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Page 1
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: sallum jmf. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
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. Khan M, et al. Among authors: sallum jmf. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA. Koenekoop RK, et al. Lancet. 2014 Oct 25;384(9953):1513-20. doi: 10.1016/S0140-6736(14)60153-7. Epub 2014 Jul 13. Lancet. 2014. PMID: 25030840 Clinical Trial.
Relative frequency of inherited retinal dystrophies in Brazil.
Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF. Motta FL, et al. Among authors: sallum jmf. Sci Rep. 2018 Oct 29;8(1):15939. doi: 10.1038/s41598-018-34380-0. Sci Rep. 2018. PMID: 30374144 Free PMC article.
Macular dystrophies associated with Stargardt-like phenotypes.
Amaral RAS, Zin OA, Salles MV, Motta FL, Sallum JMF. Amaral RAS, et al. Among authors: sallum jmf. Arq Bras Oftalmol. 2023 Mar 24:S0004-27492023005002303. doi: 10.5935/0004-2749.2021-0415. Online ahead of print. Arq Bras Oftalmol. 2023. PMID: 36995812 Free article.
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Silva RS, Salles MV, Motta FL, Sallum JMF. Silva RS, et al. Among authors: sallum jmf. Sci Rep. 2020 Jan 31;10(1):1603. doi: 10.1038/s41598-020-58243-9. Sci Rep. 2020. PMID: 32005865 Free PMC article.
[Gene therapy for inherited retinal dystrophies].
Côco M, Han SW, Sallum JM. Côco M, et al. Arq Bras Oftalmol. 2009 Jul-Aug;72(4):560-6. doi: 10.1590/s0004-27492009000400026. Arq Bras Oftalmol. 2009. PMID: 19820803 Free article. Review. Portuguese.
Retinal dystrophies and variants in PRPH2.
Palma MMD, Martin D, Salles MV, Motta FLT, Abujamra S, Sallum JMF. Palma MMD, et al. Among authors: sallum jmf. Arq Bras Oftalmol. 2019 Mar-Apr;82(2):158-160. doi: 10.5935/0004-2749.20190033. Arq Bras Oftalmol. 2019. PMID: 30726412 Free article.
65 results