Detalhe da pesquisa
1.
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.
Cytogenet Genome Res
; 149(4): 241-246, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27665090
2.
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Am J Med Genet A
; 167A(12): 3197-203, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420477
3.
Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.
BMC Res Notes
; 17(1): 121, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38679724
4.
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.
Mol Syndromol
; 13(6): 527-536, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36660031
5.
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
J Mol Diagn
; 22(8): 1041-1049, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497716
6.
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
Mol Genet Genomic Med
; 8(2): e957, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568707
7.
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.
Mol Genet Genomic Med
; 8(4): e1133, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073752