Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing (2021)
- Authors:
- USP affiliated authors: MORGANTE, ANGELA MARIA VIANNA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; ROSENBERG, CARLA - IB ; VILLELA, DARINE CHRISTINA MAIA - IB ; BARROS, JULIANA SOBRAL DE - IB ; COSTA, SILVIA SOUZA DA - IB ; AGUIAR, TALITA FERREIRA MARQUES - IB
- Unidade: IB
- DOI: 10.1111/ahg.12402
- Subjects: GENOMAS; ANORMALIDADES CROMOSSÔMICAS; SEQUÊNCIA DO DNA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Annals of human genetics
- ISSN: 1469-1809
- Volume/Número/Paginação/Ano: v. 85, n. 1, p. 18-26, Jan. 2021
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
VILLELA, Darine et al. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing. Annals of human genetics, v. 85, n. Ja 2021, p. 18-26, 2021Tradução . . Disponível em: https://doi.org/10.1111/ahg.12402. Acesso em: 13 fev. 2026. -
APA
Villela, D., Barros, J. S. de, Costa, S. S. da, Aguiar, T. F. M., Campagnari, F., Vianna-Morgante, A. M., et al. (2021). Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing. Annals of human genetics, 85( Ja 2021), 18-26. doi:10.1111/ahg.12402 -
NLM
Villela D, Barros JS de, Costa SS da, Aguiar TFM, Campagnari F, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing [Internet]. Annals of human genetics. 2021 ; 85( Ja 2021): 18-26.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1111/ahg.12402 -
Vancouver
Villela D, Barros JS de, Costa SS da, Aguiar TFM, Campagnari F, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing [Internet]. Annals of human genetics. 2021 ; 85( Ja 2021): 18-26.[citado 2026 fev. 13 ] Available from: https://doi.org/10.1111/ahg.12402 - Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
- Does increase in genomic microarray resolution result in increased diagnostic yield?
- 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
- Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways
- Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
- Insights in osteosarcoma by proton nuclear magnetic resonance serum metabonomics
- Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability
- Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene
- Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
Informações sobre o DOI: 10.1111/ahg.12402 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
