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Page 1
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, Darbro BW, Cornell RA, Houston DW, Murray JC, Manak JR. Lansdon LA, et al. Am J Hum Genet. 2023 Jan 5;110(1):71-91. doi: 10.1016/j.ajhg.2022.11.012. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493769 Free PMC article.
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. Leslie EJ, et al. Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896. Am J Med Genet A. 2015. PMID: 25691407 Free PMC article.
Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3.
de la Garza G, Schleiffarth JR, Dunnwald M, Mankad A, Weirather JL, Bonde G, Butcher S, Mansour TA, Kousa YA, Fukazawa CF, Houston DW, Manak JR, Schutte BC, Wagner DS, Cornell RA. de la Garza G, et al. J Invest Dermatol. 2013 Jan;133(1):68-77. doi: 10.1038/jid.2012.269. Epub 2012 Aug 30. J Invest Dermatol. 2013. PMID: 22931925 Free PMC article.
11 results