KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability (2018)
- Autores:
- Autores USP: COSTA, SILVIA SOUZA DA - IB ; OTTO, PAULO ALBERTO - IB ; ROSENBERG, CARLA - IB ; BERTOLA, DÉBORA ROMEO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB
- Unidade: IB
- DOI: 10.1038/hgv.2018.10
- Assuntos: MICROCEFALIA; DEFICIÊNCIA MENTAL; MUTAÇÃO GENÉTICA; DELEÇÃO DE GENES; ANORMALIDADES CONGÊNITAS; DEFICIÊNCIA VISUAL; CÉLULAS-TRONCO
- Idioma: Inglês
- Imprenta:
- Fonte:
- Título do periódico: Human Genome Variation
- ISSN: 2054-345X
- Volume/Número/Paginação/Ano: v. 5, art. 18010, p. 1-3, Mar. 2018
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by-nc-nd
-
ABNT
MALVEZZI, João V. M et al. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, v. 5, p. 1-3, 2018Tradução . . Disponível em: https://doi.org/10.1038/hgv.2018.10. Acesso em: 23 abr. 2024. -
APA
Malvezzi, J. V. M., Magalhaes, I. H., Costa, S. S., Otto, P. A., Rosenberg, C., Bertola, D. R., et al. (2018). KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, 5, 1-3. doi:10.1038/hgv.2018.10 -
NLM
Malvezzi JVM, Magalhaes IH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability [Internet]. Human Genome Variation. 2018 ; 5 1-3.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1038/hgv.2018.10 -
Vancouver
Malvezzi JVM, Magalhaes IH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability [Internet]. Human Genome Variation. 2018 ; 5 1-3.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1038/hgv.2018.10 - Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
- Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
- Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability
- Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
- Does increase in genomic microarray resolution result in increased diagnostic yield?
- Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
- Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X
- Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
- X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation
- An illustrative case of neurofibromatosis type 1 and NF1 microdeletion
Informações sobre o DOI: 10.1038/hgv.2018.10 (Fonte: oaDOI API)
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