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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Muggenthaler MM, et al. Among authors: lees m. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28081210 Free PMC article.
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL. Rooryck C, et al. Among authors: lees m. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258343 Free PMC article.
Familial Absent Uvula With Velopharyngeal Incompetence-A New Syndrome?
Sommerlad B, Seselgyte R, Lees M, Pauws E, Stanier P, Sell D. Sommerlad B, et al. Among authors: lees m. Cleft Palate Craniofac J. 2020 Apr;57(4):514-519. doi: 10.1177/1055665619880401. Epub 2019 Oct 13. Cleft Palate Craniofac J. 2020. PMID: 31607140
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Seselgyte R, Bryant D, Demetriou C, Ishida M, Peskett E, Moreno N, Morrogh D, Sell D, Lees M, Farrall M, Moore GE, Sommerlad B, Pauws E, Stanier P. Seselgyte R, et al. Among authors: lees m. J Dent Res. 2019 Jun;98(6):659-665. doi: 10.1177/0022034519837245. Epub 2019 Mar 27. J Dent Res. 2019. PMID: 30917284 Free PMC article.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. Munye MM, et al. Among authors: lees m. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28301481 Free PMC article.
614 results