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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Among authors: utine ge. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.
Demir E, Tuna Kirsaçlioğlu C, Saltik-Temizel İN, Ürel-Demir G, Karaosmanoğlu B, Taşkiran EZ, Şimşek-Kiper PÖ, Utine GE, Kuloğlu Z, Kansu A. Demir E, et al. Among authors: utine ge. Clin Dysmorphol. 2023 Apr 1;32(2):88-91. doi: 10.1097/MCD.0000000000000451. Epub 2023 Feb 13. Clin Dysmorphol. 2023. PMID: 36779798 Review. No abstract available.
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: utine ge. 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.
143 results