نتائج البحث

Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.

• Authors : Pillonetto, Daniela Vandresen¹ ; Piovezan, Bruno Zagonel¹; Nichele, Samantha²

• Source: International Journal of Laboratory Hematology. Feb2023, Vol. 45 Issue 1, p82-89. 8p.

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ALS due to a novel TBK1 mutation in Brazil.

• Authors : Gondim, Francisco de Assis Aquino¹ (AUTHOR); Fernandes, José Marcelino Aragão² (AUTHOR); Marques Júnior, Wilson³ (AUTHOR)

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. Nov2022, Vol. 23 Issue 7/8, p620-622. 3p.

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G6PD deficiency in blood donors of Manaus, Amazon Region, northern Brazil.

• Authors : Ferreira, Natália Santos^1,2; Anselmo, Fernanda Cozendey^1,2; Albuquerque, Sérgio Roberto Lopes¹

• Source: International Journal of Laboratory Hematology. Dec2021, Vol. 43 Issue 6, pe290-e293. 4p.

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First report of nt230(del4) mutation in the MDR1 gene in German Shepherds in Southern Brazil.

• Authors : da Rocha Pires, Ananda¹; Gerardi, Daniel²; de Mesquita Tisotti, Tainor¹

Subjects: *GENETIC mutation; *MEMBRANE proteins; *XENOBIOTICSBRAZIL; RIO Grande do Sul (Brazil : State)

• Source: Ciência Rural. 2021, Vol. 51 Issue 10, p1-5. 5p.

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Description of optochin-resistant Streptococcus pneumoniae due to an uncommon mutation in the atpA gene and comparison with previously identified atpC mutants from Brazil.

• Authors : Souza, Aline R. V.^1,2; de Pina, Sandrine E. C. M.¹; Costa, Natália S.¹

• Source: Scientific Reports. 4/12/2021, Vol. 11 Issue 1, p1-10. 10p.

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Comprehensive genomic profiling of Brazilian non‐small cell lung cancer patients (GBOT 0118/LACOG0418).

• Authors : Mascarenhas, Eldsamira^1,2 (AUTHOR) ; Gelatti, Ana Caroline^1,3,4 (AUTHOR); Araújo, Luiz Henrique^1,5,6 (AUTHOR)

• Source: Thoracic Cancer. Mar2021, Vol. 12 Issue 5, p580-587. 8p.

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Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the VAPB gene in Southern Brazil.

• Authors : Trilico, Matheus Luis Castelan¹ (AUTHOR) ; Lorenzoni, Paulo José¹ (AUTHOR); Kay, Cláudia Suemi Kamoi¹ (AUTHOR)

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. May2020, Vol. 21 Issue 3/4, p286-290. 5p.

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IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.

• Authors : Divino Costa, Roseli¹ ; Borsatto Galera, Bianca¹; Costa Rezende, Bianca¹

• Source: Revista Paulista de Pediatria. 2020, Vol. 38, p1-6. 6p.

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Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.

• Authors : Ando, Yukio¹ (AUTHOR) ; Waddington-Cruz, Marcia² (AUTHOR); Sekijima, Yoshiki³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/12/2023, Vol. 18 Issue 1, p1-17. 17p.

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Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil.

• Authors : Carraro, Dirce Maria^1,2 ; Koike Folgueira, Maria Aparecida Azevedo³; Garcia Lisboa, Bianca Cristina¹

Subjects: *GERM cells; *GENETIC mutation; *BREAST cancerBRAZIL

• Source: PLoS ONE. Mar2013, Vol. 8 Issue 3, p1-9. 9p.

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