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Multimodal imaging in retinitis pigmentosa related to the EYS gene.
Martins EADS, Rodrigues GD, Ivama KJ, Pereira MC, Texeira CHM, Amaral RAS, Sallum JMF. Martins EADS, et al. Among authors: sallum jmf. Arq Bras Oftalmol. 2024 Nov 22;88(3):S0004-27492025000300306. doi: 10.5935/0004-2749.2024-0104. eCollection 2024. Arq Bras Oftalmol. 2024. PMID: 39607159 Free article.
Rheumatic fever and long-term use of benzathine penicillin as possible risk factors for extensive macular atrophy with pseudodrusen in a Brazilian cohort.
Moreira-Neto CA, Schmidt Andujar RA, Chao JCT, Vasconcelos H, Alves FEE, Rodrigues GD, Hirt B, Arana J, Souza EC, Maia A, Sallum JMF, Moreira CA Jr. Moreira-Neto CA, et al. Among authors: sallum jmf. Int J Retina Vitreous. 2024 Oct 11;10(1):75. doi: 10.1186/s40942-024-00592-y. Int J Retina Vitreous. 2024. PMID: 39394154 Free PMC article.
Plasma ceramides as biomarkers for microvascular disease and clinical outcomes in diabetes and myocardial infarction.
Junqueira DL, Cavalcanti AB, Sallum JMF, Yasaki E, de Andrade Jesuíno I, Stach A, Negrelli K, de Oliveira Silva L, Lopes MA, Caixeta A, Chan MY, Ching J, Carvalho VM, Faccio AT, Tsutsui J, Rizzatti E, Fonseca RA, Summers S, Fonseca HA, Rochitte CE, Krieger JE, de Carvalho LP. Junqueira DL, et al. Among authors: sallum jmf. Clin Diabetes Endocrinol. 2024 Sep 17;10(1):32. doi: 10.1186/s40842-024-00186-5. Clin Diabetes Endocrinol. 2024. PMID: 39285502 Free PMC article.
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Lourenço CM, Sallum JMF, Pereira AM, Girotto PN, Kok F, Vilela DRF, Barron E, Pessoa A, Oliveira BM. Lourenço CM, et al. Among authors: sallum jmf. Arq Neuropsiquiatr. 2024 May;82(5):1-8. doi: 10.1055/s-0044-1786854. Epub 2024 May 19. Arq Neuropsiquiatr. 2024. PMID: 38763144 Free PMC article.
The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.
Neves LM, Pinto M, Zin OA, Cunha DP, Agonigi BNS, Motta FL, Gomes LHF, Horovitz DDG, Almeida DC Jr, Malacarne J, Guida L, Braga A, Carvalho AB, Pereira E, Rodrigues APS, Sallum JMF, Zin AA, Vasconcelos ZFM. Neves LM, et al. Among authors: sallum jmf. J Community Genet. 2024 Jun;15(3):235-247. doi: 10.1007/s12687-024-00708-9. Epub 2024 May 10. J Community Genet. 2024. PMID: 38730191 Free PMC article.
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.
66 results