2024
Maternal implications of fetal anomalies: a population-based cross-sectional study
Atwani R, Aziz M, Saade G, Reddy U, Kawakita T. Maternal implications of fetal anomalies: a population-based cross-sectional study. American Journal Of Obstetrics & Gynecology MFM 2024, 6: 101440. PMID: 39089580, DOI: 10.1016/j.ajogmf.2024.101440.Peer-Reviewed Original ResearchCongenital diaphragmatic herniaCongenital heart diseasePresence of fetal anomaliesAdjusted relative risksFetal anomaliesCleft lipMaternal morbidityDiaphragmatic herniaAdjusted risk differencesChromosomal disordersMultiple anomaliesLimb anomaliesHeart diseaseMaternal intensive care unit admissionRisk of severe maternal morbidityAssociated with maternal morbidityCyanotic congenital heart diseaseMultiple fetal anomaliesRisk of SMMAdverse maternal health outcomesIntensive care unit admissionAdverse maternal outcomesPopulation-based cross-sectional studySevere maternal morbidityIncreased absolute riskRing Chromosome 12
Taylor H, Wen J. Ring Chromosome 12. 2024, 191-199. DOI: 10.1007/978-3-031-47530-6_16.Peer-Reviewed Original ResearchP682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders
Saeidian A, Vossaert L, Mizerik E, Wu W, Dai H, Owen N, Smith J, Meng L, Eng C, Xia F, Bi W, Zhao X. P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders. Genetics In Medicine Open 2024, 2: 101586. DOI: 10.1016/j.gimo.2024.101586.Peer-Reviewed Original ResearchChromosomal disordersMolecular findings
2022
Female Infertility
Oktay K, Taylan E. Female Infertility. 2022, 1376-1381. DOI: 10.1093/med/9780198870197.003.0165.Peer-Reviewed Original ResearchFertility preservationOvarian insufficiencyOvarian follicle reservePreservation of fertilityReproductive-age womenEffective treatment optionOvarian endocrine functionAntineoplastic treatmentSurgical interventionFollicle reserveTreatment optionsAge womenFemale infertilityEndocrine functionPsychosocial healthChromosomal disordersReproductive technologiesWomenImproved qualityModern healthcareIrreversible lossInfertilityInsufficiency
2020
RAP80 and BRCA1 PARsylation protect chromosome integrity by preventing retention of BRCA1-B/C complexes in DNA repair foci
Vohhodina J, Toomire KJ, Petit SA, Micevic G, Kumari G, Botchkarev VV, Li Z, Livingston DM, Hu Y. RAP80 and BRCA1 PARsylation protect chromosome integrity by preventing retention of BRCA1-B/C complexes in DNA repair foci. Proceedings Of The National Academy Of Sciences Of The United States Of America 2020, 117: 2084-2091. PMID: 31932421, PMCID: PMC6995001, DOI: 10.1073/pnas.1908003117.Peer-Reviewed Original ResearchConceptsHomologous recombination-mediated repairNuclear fociRecombination-mediated repairDNA repair fociPoly ADP-ribosylationProtein RAP80Chromatin structureChromosome integrityBRCA1 complexGenome disordersRepair fociRAP80Intracellular developmentPresence of BRCA1C complexActivity promotesSimultaneous lossBRCA1Complex formationNormal interactionComplexesPARsylationDNARibosylationChromosomal disorders
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