Search results for "Single gene"

showing 3 items of 3 documents

Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing

2018

Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in t…

0301 basic medicineMalePregnancy RateFertilization in VitroBiology03 medical and health sciencessymbols.namesake0302 clinical medicinePregnancymedicineGeneticsSingle Embryo TransferHumansGenetic TestingAlleleGenetics (clinical)Preimplantation DiagnosisGenetic testingGeneticsWhole Genome AmplificationSanger sequencingComparative Genomic Hybridization030219 obstetrics & reproductive medicinePreimplantation genetic testingSingle gene disordermedicine.diagnostic_testTripeptidyl-Peptidase 1HaplotypeMultiple displacement amplificationObstetrics and GynecologyGeneral MedicineAneuploidyHuman geneticsWhole genome amplification030104 developmental biologyBlastocystReproductive MedicineEmbryosymbolsMicrosatelliteFemaleNucleic Acid Amplification TechniquesDevelopmental BiologyJournal of Assisted Reproduction and Genetics
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Different types of intestinal atresia in identical twins

2008

The authors present a previously unreported association of different types of intestinal atresia in identical low-birth-weight twins. Both babies were affected by duodenal atresia, associated in the first case with a complete mucosal duodenal membrane and in the second one with an "apple-peel" jejunal atresia. These occurrences may suggest that they were either the consequence of linkage of 2 genes or a pleiotropic expression of a single gene responsible for such rare conditions.

AdultAbortion Habitualcongenital hereditary and neonatal diseases and abnormalitiesIntestinal AtresiaPhysiologySingle geneInfant Premature DiseasesAnastomosisModels BiologicalDuodenal atresiaDuodenal atresia intestinal atresiamonozygotic twins newbornnewbornPregnancyDiseases in TwinsmedicineHumansInfant Very Low Birth Weightintestinal malformationGeneLaparotomybusiness.industrySettore MED/20 - Chirurgia Pediatrica E InfantileAnastomosis SurgicalIntestinal atresiaInfant NewborntwinsJejunal DiseasesTwins MonozygoticGeneral Medicinemedicine.diseaseJejunumJejunal atresiaPediatrics Perinatology and Child HealthFemaleParenteral Nutrition TotalSurgeryDuodenal ObstructionIdentical twinsbusinessInfant PrematureIntestinal VolvulusJournal of Pediatric Surgery
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New options in assisted reproduction technology: the Cryotop method of oocyte vitrification

2008

The Cryotop vitrification method has been shown to be a very useful tool for oocyte cryopreservation, giving excellent results regarding survival and clinical outcome. There are several clinical situations in which oocyte cryopreservation provides solutions that have not been available to date. This report describes three of these situations: (i) a low-responder patient who needed a single gene diagnosis due to the presence of a genetic disease; (ii) a patient undergoing endometrial bleeding on the day of oocyte retrieval who was also affected by a genetic disorder; and (iii) a patient who failed to become pregnant after the donation of vitrified oocytes and subsequently had the re-vitrifie…

AdultMaleReproductive Techniques Assistedmedia_common.quotation_subjectSingle geneBiologyPreimplantation genetic diagnosisPolymerase Chain ReactionEmbryo Culture TechniquesAndrologyEndometriumPregnancySurplus embryosEmbryo Culture TechniquemedicineHumansVitrificationPreimplantation Diagnosismedia_commonCryopreservationPregnancy OutcomeObstetrics and GynecologyOocyte cryopreservationOocyteHuntington Diseasemedicine.anatomical_structureReproductive MedicineOocytesFemaleReproductionPolycystic Ovary SyndromeDevelopmental BiologyReproductive BioMedicine Online
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