Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing

Author:

Vieira Társis Paiva,Sgardioli Ilária Cristina,Gil-da-Silva-Lopes Vera Lúcia

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Public Health, Environmental and Occupational Health,Epidemiology

Reference29 articles.

1. Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P (2003) DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A117A(1):1–5

2. Brasil Ministério da Saúde (2010) SINASC (Sistema de Informações sobre nascidos vivos). Available at http://tabnet.datasus.gov.br/cgi/tabcgi.exe?sinasc/cnv/nvuf.def . Accessed August 2012

3. Brasil Ministério da Saúde (2011) Coordenação Geral de Informações e Análises Epidemiológicas. Painel de Monitoramento da Mortalidade Infantil e Fetal. Available at http://svs.aids.gov.br/dashboard/mortalidade/infantil.show.mtw . Accessed 3 November 2011

4. Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballin MR, Guitart M (2006) Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/velocardiofacial syndrome. Am J Med Genet 140A:2426–2432

5. Castilla EE, Luquetti DV (2009) Brazil: public health genomics. Public Health Genomics 12:53–58

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