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.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet
; 88(2): 113-125, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37807935
3.
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
J Pediatr
; 265: 113841, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995928
4.
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
5.
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.
Pediatr Res
; 95(5): 1346-1355, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182823
6.
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
7.
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
8.
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.
J Pediatr
; 252: 56-60.e2, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067875
9.
SCAF4-related syndromic intellectual disability.
Am J Med Genet A
; 191(2): 570-574, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333968
10.
Functional assessment of donated human embryos for the generation of pluripotent embryonic stem cell lines.
Reprod Biomed Online
; 46(3): 491-501, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737274
11.
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
12.
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
13.
Genetic investigation of syndromic forms of obesity.
Int J Obes (Lond)
; 46(9): 1582-1586, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35597848
14.
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
15.
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
16.
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
Ann Hum Genet
; 85(1): 18-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761927
17.
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
18.
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
19.
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
20.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988290