Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients-Reference-Cited by-同舟云学术

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients

Published:2020-05-21 Issue:10 Volume:34 Page:2392-2401
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Santiago K.M.¹²^ORCID,Castro L.P.³^ORCID,Neto J.P.D.⁴^ORCID,Nóbrega A.F.¹²^ORCID,Pinto C.A.L.⁵,Ashton‐Prolla P.⁶⁷^ORCID,Pinto e Vairo F.⁸^ORCID,Medeiros P.F.V.⁹^ORCID,Ribeiro E.M.¹⁰^ORCID,Ribeiro B.F.R.¹¹^ORCID,Valle F.F.¹²^ORCID,Doriqui M.J.R.¹³,Leite C.H.B.¹⁴^ORCID,Rocha R.M.¹⁵^ORCID,Moura L.M.S.³^ORCID,Munford V.³^ORCID,Galante P.A.F.¹⁶^ORCID,Menck C.F.M.³^ORCID,Rogatto S.R.¹⁷^ORCID,Achatz M.I.¹⁸^ORCID

Affiliation:

1. Department of Oncogenetics A.C.Camargo Cancer Center São Paulo São Paulo Brazil

2. International Research Center (CIPE) A.C.Camargo Cancer Center São Paulo São Paulo Brazil

3. Department of Microbiology Institute of Biomedical Sciences University of Sao Paulo São Paulo São Paulo Brazil

4. Department of Skin Cancer A.C.Camargo Cancer Center São Paulo São Paulo Brazil

5. Department of Pathology A.C.Camargo Cancer Center São Paulo São Paulo Brazil

6. Medical Genetics Service Hospital de Clínicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil

7. Department of Genetics Federal University of Rio Grande do Sul Porto Alegre Rio Grande do Sul Brazil

8. Center for Individualized Medicine and Department of Clinical Genomics Mayo Clinic Rochester MN USA

9. University Hospital Alcides Carneiro Federal University of Campina Grande Campina Grande Paraíba Brazil

10. Associação Cearense de Doenças Genéticas Fortaleza Ceará Brazil

11. Children’s Hospital Secretaria de Estado de Saúde do Acre Rio Branco Acre Brazil

12. Amazonas Federal University Manaus Amazonas Brazil

13. Hospital Infantil Dr Juvêncio Mattos São Luís Maranhão Brazil

14. Department of Radiation Oncology Instituto do Câncer do Ceará Fortaleza Ceará Brazil

15. Gynecology Department Paulista Medicine School Federal University of São Paulo (UNIFESP) São Paulo São Paulo Brazil

16. Molecular Oncology Center Hospital Sírio‐Libanês São Paulo São Paulo Brazil

17. Department of Clinical Genetics University Hospital Institute of Regional Health Research University of Southern Denmark Vejle Denmark

18. Centro de Oncologia Hospital Sírio‐Libanês São Paulo São Paulo Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.16405

Reference54 articles.

1. Xeroderma Pigmentosum – GeneReviews®– NCBI Bookshelf. URLhttps://www.ncbi.nlm.nih.gov/books/NBK1397/(last accessed: 25 September 2017).

2. Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health

3. Shining a Light on Xeroderma Pigmentosum

4. Nucleotide excision repair syndromes: molecular basis and clinical symptoms

5. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

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