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Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium. Arno G, et al. Among authors: pontikos n. JAMA Ophthalmol. 2016 Aug 1;134(8):924-7. doi: 10.1001/jamaophthalmol.2016.1543. JAMA Ophthalmol. 2016. PMID: 27281386
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: pontikos n. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I. Tummala H, et al. Among authors: pontikos n. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7. Proc Natl Acad Sci U S A. 2020. PMID: 32636268 Free PMC article.
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR. Silva RS, et al. Among authors: pontikos n. Hum Mutat. 2019 May;40(5):578-587. doi: 10.1002/humu.23715. Epub 2019 Feb 14. Hum Mutat. 2019. PMID: 30710461
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.
Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart A, Israeli E, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP. Schiff ER, et al. Among authors: pontikos n. Hum Genet. 2018 Sep;137(9):723-734. doi: 10.1007/s00439-018-1927-7. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167848 Free PMC article.
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.
Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P. Dudakova L, et al. Among authors: pontikos n. Stem Cell Rev Rep. 2018 Feb;14(1):148-151. doi: 10.1007/s12015-017-9780-y. Stem Cell Rev Rep. 2018. PMID: 29134474 No abstract available.
154 results