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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Among authors: sowden jc. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Kelberman D, et al. Among authors: sowden jc. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9. Hum Mol Genet. 2014. PMID: 24412933 Free PMC article.
Differentiation and Transplantation of Embryonic Stem Cell-Derived Cone Photoreceptors into a Mouse Model of End-Stage Retinal Degeneration.
Kruczek K, Gonzalez-Cordero A, Goh D, Naeem A, Jonikas M, Blackford SJI, Kloc M, Duran Y, Georgiadis A, Sampson RD, Maswood RN, Smith AJ, Decembrini S, Arsenijevic Y, Sowden JC, Pearson RA, West EL, Ali RR. Kruczek K, et al. Among authors: sowden jc. Stem Cell Reports. 2017 Jun 6;8(6):1659-1674. doi: 10.1016/j.stemcr.2017.04.030. Epub 2017 May 25. Stem Cell Reports. 2017. PMID: 28552606 Free PMC article.
Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors.
Gonzalez-Cordero A, Kruczek K, Naeem A, Fernando M, Kloc M, Ribeiro J, Goh D, Duran Y, Blackford SJI, Abelleira-Hervas L, Sampson RD, Shum IO, Branch MJ, Gardner PJ, Sowden JC, Bainbridge JWB, Smith AJ, West EL, Pearson RA, Ali RR. Gonzalez-Cordero A, et al. Among authors: sowden jc. Stem Cell Reports. 2017 Sep 12;9(3):820-837. doi: 10.1016/j.stemcr.2017.07.022. Epub 2017 Aug 24. Stem Cell Reports. 2017. PMID: 28844659 Free PMC article.
119 results