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Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.
Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Merrill AE, et al. Among authors: camacho n. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015. Am J Hum Genet. 2009. PMID: 19361615 Free PMC article.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Krakow D, et al. Among authors: camacho n. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232556 Free PMC article.
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. Alanay Y, et al. Among authors: camacho n. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362275 Free PMC article.
Reply.
Muftuoglu IK, Arcinue CA, Tsai FF, Alam M, Gaber R, Camacho N, Freeman WR. Muftuoglu IK, et al. Among authors: camacho n. Am J Ophthalmol. 2017 Jan;173:146. doi: 10.1016/j.ajo.2016.09.023. Epub 2016 Nov 11. Am J Ophthalmol. 2017. PMID: 27842697 No abstract available.
Reply.
Muftuoglu IK, Arcinue CA, Alam M, Gaber R, Camacho N, You Q, Tsai FF, Freeman WR. Muftuoglu IK, et al. Among authors: camacho n. Am J Ophthalmol. 2016 Oct;170:247-248. doi: 10.1016/j.ajo.2016.08.001. Epub 2016 Sep 16. Am J Ophthalmol. 2016. PMID: 27646165 No abstract available.
Outer retinal tubulations response to anti-VEGF treatment.
Espina M, Arcinue CA, Ma F, Camacho N, Barteselli G, Mendoza N, Ferrara N, Freeman WR. Espina M, et al. Among authors: camacho n. Br J Ophthalmol. 2016 Jun;100(6):819-23. doi: 10.1136/bjophthalmol-2015-307141. Epub 2015 Sep 30. Br J Ophthalmol. 2016. PMID: 26423451
223 results