Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome-Reference-Cited by-同舟云学术

Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome

Published:2021-05-07 Issue:3 Volume:187 Page:349-356
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Josahkian Juliana Alves¹²^ORCID,Brusius‐Facchin Ana Carolina³^ORCID,Netto Alice Brinckmann Oliveira³⁴⁵^ORCID,Leistner‐Segal Sandra³⁴^ORCID,Málaga Diana Rojas³⁶^ORCID,Burin Maira Graeff³^ORCID,Michelin‐Tirelli Kristiane³^ORCID,Trapp Franciele Barbosa³^ORCID,Cardoso‐dos‐Santos Augusto César²⁴^ORCID,Ribeiro Erlane Marques⁷^ORCID,Kim Chong Ae⁸^ORCID,Siqueira Ana Cecília Menezes⁹^ORCID,Santos Mara Lucia¹⁰^ORCID,Valle Daniel Almeida¹⁰^ORCID,Silva Raquel Tavares Boy¹¹^ORCID,Horovitz Dafne Dain Gandelman¹²^ORCID,Medeiros Paula Frassinetti Vasconcelos¹³^ORCID,Souza Carolina Fischinger Moura³^ORCID,Giuliani Liane de Rosso¹⁴^ORCID,Miguel Diego Santana Chaves Geraldo¹⁵,Santana‐da‐Silva Luiz Carlos¹⁶^ORCID,Galera Marcial Francis¹⁷^ORCID,Giugliani Roberto³⁴¹⁸^ORCID

Affiliation:

1. Department of Clinical Medicine Hospital Universitário de Santa Maria (HUSM) Santa Maria Rio Grande do Sul Brazil

2. Postgraduate Program in Genetics and Molecular Biology UFRGS Porto Alegre Rio Grande do Sul Brazil

3. Medical Genetics Service HCPA Porto Alegre Rio Grande do Sul Brazil

4. National Institute on Population Medical Genetics, INAGEMP Porto Alegre Rio Grande do Sul Brazil

5. Graduate in Biological Sciences UFRGS Porto Alegre Rio Grande do Sul Brazil

6. Research and Development Grupo Fleury São Paulo São Paulo Brazil

7. Serviço de Genética Médica Hospital Infantil Albert Sabin Fortaleza Ceará Brazil

8. Genetic Unit, Pediatric Department, HC‐FMUSP São Paulo University São Paulo São Paulo Brazil

9. Instituto de Medicina Integral Professor Fernando Figueira (IMIP) Recife Pernambuco Brazil

10. Neuropediatric Division Hospital Pequeno Príncipe Curitiba Paraná Brazil

11. State University of Rio de Janeiro Rio de Janeiro Rio de Janeiro Brazil

12. Medical Genetics Department National Institute of Women, Children and Adolescents Health Fernandes Figueira—Fiocruz/Reference Center for Rare Diseases Rio de Janeiro Rio de Janeiro Brazil

13. Unidade Acadêmica de Medicina Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande Campina Grande Paraíba Brazil

14. Hospital Universitário Maria Aparecida Pedrossian (HUMAP), UFMS Campo Grande Mato Grosso do Sul Brazil

15. Escola Bahiana de Medicina e Saúde Pública Salvador Bahia Brazil

16. Laboratory of Innate Errors of Metabolism Institute of Biological Sciences, Federal University of Pará Belém Pará Brazil

17. Department of Pediatrics Faculty of Medicine, Federal University of Mato Grosso Cuiabá Mato Grosso Brazil

18. Department of Genetics UFRGS Porto Alegre Rio Grande do Sul Brazil

Funder

Hospital de Clínicas de Porto Alegre

Instituto Nacional de Genética Médica Populacional

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31915

Reference25 articles.

1. Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

2. Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

3. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

4. The high spontaneous mutation rate: Is it a health risk?

5. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

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4. Corrigendum Neurocutaneous syndromes in Art and Antiquities. Am J Med Genet C. 2021;187(3):349–356. Doi:10.1002/ajmg.c.31915″;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-04-11

5. Separating gene clustering in the rare mucopolysaccharidosis disease;Journal of Applied Genetics;2022-03-24