Literature DB >> 29860645

Clusters of genetic diseases in Brazil.

Gabriela Costa Cardoso1, Marcelo Zagonel de Oliveira2, Vanessa Rodrigues Paixão-Côrtes3, Eduardo Enrique Castilla4,5, Lavínia Schuler-Faccini6,7.   

Abstract

The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.

Entities:  

Keywords:  Congenital anomalies; Endogamy; Genetic isolates; Rare diseases; Rumors

Year:  2018        PMID: 29860645      PMCID: PMC6325042          DOI: 10.1007/s12687-018-0369-1

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  27 in total

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7.  [New christians in the Northeast area and the dwarfs of Orobó, Pernambuco, Brazil: a the molecular genetic linked to History of Brazil].

Authors:  Gil Guerra Júnior
Journal:  Arq Bras Endocrinol Metabol       Date:  2006-03-16

Review 8.  Multiple mutations responsible for frequent genetic diseases in isolated populations.

Authors:  Joël Zlotogora
Journal:  Eur J Hum Genet       Date:  2007-01-10       Impact factor: 4.246

9.  Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003.

Authors:  Zvi Laron
Journal:  J Clin Endocrinol Metab       Date:  2004-03       Impact factor: 5.958

10.  [Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].

Authors:  Alexander A de Lima Jorge; Hamilton C de Menezes Filho; Theresa S Soares Lins; Dulce Rondini Guedes; Durval Damiani; Nuvarte Setian; Ivo J Prado Arnhold; Berenice B de Mendonça
Journal:  Arq Bras Endocrinol Metabol       Date:  2006-03-16
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  6 in total

1.  Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).

Authors:  Têmis Maria Félix; Bibiana Mello de Oliveira; Milena Artifon; Isabelle Carvalho; Filipe Andrade Bernardi; Ida V D Schwartz; Jonas A Saute; Victor E F Ferraz; Angelina X Acosta; Ney Boa Sorte; Domingos Alves
Journal:  Orphanet J Rare Dis       Date:  2022-02-24       Impact factor: 4.123

2.  So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.

Authors:  Reinaldo Luna de Omena Filho; Reginaldo José Petroli; Fernanda Caroline Soardi; Débora de Paula Michelatto; Taís Nitsch Mazzola; Helena Fabbri-Scallet; Maricilda Palandi de Mello; Susane Vasconcelos Zanotti; Ida Cristina Gubert; Isabella Monlleo
Journal:  Ital J Pediatr       Date:  2022-06-10       Impact factor: 3.288

Review 3.  Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

Authors:  Roberto Rodríguez-Labrada; Ana Carolina Martins; Jonathan J Magaña; Yaimeé Vazquez-Mojena; Jacqueline Medrano-Montero; Juan Fernandez-Ruíz; Bulmaro Cisneros; Helio Teive; Karen N McFarland; Maria Luiza Saraiva-Pereira; César M Cerecedo-Zapata; Christopher M Gomez; Tetsuo Ashizawa; Luis Velázquez-Pérez; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2020-06       Impact factor: 3.847

4.  Targeted sequencing identifies novel variants in common and rare MODY genes.

Authors:  Lucas S de Santana; Lilian A Caetano; Aline D Costa-Riquetto; Pedro C Franco; Renata P Dotto; André F Reis; Letícia S Weinert; Sandra P Silveiro; Marcio F Vendramini; Flaviene A do Prado; Giovanna C P Abrahão; Ana Gregória F P de Almeida; Maria da G Rodrigues Tavares; Wagner Rodrigo B Gonçalves; Augusto C Santomauro Junior; Bruno Halpern; Alexander A L Jorge; Marcia Nery; Milena G Teles
Journal:  Mol Genet Genomic Med       Date:  2019-10-08       Impact factor: 2.183

5.  Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.

Authors:  Luiza Monteavaro Mariath; Ana Elisa Kiszewski; Jeanine Aparecida Frantz; Marina Siebert; Ursula Matte; Lavínia Schuler-Faccini
Journal:  An Bras Dermatol       Date:  2021-02-02       Impact factor: 1.896

6.  Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.

Authors:  Gabriela Roldão Correia-Costa; Ilária Cristina Sgardioli; Ana Paula Dos Santos; Tânia Kawasaki de Araujo; Rodrigo Secolin; Iscia Lopes-Cendes; Vera Lúcia Gil-da-Silva-Lopes; Társis Paiva Vieira
Journal:  Genet Mol Biol       Date:  2022-02-28       Impact factor: 2.087

  6 in total

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