2023
Human genetics and molecular genomics of Chiari malformation type 1
Mekbib K, Muñoz W, Allington G, McGee S, Mehta N, Shofi J, Fortes C, Le H, Nelson-Williams C, Nanda P, Dennis E, Kundishora A, Khanna A, Smith H, Ocken J, Greenberg A, Wu R, Moreno-De-Luca A, DeSpenza T, Zhao S, Marlier A, Jin S, Alper S, Butler W, Kahle K. Human genetics and molecular genomics of Chiari malformation type 1. Trends In Molecular Medicine 2023, 29: 1059-1075. PMID: 37802664, DOI: 10.1016/j.molmed.2023.08.013.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingChiari malformation type 1Recent whole-exome sequencingDevelopmental signalingTranscription regulationCandidate genesGenetic studiesMolecular genomicsHuman geneticsSignificant genetic contributionGenetic contributionType 1De novo germlineExome sequencingStructural brain disordersTreatment failureSurgical approachSpinal canalCerebellar tonsilsCraniocervical junctionCaudal displacementBrain disordersNeurophysiological endophenotypesGenomicsGermline
2021
Scoliosis with Chiari I malformation without associated syringomyelia
O’Neill N, Miller PE, Hresko MT, Emans JB, Karlin LI, Hedequist DJ, Snyder BD, Smith ER, Proctor MR, Glotzbecker MP. Scoliosis with Chiari I malformation without associated syringomyelia. Spine Deformity 2021, 9: 1105-1113. PMID: 33471302, DOI: 10.1007/s43390-021-00286-7.Peer-Reviewed Original ResearchConceptsPosterior fossa decompressionChiari I malformationScoliosis progressionAverage initial curveNon-idiopathic scoliosisNon-surgical populationMethodsA retrospective reviewResultsThirty-two patientsPresence of symptomsPurposeMany patientsAssociated syringomyeliaSurgical treatmentRetrospective reviewFossa decompressionMean ageRadiographic characteristicsCerebellar tonsilsCurve magnitudeCurve progressionIdiopathic scoliosisPatientsAverage progressionScoliosisForamen magnumSymptoms
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply