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.
Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?
J Assist Reprod Genet
; 37(7): 1675-1683, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483686
3.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(6): 403-412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121677
4.
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
5.
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
6.
Evolution of post-pulmonary vein isolation atrial fibrillation inducibility at redo ablation: Electrophysiological evidence of extra-pulmonary vein substrate progression.
Heart Rhythm
; 16(8): 1160-1166, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30818093
7.
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
BMC Med Genet
; 8: 22, 2007 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17448246
8.
Cervical cancer screening in low-resource settings: a smartphone image application as an alternative to colposcopy.
Int J Womens Health
; 9: 455-461, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28790867
9.
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
10.
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
Eur J Hum Genet
; 18(5): 533-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19935833
11.
Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
Fertil Steril
; 90(2): 443.e7-12, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17953949
12.
Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis.
J Assist Reprod Genet
; 20(4): 153-6, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12762414