DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation (2020)
- Authors:
- USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; SANTOS, JOSE OLIVEIRA DOS - IB ; OLIVEIRA, DANYLLO FELIPE DE - IB ; COSTA, SILVIA SOUZA DA - IB
- Unidade: IB
- DOI: 10.1016/j.ejmg.2019.103737
- Subjects: GENÉTICA MÉDICA; PESSOAS COM DEFICIÊNCIA INTELECTUAL; METILAÇÃO DE DNA; MUTAÇÃO GENÉTICA
- Keywords: KDM5C; DNA methylation; Intellectual disability; XLID
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Issy les Moulineaux
- Date published: 2020
- Source:
- Título do periódico: European Journal of Medical Genetics
- ISSN: 1769-7212
- Volume/Número/Paginação/Ano: v. 63, n. 3, art.103737, Mar. 2020
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
GUERRA, João V.S et al. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. European Journal of Medical Genetics, v. 63, n. 3, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2019.103737. Acesso em: 18 abr. 2024. -
APA
Guerra, J. V. S., Oliveira-Santos, J., Oliveira, D. F., Leal, G. F., Oliveira, J. R. M., Costa, S. S., et al. (2020). DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. European Journal of Medical Genetics, 63( 3). doi:10.1016/j.ejmg.2019.103737 -
NLM
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation [Internet]. European Journal of Medical Genetics. 2020 ; 63( 3):[citado 2024 abr. 18 ] Available from: https://doi.org/10.1016/j.ejmg.2019.103737 -
Vancouver
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation [Internet]. European Journal of Medical Genetics. 2020 ; 63( 3):[citado 2024 abr. 18 ] Available from: https://doi.org/10.1016/j.ejmg.2019.103737 - Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome
- Insights in osteosarcoma by proton nuclear magnetic resonance serum metabonomics
- Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
- PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl
- Does increase in genomic microarray resolution result in increased diagnostic yield?
- Estudo da deficiência mental de herança ligada ao cromossomo X
- Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X
- Estudos genéticos e funcionais sobre os genes VAPB e VRK1 em duas famílias portadoras de Esclerose Lateral Amiotrófica
- An illustrative case of neurofibromatosis type 1 and NF1 microdeletion
- X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation
Informações sobre o DOI: 10.1016/j.ejmg.2019.103737 (Fonte: oaDOI API)
Download do texto completo
Tipo | Nome | Link | |
---|---|---|---|
2970265_rep.pdf | Direct link |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas