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Page 1
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.
Montenegro MM, Quaio CR, Palmeira P, Gasparini Y, Rangel-Santos A, Damasceno J, Novak EM, Gimenez TM, Yamamoto GL, Ronjo RS, Novo-Filho GM, Chehimi SN, Zanardo EA, Dias AT, Nascimento AM, Costa TVMM, Duarte AJDS, Coutinho LL, Kim CA, Kulikowski LD. Montenegro MM, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1133. doi: 10.1002/mgg3.1133. Epub 2020 Feb 19. Mol Genet Genomic Med. 2020. PMID: 32073752 Free PMC article.
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
Montenegro MM, Camilotti D, Quaio CRDC, Gasparini Y, Zanardo ÉA, Rangel-Santos A, Novo-Filho GM, Francisco G, Liro L, Nascimento A, Chehimi SN, Soares DCQ, Krepischi ACV, Grassi MS, Honjo RS, Palmeira P, Kim CA, Carneiro-Sampaio MMS, Rosenberg C, Kulikowski LD. Montenegro MM, et al. J Pediatr. 2023 Jan;252:56-60.e2. doi: 10.1016/j.jpeds.2022.08.051. Epub 2022 Sep 5. J Pediatr. 2023. PMID: 36067875
LRBA deficiency: a new genetic cause of monogenic lupus.
Liphaus BL, Caramalho I, Rangel-Santos A, Silva CA, Demengeot J, Carneiro-Sampaio MMS. Liphaus BL, et al. Ann Rheum Dis. 2020 Mar;79(3):427-428. doi: 10.1136/annrheumdis-2019-216410. Epub 2019 Dec 18. Ann Rheum Dis. 2020. PMID: 31852671 No abstract available.
14 results