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Year | Number of Results |
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2020 | 1 |
2022 | 2 |
2023 | 4 |
2024 | 1 |
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Page 1
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.
Pediatr Res. 2024 Apr;95(5):1346-1355. doi: 10.1038/s41390-023-03000-7. Epub 2024 Jan 5.
Pediatr Res. 2024.
PMID: 38182823
LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF.
Dangoni GD, Teixeira ACB, Vince CSC, Novak EM, Gimenez TM, Maschietto M, Odone Filho V, Krepischi ACV.
Dangoni GD, et al.
J Dev Orig Health Dis. 2023 Feb;14(1):140-145. doi: 10.1017/S2040174422000526. Epub 2022 Sep 26.
J Dev Orig Health Dis. 2023.
PMID: 36154949
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Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV.
Pires SF, et al.
Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3.
Pediatr Blood Cancer. 2020.
PMID: 32748512
No abstract available.
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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Quaio CRDC, Ceroni JRM, Pereira MA, Teixeira ACB, Yamada RY, Cintra VP, Perrone E, De França M, Chen K, Minillo RM, Biondo CA, de Mello MRB, Moura LR, do Nascimento ATB, de Oliveira Pelegrino K, de Lima LB, do Amaral Virmond L, Moreno CA, Prota JRM, de Araujo Espolaor JG, Silva TYT, Moraes GHI, de Oliveira GS, Moura LMS, Caraciolo MP, Guedes RLM, Gretschischkin MC, Chazanas PLN, Nakamura CNI, de Souza Reis R, Toledo CM, Lage FSD, de Almeida GB, do Nascimento Júnior JB, Cardoso MA, de Paula Azevedo V, de Almeida TF, Cervato MC, de Oliveira Filho JB.
Quaio CRDC, et al.
Hum Genomics. 2023 Nov 16;17(1):102. doi: 10.1186/s40246-023-00549-6.
Hum Genomics. 2023.
PMID: 37968704
Free PMC article.
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A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.
Dangoni GD, Teixeira ACB, Aguiar TF, Sugayama SMM, Filho VO, Bertola DR, Krepischi ACV.
Dangoni GD, et al.
Pediatr Blood Cancer. 2023 Jul;70(7):e30311. doi: 10.1002/pbc.30311. Epub 2023 Mar 25.
Pediatr Blood Cancer. 2023.
PMID: 36965188
No abstract available.
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Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.
Andrade PV, Santos JM, Teixeira ACB, Sogari VF, Almeida MS, Callegari FM, Krepischi ACV, Oliveira ASB, Vainzof M, Silva HCA.
Andrade PV, et al. Among authors: teixeira acb.
Genes (Basel). 2023 Jun 27;14(7):1360. doi: 10.3390/genes14071360.
Genes (Basel). 2023.
PMID: 37510264
Free PMC article.
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Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC, Coelho AVC, Moura LMS, Guedes RLM, Chen K, Ceroni JRM, Minillo RM, Caraciolo MP, Reis RS, de Azevedo BMC, Nobrega MS, Teixeira ACB, Martinelli Lima M, da Mota TR, da Matta MC, Colichio GBC, Roncalho AL, Ferreira AFM, Campilongo GP, Perrone E, Virmond LDA, Moreno CA, Prota JRM, de França M, Cervato MC, de Almeida TF, de Oliveira Filho JB.
Quaio CRAC, et al.
Front Genet. 2022 Aug 30;13:921324. doi: 10.3389/fgene.2022.921324. eCollection 2022.
Front Genet. 2022.
PMID: 36147510
Free PMC article.
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