehog signaling.
Filmus J, Capurro M. Filmus J, et al. Among authors: capurro m. Matrix Biol. 2014 Apr;35:248-52. doi: 10.1016/j.matbio.2013.12.007. Epub 2014 Jan 8. Matrix Biol. 2014. PMID: 24412155 Free article. Review.
Glypicans.
Filmus J, Capurro M, Rast J. Filmus J, et al. Among authors: capurro m. Genome Biol. 2008;9(5):224. doi: 10.1186/gb-2008-9-5-224. Epub 2008 May 22. Genome Biol. 2008. PMID: 18505598 Free PMC article. Review.
146 results