Detalhe da pesquisa
1.
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Chromosome Res
; 32(2): 6, 2024 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504027
2.
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Am J Med Genet A
; 194(3): e63468, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37937525
3.
First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways.
Biochem Genet
; 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38649558
4.
DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.
Mol Genet Genomics
; 298(3): 721-733, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020053
5.
SCAF4-related syndromic intellectual disability.
Am J Med Genet A
; 191(2): 570-574, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333968
6.
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
Neuroendocrinology
; 113(8): 834-843, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758531
7.
Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development.
Int J Mol Sci
; 24(13)2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445641
8.
Genetic investigation of syndromic forms of obesity.
Int J Obes (Lond)
; 46(9): 1582-1586, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35597848
9.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet
; 101(1): 134-141, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664255
10.
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Am J Med Genet A
; 188(9): 2599-2604, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792504
11.
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
Clin Genet
; 100(5): 615-623, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341987
12.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313884
13.
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
Nat Chem Biol
; 15(1): 62-70, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531907
14.
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.
Tumour Biol
; 42(12): 1010428320977124, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33256542
15.
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.
J Med Genet
; 56(8): 543-547, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30301738
16.
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.
Chromosome Res
; 26(3): 191-198, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29752677
17.
A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.
Pediatr Blood Cancer
; 70(7): e30311, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965188
18.
A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.
Hum Genomics
; 10(1): 36, 2016 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863505
19.
Role of rare germline copy number variation in melanoma-prone patients.
Future Oncol
; 12(11): 1345-57, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27020340
20.
Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas.
Histopathology
; 67(3): 410-5, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25600428