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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 2
2008 4
2009 1
2011 1
2012 1
2013 1
2014 4
2015 3
2016 8
2017 1
2018 5
2019 9
2020 7
2021 9
2022 5
2023 7
2024 3

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59 results

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Page 1
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Montenegro YHA, et al. Among authors: souza cfm. Genet Mol Biol. 2024 Mar 8;47(1):e20230285. doi: 10.1590/1678-4685-GMB-2023-0285. eCollection 2024. Genet Mol Biol. 2024. PMID: 38488524 Free PMC article.
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM. Guelbert N, et al. Among authors: fischinger moura de souza c. Mol Genet Metab Rep. 2024 Feb 1;38:101060. doi: 10.1016/j.ymgmr.2024.101060. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469103 Free PMC article.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: de souza cfm. Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print. Mol Neurobiol. 2024. PMID: 38180615
Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Zilber S, Woleben K, Johnson SC, de Souza CFM, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S. Zilber S, et al. Among authors: de souza cfm. Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0. Orphanet J Rare Dis. 2023. PMID: 37667390 Free PMC article.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.
Portich JP, Ribeiro AS, Rodrigues Taniguchi AN, Backes A, de Souza CFM, Kieling CO, Scherer FF, de Oliveira Poswar F, Leipnitz I, Doederlein Schwartz IV, Sekine L, Rigoni LDC, Marquardt da Silveira L, de Almeida Furlanetto M, Adami MR, Breunig RC, Guedes RR, do Amaral SN, Gonçalves Vieira SM, de Brum Soares T, Silva TO, da Rocha Silla LM, Astigarraga CC, Paz AA, Daudt LE. Portich JP, et al. Among authors: de souza cfm. J Pediatr Hematol Oncol. 2023 Oct 1;45(7):416-422. doi: 10.1097/MPH.0000000000002738. Epub 2023 Aug 3. J Pediatr Hematol Oncol. 2023. PMID: 37539993 Review.
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Félix TM, Fischinger Moura de Souza C, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R. Félix TM, et al. Among authors: fischinger moura de souza c. Int J Equity Health. 2023 Jan 13;22(1):11. doi: 10.1186/s12939-022-01809-y. Int J Equity Health. 2023. PMID: 36639662 Free PMC article. Review.
59 results