Detalhe da pesquisa
1.
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
J Assist Reprod Genet
; 40(6): 1381-1390, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154838
2.
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Genet Med
; 23(4): 720-731, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303968
3.
Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.
J Med Genet
; 55(2): 131-136, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754700
4.
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Mol Genet Genomic Med
; 11(9): e2219, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353886
5.
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.
Eur J Hum Genet
; 22(5): 711-2, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24022303
6.
Data from artificial models of mitochondrial DNA disorders are not always applicable to humans.
Cell Rep
; 7(4): 933-4, 2014 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24856293