KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability (2018)
- Authors:
- USP affiliated authors: 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
- Subjects: MICROCEFALIA; DEFICIÊNCIA MENTAL; MUTAÇÃO GENÉTICA; DELEÇÃO DE GENES; ANORMALIDADES CONGÊNITAS; DEFICIÊNCIA VISUAL; CÉLULAS-TRONCO
- Language: Inglês
- Imprenta:
- Source:
- Título: 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: 28 dez. 2025. -
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 2025 dez. 28 ] 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 2025 dez. 28 ] 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
- Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
- Does increase in genomic microarray resolution result in increased diagnostic yield?
- Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
- Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X
- X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation
- The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
Informações sobre o DOI: 10.1038/hgv.2018.10 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
