2021
Contraception and Reproductive Planning for Women With Cardiovascular Disease JACC Focus Seminar 5/5
Lindley K, Merz C, Davis M, Madden T, Park K, Bello N, Group A. Contraception and Reproductive Planning for Women With Cardiovascular Disease JACC Focus Seminar 5/5. Journal Of The American College Of Cardiology 2021, 77: 1823-1834. PMID: 33832608, PMCID: PMC8041063, DOI: 10.1016/j.jacc.2021.02.025.Peer-Reviewed Original ResearchConceptsCardiovascular diseaseCardiovascular mortality riskReproductive-age womenHigh-risk groupEvidence-based recommendationsContraceptive safetyContraceptive optionsUnplanned pregnancyPregnancy terminationAccurate counselingMortality riskHigh riskCardiovascular teamReproductive planningWomenPregnancyDiseaseRiskPatientsCardiovascularContraception
2019
Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report
Jiang J, Huang J, Gu J, Cai X, Zhao H, Lu H. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report. BMC Medical Genomics 2019, 20: 204. PMID: 31888525, PMCID: PMC6938020, DOI: 10.1186/s12881-019-0935-3.Peer-Reviewed Original ResearchConceptsSMA casesHeterozygous mutationsInternational SMA ConsortiumBackgroundSpinal muscular atrophyDifferent clinical typesRare neuromuscular disorderCopies of SMN2Compound heterozygous mutationsWhole-exome sequencingSeverity of SMAGenomic analysisFemale patientsMale patientsClinical typesCase reportAccurate counselingRare caseMouse modelDiagnostic criteriaMuscular functionPatientsGrowth differentiation factor 8Neuromuscular disordersSMA patientsMuscular atrophy
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