Detalhe da pesquisa
1.
Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).
Int J Mol Sci
; 23(18)2022 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142745
2.
Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service.
Reprod Biomed Online
; 36(2): 154-163, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203382
3.
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.
Prenat Diagn
; 37(2): 201-205, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27943351
4.
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
Hum Mutat
; 34(8): 1080-4, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649991
5.
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
Hum Mutat
; 32(4): 467-75, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21305657
6.
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Eur J Hum Genet
; 24(4): 469-78, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014425
7.
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Eur J Hum Genet
; 20(10): 1096-100, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510846