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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: de carvalho mhb. 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
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD. Huijsdens-van Amsterdam K, et al. Among authors: de carvalho mhb. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899373 Free PMC article.
Validation of QF-PCR for prenatal diagnoses in a Brazilian population.
de Moraes RW, de Carvalho MHB, de Amorim-Filho AG, Francisco RPV, Romão RM, Levi JE, Zugaib M. de Moraes RW, et al. Among authors: de carvalho mhb. Clinics (Sao Paulo). 2017 Jul;72(7):400-404. doi: 10.6061/clinics/2017(07)02. Clinics (Sao Paulo). 2017. PMID: 28792998 Free PMC article.
Congenital diaphragmatic hernia treated via fetal endoscopic tracheal occlusion improves outcome in a middle-income country.
Manfroi A, Bernardes LS, de Oliveira LMC, Peres SV, de Carvalho WB, Tannuri ACA, da Silva MM, Del Bigio JZ, de Amorim Filho AG, de Carvalho MHB, de Francisco RPV, Carvalho MA. Manfroi A, et al. Among authors: de carvalho mhb. J Perinat Med. 2024 Jun 27;52(7):751-758. doi: 10.1515/jpm-2024-0070. Print 2024 Sep 25. J Perinat Med. 2024. PMID: 38926929
18 results