2024
Ring Chromosome 12
Taylor H, Wen J. Ring Chromosome 12. 2024, 191-199. DOI: 10.1007/978-3-031-47530-6_16.Peer-Reviewed Original Research
2020
Cerebral Venous Sinus Thrombosis in the COVID-19 Pandemic.
Medicherla CB, Pauley RA, de Havenon A, Yaghi S, Ishida K, Torres JL. Cerebral Venous Sinus Thrombosis in the COVID-19 Pandemic. Journal Of Neuro-Ophthalmology 2020, 40: 457-462. PMID: 33186264, DOI: 10.1097/wno.0000000000001122.Peer-Reviewed Original ResearchConceptsCerebral venous sinus thrombosisVenous sinus thrombosisSinus thrombosisThromboembolic eventsRisk of CVSTNeuro-ophthalmologic complicationsSignificant visual deficitsCoronavirus disease 2019COVID-19COVID-19 pandemicNeurologic complicationsClinical presentationMultiple etiologiesDisease presentationVisual deficitsDisease 2019Disease pathophysiologyNovel COVID-19 pandemicComplicationsThrombosisVariable phenotypeRecent studiesPresentationThromboembolismPandemic
1999
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn D, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming J, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel B, Zackai E. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genetic Counseling 1999, 10: 11-24. PMID: 10191425.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentAdultChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 22Cohort StudiesDiagnosis, DifferentialDiGeorge SyndromeFaciesFemaleGenetic CounselingHeart Defects, CongenitalHumansInfantInfant, NewbornMalePhenotypePhiladelphiaVelopharyngeal Insufficiency
1997
The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients. Genetic Testing And Molecular Biomarkers 1997, 1: 99-108. PMID: 10464633, DOI: 10.1089/gte.1997.1.99.Peer-Reviewed Original ResearchConceptsCayler cardiofacial syndromeCohort of patientsMajority of patientsConotruncal cardiac anomaliesConotruncal anomaly face syndromeSubmicroscopic deletionCardiac anomaliesDiagnostic workupCardiofacial syndromeOpitz G/BBB syndromePatientsSyndromeDiGeorge syndromeFace syndromeVelocardiofacial syndromeVariable phenotypeBBB syndromeChromosome 22q11.2Outcome of resultsDeletionCohortSubspecialistsWorkupClinicians
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