Sergouniotis PI - Search Results

1

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. Invest Ophthalmol Vis Sci. 2015. PMID: 26720460 Free article.

2

Reply.

Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Linton E, et al. Retina. 2023 Sep 1;43(9):e53. doi: 10.1097/IAE.0000000000003830. Retina. 2023. PMID: 37155940 No abstract available.

3

Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study.

Julian TH, Girach Z, Sanderson E, Guo H, Yu J, Cooper-Knock J, Black GC, Sergouniotis PI. Julian TH, et al. Among authors: sergouniotis pi. Sci Rep. 2023 Jun 20;13(1):9984. doi: 10.1038/s41598-023-37144-7. Sci Rep. 2023. PMID: 37340071 Free PMC article.

4

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

Sergouniotis PI, Michaud V, Lasseaux E, Campbell C, Plaisant C, Javerzat S, Birney E, Ramsden SC, Black GC, Arveiler B. Sergouniotis PI, et al. J Med Genet. 2023 Nov 27;60(12):1245-1249. doi: 10.1136/jmg-2022-109088. J Med Genet. 2023. PMID: 37460203 Free PMC article.

5

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Li Z, et al. Among authors: sergouniotis pi. Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878917 Free PMC article.

6

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.

7

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR. Mukhopadhyay R, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Mar 26;16:540-8. Mol Vis. 2010. PMID: 20361016 Free PMC article.

8

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043. Invest Ophthalmol Vis Sci. 2011. PMID: 20811058

9

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT. Henderson RH, et al. Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17. Br J Ophthalmol. 2011. PMID: 20956273

10

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Davidson AE, Sergouniotis PI, Burgess-Mullan R, Hart-Holden N, Low S, Foster PJ, Manson FD, Black GC, Webster AR. Davidson AE, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Dec 31;16:2916-22. Mol Vis. 2010. PMID: 21203346 Free PMC article.

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