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514 results

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Page 1
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.
Woof W, de Guimarães TAC, Al-Khuzaei S, Daich Varela M, Sen S, Bagga P, Mendes B, Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Sumodhee D, Patel P, Furman J, Moghul I, Moosajee M, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusudhan S, Balaskas K, Michaelides M, Pontikos N. Woof W, et al. Among authors: lorenz b. medRxiv [Preprint]. 2024 Aug 14:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
The Feasibility of Using Ultra-Widefield Retinal Imaging to Identify Ocular Pathologies amongst Those with Systemic Medical Disease Attending a Tertiary Healthcare Facility at a University Hospital.
Uhrmann MF, Peto T, Bullmann T, Andrassi-Darida M, Schumann M, Schmitz-Valckenberg S, Holz FG, Lorenz B. Uhrmann MF, et al. Among authors: lorenz b. Ophthalmologica. 2022;245(5):455-463. doi: 10.1159/000526573. Epub 2022 Aug 17. Ophthalmologica. 2022. PMID: 35977524 Free article.
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. Chung DC, et al. Among authors: lorenz b. Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28. Am J Ophthalmol. 2019. PMID: 30268864 Free PMC article.
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Igelman AD, et al. Among authors: lorenz b. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39079892
Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
Chandra A, Arno G, Williamson K, Sergouniotis PI, Preising MN, Charteris DG, Thompson DA, Holder GE, Borman AD, Davagnanam I, Webster AR, Lorenz B, FitzPatrick DR, Moore AT. Chandra A, et al. Among authors: lorenz b. JAMA Ophthalmol. 2014 Aug;132(8):996-1001. doi: 10.1001/jamaophthalmol.2014.940. JAMA Ophthalmol. 2014. PMID: 24874986
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Among authors: lorenz b. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.
[Diagnostics and management of patients with inherited retinal diseases in Germany : Results of a nationwide survey of university and non-university eye departments and specialized practices].
Künzel SH, Mahren E, Morr M, Holz FG, Lorenz B; Arbeitsgruppe IRDs in Deutschland. Künzel SH, et al. Among authors: lorenz b. Ophthalmologie. 2023 Nov;120(11):1127-1137. doi: 10.1007/s00347-023-01902-9. Epub 2023 Aug 15. Ophthalmologie. 2023. PMID: 37582888 German.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: lorenz b. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
514 results