Results 111 to 120 of about 4,572,851 (176)

PREIMPLANTATION GENETIC TESTING: 30 years of preimplantation genetic testing [PDF]

Reproduction, 2020
openaire   +1 more source

‘When diagnostics become prevention’: A patient's perspective on Darier's disease

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Fauve C. A. P. van Veen, Silke M. J. C. J. Koster, Antoni H. Gostyński   +2 more
wiley   +1 more source

Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders.

, 1996
Preimplantation genetic testing (PGT) on embryos from couples at risk for Huntington disease can achieve disease prevention in offspring without disclosure of parental genotype. This strategy may also be applicable to other extremely deleterious dominant
Black, S H, Handyside, A, Nance, W E, Schulman, J D   +3 more
core   +1 more source

Serum Response Factor Cooperates With Progesterone Receptor to Regulate Oviductal Smooth Muscle Gene Expression During Preimplantation Embryo Transport

The FASEB Journal, Volume 40, Issue 20, 31 October 2026.
Oviductal smooth muscle contractions are important for preimplantation embryo transport under the regulation of steroid hormone signaling. Deletion of serum response factor (Srf) in progesterone receptor (Pgr)‐expressing cells leads to differential expression of 1670 genes in the mouse oviduct, 306 of which are directly bound by SRF.
Peter F. Lais, Ryan M. Marquardt, San‐Pin Wu, John P. Lydon, Francesco J. DeMayo   +4 more
wiley   +1 more source

Preimplantation genetic testing for aneuploidy

, 2019
This review summarises the current knowledge on preimplantation genetic testing for aneuploidy (PGT-A). Selection and transfer of euploid embryos aim to improve live birth rate (LBR) per embryo transfer, but fluorescence in situ hybridisation-based PGT-A
Kjartansdottir, Kristin Ros, Holmqvist, Viktoria, Toft, Christian Liebst Frisk; id_orcid, Hnida, Christina, Ernst, Anja, Diemer, Tue, Petersen, Morten Rønn, Ingerslev, Hans Jakob, Toft, Christian Liebst Frisk, Pedersen, Inge Søkilde; id_orcid, Pinborg, Anja, Roos, Laura Kristine Soenderberg, Pedersen, Inge Søkilde, Løssl, Kristine, Dunø, Morten   +14 more
core   +1 more source

The Maternal Blood Transcriptome Reflects Molecular Signatures Associated With Large Offspring Syndrome and Other Adverse Pregnancy Outcomes in Cattle

The FASEB Journal, Volume 40, Issue 20, 31 October 2026.
Blood samples from pregnant heifers carrying in vitro‐produced embryos were analyzed for RNA‐sequencing to test whether maternal blood transcriptome could be predictive of large offspring syndrome, stillbirth, and abortion compared with controls.
Tatiane S. Maia, Maria B. Rabaglino, Rebecca Krisher, Paula Rodriguez‐Villamil, Jeniffer Pamela J. Laguna, Jeniffer F. Escoto, Yanping Zhang, Abigail J. Sproull, Peter J. Hansen   +8 more
wiley   +1 more source

Preimplantation genetic screening [PDF]

, 2018
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child.
Harper, JC
core  

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

Frontiers in Genetics
Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency of ...
Valeria A. Zagaynova, Yulia A. Nasykhova, Ziravard N. Tonyan, Maria M. Danilova, Natalya M. Dvoynova, Tatyana E. Lazareva, Tatyana E. Ivashchenko, Elena S. Shabanova, Inna O. Krikheli, Elena A. Lesik, Olesya N. Bespalova, Igor Yu. Kogan, Andrey S. Glotov   +12 more
doaj   +1 more source

Preimplantation genetic testing: A narrative review

Porto Biomedical Journal
Abstract Preimplantation genetic testing (PGT) is a diagnostic procedure that has become a powerful complement to assisted reproduction techniques. PGT has numerous indications, and there is a wide range of techniques that can be used, each with advantages and limitations that should be considered before choosing the more adequate one.
Sofia L. E. Fernandes, Filipa A. G. de Carvalho   +1 more
openaire   +2 more sources

Prevalence of XXY karyotypes in human blastocysts: multicentre data from 7549 trophectoderm biopsies obtained during preimplantation genetic testing cycles in IVF

, 2018
Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A ...
Carlo Foresta, Antonio Capalbo, Rienzi, Laura, Laura Rienzi, Vizziello, Damiano, Ferlin, Alberto, Levi Setti, Paolo Emanuele, Filippo Maria Ubaldi, Rossella Mazzilli, Mazzilli, Rossella, Capalbo, Antonio, Danilo Cimadomo, Livi, Claudia, Claudia Livi, Alberto Ferlin, Foresta, Carlo, rienzi, laura francesca, Cimadomo, Danilo, Damiano Vizziello, Ubaldi, Filippo Maria, Paolo Emanuele Levi Setti   +20 more
core   +1 more source