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14 results

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Page 1
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Quaio CRDC, Moreira CM, Novo-Filho GM, Sacramento-Bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, da Silva RA, Santos MNP, de Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, E Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, de Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, de Carvalho MHB, de Souza AWS, Andrade LEC, Chauffaille ML, Perazzio ADSB, Catelani ALPM, Mitne-Neto M, Kim CA, Baratela WADR. Quaio CRDC, et al. Among authors: novo filho gm. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30. Am J Med Genet C Semin Med Genet. 2020. PMID: 33258288
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio CRDC, Obando MJR, Perazzio SF, Dutra AP, Chung CH, Moreira CM, Novo Filho GM, Sacramento-Bobotis PR, Penna MG, Souza RRF, Cintra VP, Carnavalli JEP, Silva RAD, Santos MNP, Paixão D, Baratela WADR, Olivati C, Spolador GM, Pintao MC, Fornari ARDS, Burger M, Ramalho RF, Pereira OJE, Ferreira ENE, Mitne-Neto M, Kim CA. Quaio CRDC, et al. Among authors: novo filho gm. Genet Mol Biol. 2021 Sep 29;44(4):20210061. doi: 10.1590/1678-4685-GMB-2021-0061. eCollection 2021. Genet Mol Biol. 2021. PMID: 34609444 Free PMC article.
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. Among authors: novo filho gm. 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.
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.
Zanardo ÉA, Dutra RL, Piazzon FB, Dias AT, Novo-Filho GM, Nascimento AM, Montenegro MM, Damasceno JG, Madia FAR, da Costa TVMM, Melaragno MI, Kim CA, Kulikowski LD. Zanardo ÉA, et al. Among authors: novo filho gm. Clinics (Sao Paulo). 2017 Oct;72(9):526-537. doi: 10.6061/clinics/2017(09)02. Clinics (Sao Paulo). 2017. PMID: 29069255 Free PMC article.
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Zanardo ÉA, et al. Among authors: novo filho gm. J Mol Diagn. 2020 Aug;22(8):1041-1049. doi: 10.1016/j.jmoldx.2020.05.007. Epub 2020 Jun 1. J Mol Diagn. 2020. PMID: 32497716 Free article.
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC. Zanoteli E, et al. Among authors: novo filho gm. Clin Neurol Neurosurg. 2020 May;192:105734. doi: 10.1016/j.clineuro.2020.105734. Epub 2020 Feb 10. Clin Neurol Neurosurg. 2020. PMID: 32065942
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. Among authors: novo filho gm. 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
14 results