Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally.
Hum Mol Genet
; 31(21): 3629-3642, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285472
3.
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.
Hum Mol Genet
; 29(21): 3566-3577, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242073
4.
Genetics of infertility: a paradigm shift for medically assisted reproduction.
Hum Reprod
; 38(12): 2289-2295, 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37801292
5.
Lineage segregation in human pre-implantation embryos is specified by YAP1 and TEAD1.
Hum Reprod
; 38(8): 1484-1498, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37295962
6.
On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle.
Mol Hum Reprod
; 28(4)2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35404421
7.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Am J Hum Genet
; 100(3): 488-505, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257691
8.
Iodine Dose of Administered Contrast Media Affects the Level of Radiation-Induced DNA Damage During Cardiac CT Scans.
AJR Am J Roentgenol
; 213(2): 404-409, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31012759
9.
Concurrent whole-genome haplotyping and copy-number profiling of single cells.
Am J Hum Genet
; 96(6): 894-912, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983246
10.
#ESHREjc report: failed fertilization: is genetic incompatibility the elephant in the room?
Hum Reprod
; 38(2): 324-327, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583604
11.
Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial.
Hum Reprod
; 33(9): 1767-1776, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085138
12.
Adjuncts in the IVF laboratory: where is the evidence for 'add-on' interventions?
Hum Reprod
; 32(3): 485-491, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158511
13.
Preimplantation genetic screening 2.0: the theory.
Mol Hum Reprod
; 22(8): 839-44, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256482
14.
The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists.
Mol Hum Reprod
; 22(8): 845-57, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27256483
15.
Human embryonic stem cells show low-grade microsatellite instability.
Mol Hum Reprod
; 20(10): 981-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082980
16.
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.
Hum Reprod
; 29(8): 1603-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25006203
17.
SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss.
Stem Cell Reports
; 19(4): 562-578, 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552632
18.
Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.
Hum Reprod Update
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38805697
19.
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Nat Commun
; 15(1): 1232, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336715
20.
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation.
Hum Mol Genet
; 20(1): 176-85, 2011 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20935170