Maver A

No ORCID on file · 4 papers in corpus
2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Genome medicine ·doi:10.1186/s13073-024-01339-y

BackgroundWe previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in…

2024
Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles
·doi:10.1101/2024.01.14.24301100

Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-in…

2021
RETRACTED: Transcriptome study of receptive endometrium in overweight and obese women shows important expression differences in immune response and inflammatory pathways in women who do not conceive.
PloS one ·doi:10.1371/journal.pone.0261873

Obesity and being overweight are growing worldwide health problems that also affect women of reproductive age. They impair women's fertility and are associated with lower IVF success rates. The mechanism by which increased body weight disru…

2015
No specific gene expression signature in human granulosa and cumulus cells for prediction of oocyte fertilisation and embryo implantation.
PloS one ·doi:10.1371/journal.pone.0115865

In human IVF procedures objective and reliable biomarkers of oocyte and embryo quality are needed in order to increase the use of single embryo transfer (SET) and thus prevent multiple pregnancies. During folliculogenesis there is an intens…