0000000000207806

AUTHOR

Mónica Roselló

showing 2 related works from this author

Prevalence of pathogenic copy number variants among children conceived by donor oocyte.

2021

AbstractDevelopment of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medical procedures. We have retrospectively analyzed both the fertilization method and the microarray results in all those children born between 2010 and 2019 with multiple congenital anomalies, developmental delay and/or autistic spectrum disorder (n = 486) referred for array study in our center. This analysis showed a significant excess of pathogenic copy number variants among those patients conceived after in vitro fertilization with donor …

Male0301 basic medicineInfertilityDNA Copy Number VariationsReproductive Techniques AssistedMicroarraymedicine.medical_treatmentScienceDiseasesPrenatal diagnosisFertilization in VitroReproductive technologyBioinformaticsPolymorphism Single NucleotideRisk AssessmentArticle03 medical and health sciences0302 clinical medicineHuman fertilizationGeneticsPrevalenceHumansMedicineGenetic Predisposition to DiseaseCopy-number variationChild030219 obstetrics & reproductive medicineMultidisciplinaryIn vitro fertilisationMolecular medicinebusiness.industryQROocytemedicine.diseasePatologia030104 developmental biologymedicine.anatomical_structureRisk factorsChromosomes Human Pair 2KaryotypingOocytesMedicineFemalebusinessGenètica
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Expression of aquaporins early in human pregnancy

2011

Abstract Background Aquaporins (AQPs) constitute a family of channel proteins implicated in transmembrane water transport. Thirteen different AQPs (AQP0–12) have been described but their precise biologic function still remains unclear. AQPs 1, 3, 4, 8, and 9 expression has been described in human chorion, amnion and placenta; however, AQP4 is the only that has been identified in the first trimester of human pregnancy. Objective To assess multiplicity of AQPs expression from 10th to 14th week gestation. Population and methods Chorionic villi samples (CVS) collected in pregnant women for prenatal diagnosis were analysed by real time-PCR to assess cDNA expression of AQPs 1, 2, 3, 4, 5, 6, 7, 8…

Adultmedicine.medical_specialtyKaryotypePopulationChorionic villus samplingPrenatal diagnosisBiologyAquaporinsAndrologyPregnancyPlacentaInternal medicinemedicineHumansRNA Messengereducationreproductive and urinary physiologyPregnancyeducation.field_of_studyWater transportmedicine.diagnostic_testObstetrics and Gynecologymedicine.diseasePregnancy Trimester Firstmedicine.anatomical_structureEndocrinologyOrgan Specificityembryonic structuresPediatrics Perinatology and Child HealthChorionic villiFemaleChorionic VilliTrisomyEarly Human Development
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