2023
Identifying candidate genes underlying isolated congenital anosmia
Kamarck M, Trimmer C, Murphy N, Gregory K, Manoel D, Logan D, Saraiva L, Mainland J. Identifying candidate genes underlying isolated congenital anosmia. Clinical Genetics 2023, 105: 376-385. PMID: 38148624, PMCID: PMC10932857, DOI: 10.1111/cge.14470.Peer-Reviewed Original ResearchMeSH KeywordsCyclic Nucleotide-Gated Cation ChannelsHumansMutationOlfaction DisordersQuality of LifeSignal TransductionSmellConceptsIsolated congenital anosmiaWhole-exome sequencingCongenital anosmiaGene candidate listsLoss-of-function variantsSpectrum of genetic alterationsOlfactory transduction pathwayZinc ion bindingDeleterious variantsExome sequencingTransduction pathwaysGenetic alterationsOlfactory signalsNon-syndromicOlfactory functionAssociated with olfactionQuality of lifeGenesAnosmiaIon bindingEstimated 1VariantsOlfactionFamilyCNGA2
2020
More Than Smell—COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis
Parma V, Ohla K, Veldhuizen M, Niv M, Kelly C, Bakke A, Cooper K, Bouysset C, Pirastu N, Dibattista M, Kaur R, Liuzza M, Pepino M, Schöpf V, Pereda-Loth V, Olsson S, Gerkin R, DomĂnguez P, Albayay J, Farruggia M, Bhutani S, Fjaeldstad A, Kumar R, Menini A, Bensafi M, Sandell M, Konstantinidis I, Di Pizio A, Genovese F, Ă–ztĂĽrk L, Thomas-Danguin T, Frasnelli J, Boesveldt S, Saatci Ă–, Saraiva L, Lin C, Golebiowski J, Hwang L, Ozdener M, GuĂ rdia M, Laudamiel C, Ritchie M, HavlĂcek J, Pierron D, Roura E, Navarro M, Nolden A, Lim J, Whitcroft K, Colquitt L, Ferdenzi C, Brindha E, Altundag A, Macchi A, Nunez-Parra A, Patel Z, Fiorucci S, Philpott C, Smith B, Lundström J, Mucignat C, Parker J, van den Brink M, Schmuker M, Fischmeister F, Heinbockel T, Shields V, Faraji F, SantamarĂa E, Fredborg W, Morini G, Olofsson J, Jalessi M, Karni N, D’Errico A, Alizadeh R, Pellegrino R, Meyer P, Huart C, Chen B, Soler G, Alwashahi M, Welge-LĂĽssen A, Freiherr J, de Groot J, Klein H, Okamoto M, Singh P, Hsieh J, Reed D, Hummel T, Munger S, Hayes J, Abdulrahman O, Dalton P, Yan C, Voznessenskaya V, Chen J, Sell E, Walsh-Messinger J, Archer N, Koyama S, Deary V, Roberts S, Yanik H, Albayrak S, Nováková L, Croijmans I, Mazal P, Moein S, Margulis E, Mignot C, Mariño S, Georgiev D, Kaushik P, Malnic B, Wang H, Seyed-Allaei S, Yoluk N, Razzaghi-Asl S, Justice J, Restrepo D. More Than Smell—COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis. Chemical Senses 2020, 45: 609-622. PMID: 32564071, PMCID: PMC7337664, DOI: 10.1093/chemse/bjaa041.Peer-Reviewed Original ResearchConceptsChemosensory impairmentSmell lossAssociated with severe impairmentSelf-reported quantityNasal obstructionOlfactory abilityDifference scoresChemosensory modalitiesSevere impairmentPerceived nasal obstructionImpairmentClinical assessment groupClinical assessmentQuality of perceptionLaboratory testsInternational QuestionnaireReduction of smellParticipantsCOVID-19 diagnosisSmellObstructionCOVID-19Assessment Group
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