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Editorial & Opinion

Living with alveolar capillary dysplasia with misalignment of the pulmonary veins-case report.

Autor: Cohen RWF; Instituto Fernandes Figueira IFF/FIOCRUZ, Rio de Janeiro, RJ, Brazil.; Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil., Sztajnbok F; Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil.; Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil., de Marca EL; Hospital Pediátrico Jutta Batista, Rede Dor Rio de Janeiro, RJ, Brazil., Capelozzi VL; Universidade do Estado de São Paulo, São Paulo, SP, Brazil., Horovitz DDG; Instituto Fernandes Figueira IFF/FIOCRUZ, Rio de Janeiro, RJ, Brazil., Nunez E; Hospital Pediátrico Jutta Batista, Rede Dor, Rio de Janeiro, RJ, Brazil., Galvão HCR; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Sobreira J; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Bermeo DCS; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Folescu TW; Instituto Fernandes Figueira IFF/FIOCRUZ, Rio de Janeiro, RJ, Brazil.

Publikováno v: Pediatric pulmonology [Pediatr Pulmonol] 2024 Oct 16. Date of Electronic Publication: 2024 Oct 16.

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Akademický článek

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Autor: Mendes C; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Loureiro T; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Villela D; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Bittencourt MI; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Sobreira J; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Bermeo D; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Gomes M; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Alencar D; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., de Castro LSS; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Fock RA; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Tinoco ML; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Galvão H; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Scapulatempo-Neto C; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Schiavetti K; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Senerchia AA; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil., Gurgel MHC; Diagnósticos da América S.A., DASA, São Paulo, SP, Brazil.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Jun 07; Vol. 40, pp. 101100. Date of Electronic Publication: 2024 Jun 07 (Print Publication: 2024).

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Akademický článek

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

Autor: Migliavacca MP; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Sobreira J; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Hospital Infantil Sabará, São Paulo, Brazil., Bermeo D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Gomes M; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Alencar D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Sussuchi L; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Souza CA; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Silva JS; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Kroll JE; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Burger M; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Guarischi-Sousa R; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Villela D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Yamamoto GL; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Instituto da Criança, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, Brazil., Milanezi F; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Horigoshi N; Hospital Infantil Sabará, São Paulo, Brazil., Cesar RG; Hospital Infantil Sabará, São Paulo, Brazil., de Carvalho WB; Instituto da Criança, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, Brazil., Honjo RS; Instituto da Criança, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, Brazil., Bertola DR; Hospital Infantil Sabará, São Paulo, Brazil., Kim CA; Instituto da Criança, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, Brazil., de Souza L; Hospital das Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Procianoy RS; Hospital das Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Silveria RC; Hospital das Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Rosenberg C; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Giugliani R; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Hospital das Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Campana GA; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Scapulatempo-Neto C; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Sobreira N; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63544. Date of Electronic Publication: 2024 Jan 23.

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Akademický článek

STRENGTHENING THE EVIDENCE: RAP1B GENE ASSOCIATION WITH SYNDROMIC THROMBOCYTOPENIA

Autor: Dias, G, Torresan, C, Luciano, MCDS, Salazar, D, Bulchi, J, Sobreira, J, Loureiro, T, Villela, D, Zalcberg, I

Publikováno v: In Hematology, Transfusion and Cell Therapy October 2024 46 Supplement 4:S446-S447

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Akademický článek

NECROSE DE MEDULA EM PACIENTE COM RECIDIVA DE LINFOMA DIFUSO DE GRANDES CÉLULAS B: RELATO DE CASO

Autor: Rosa, GLC, Antoniolli, MEP, Bortolheiro, TC, Bandeira, MM, Malagutti, F, Nunes, FGL, Passolongo, M, Marcon, BG, Sobreira, J

Publikováno v: In Hematology, Transfusion and Cell Therapy October 2024 46 Supplement 4:S277-S278

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Akademický článek

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.

Autor: Zahra Q; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Çakmak Ç; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey., Koprulu M; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.; Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey., Shuaib M; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Kalsner L; Departments of Neurology and Pediatrics, University of Connecticut School of Medicine and Connecticut Children's Medical Center, Farmington, CT, USA., Sobreira J; Division of Genetics, Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Malik S; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. malik@qau.edu.pk., Tolun A; Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey. tolunasli@itu.edu.tr.; Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey. tolunasli@itu.edu.tr.

Publikováno v: Journal of human genetics [J Hum Genet] 2020 Dec; Vol. 65 (12), pp. 1115-1123. Date of Electronic Publication: 2020 Jul 31.

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