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Page 1
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Ratnapriya R, et al. Among authors: sahel ja. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899048 Free PMC article.
Retest variability and patient reliability indices of quantitative fundus autofluorescence in age-related macular degeneration: a MACUSTAR study report.
von der Emde L, Mallwitz M, Vaisband M, Hasenauer J, Saßmannshausen M, Terheyden JH; MACUSTAR Consortium; Sloan KR, Schmitz-Valckenberg S, Finger RP, Holz FG, Ach T. von der Emde L, et al. Sci Rep. 2023 Oct 13;13(1):17417. doi: 10.1038/s41598-023-43417-y. Sci Rep. 2023. PMID: 37833348 Free PMC article.
Author Correction: Comparability of automated drusen volume measurements in age-related macular degeneration: a MACUSTAR study report.
Garzone D, Terheyden JH, Morelle O, Wintergerst MWM, Saßmannshausen M, Schmitz-Valckenberg S, Pfau M, Thiele S, Poor S, Leal S, Holz FG, Finger RP; MACUSTAR Consortium. Garzone D, et al. Sci Rep. 2023 Mar 7;13(1):3795. doi: 10.1038/s41598-023-30360-1. Sci Rep. 2023. PMID: 36882430 Free PMC article. No abstract available.
Fully Automated OCT-based Tissue Screening System.
Pi S, Ganjee R, Wang L, Arbuckle RK, Zhao C, Sahel JA, Wang B, Chen Y. Pi S, et al. Among authors: sahel ja. ArXiv [Preprint]. 2024 May 15:arXiv:2405.09601v1. ArXiv. 2024. PMID: 38800655 Free PMC article. Preprint.
[Ophthalmological research in Germany: evaluation by an international expert panel].
Ader M, Cursiefen C, Fauser S, Gliem M, Helbig H, Lagrèze W, Marshall J, Roesky C, Sahel JA, Schlötzer-Schrehard U, Sieving P, Ueffing M. Ader M, et al. Among authors: sahel ja. Ophthalmologie. 2024 May 22. doi: 10.1007/s00347-024-02043-3. Online ahead of print. Ophthalmologie. 2024. PMID: 38775988 German.
Oral 8-aminoguanine against age-related retinal degeneration.
Chen Y, Vats A, Xi Y, Wolf-Johnston A, Clinger O, Arbuckle R, Dermond C, Li J, Stolze D, Sahel JA, Jackson E, Birder L. Chen Y, et al. Among authors: sahel ja. Res Sq [Preprint]. 2024 May 6:rs.3.rs-4022389. doi: 10.21203/rs.3.rs-4022389/v1. Res Sq. 2024. PMID: 38765984 Free PMC article. Preprint.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: sahel ja. J Inherit Metab Dis. 2024 Apr 16. doi: 10.1002/jimd.12738. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38623632
639 results