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Stargardt disease相关文献:
Stargardt Disease.
Tsang SH, Sharma T.
Adv Exp Med Biol. 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27.
PMID:30578500
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE.
Biomolecules. 2021 Aug 9;11(8):1179. doi: 10.3390/biom11081179.
PMID:34439845
Stargardt disease masquerades.
Ricca AM, Han IC, Sohn EH.
Curr Opin Ophthalmol. 2021 May 1;32(3):214-224. doi: 10.1097/ICU.0000000000000750.
PMID:33653979
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM.
Am J Hum Genet. 2022 Mar 3;109(3):498-507. doi: 10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3.
PMID:35120629
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
Tanna P, Strauss RW, Fujinami K, Michaelides M.
Br J Ophthalmol. 2017 Jan;101(1):25-30. doi: 10.1136/bjophthalmol-2016-308823. Epub 2016 Aug 4.
PMID:27491360
Stargardt disease: Multimodal imaging: A review.
Heath Jeffery RC, Chen FK.
Clin Exp Ophthalmol. 2021 Jul;49(5):498-515. doi: 10.1111/ceo.13947. Epub 2021 Jun 1.
PMID:34013643
Stargardt disease and progress in therapeutic strategies.
Huang D, Heath Jeffery RC, Aung-Htut MT, McLenachan S, Fletcher S, Wilton SD, Chen FK.
Ophthalmic Genet. 2022 Feb;43(1):1-26. doi: 10.1080/13816810.2021.1966053. Epub 2021 Aug 29.
PMID:34455905
The Role of the Choroid in Stargardt Disease.
Abdolrahimzadeh S, Formisano M, Di Pippo M, Lodesani M, Lotery AJ.
Int J Mol Sci. 2022 Jul 9;23(14):7607. doi: 10.3390/ijms23147607.
PMID:35886953
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM.
Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20.
PMID:32307445
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H.
Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936.
PMID:28118664
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