2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
Alkhunaizi E, Martin N, Jelin A, Rosner M, Bailey D, Steiner L, Lakhani S, Ji W, Katzman P, Forster K, Jarinova O, Shannon P, Chitayat D, Consortium C. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. American Journal Of Medical Genetics Part A 2022, 191: 760-769. PMID: 36495114, PMCID: PMC9928776, DOI: 10.1002/ajmg.a.63071.Peer-Reviewed Original ResearchConceptsArthrogryposis multiplex congenitaPathogenic variantsCompound heterozygous pathogenic variantsNext-generation gene sequencingHeterozygous pathogenic variantsSkeletal muscle abnormalitiesVariety of disordersFetal exposureClinical manifestationsPeripheral nervesSpinal cordLive birthsMultiplex congenitaHigh incidenceMuscle abnormalitiesRecurrence riskNeuromuscular junctionPhenotypic presentationSingle gene disordersTTN variantsConnective tissueRecessive variantsRecessive inheritanceObligate carriersMolecular diagnosis
2009
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2. American Journal Of Human Genetics 2009, 84: 44-51. PMID: 19118815, PMCID: PMC2668029, DOI: 10.1016/j.ajhg.2008.12.009.Peer-Reviewed Original ResearchConceptsRecurrent ANERecurrent casesAcute Necrotizing EncephalopathyMissense mutationsCommon viral infectionsSusceptibility allelesFamilial ANENecrotizing EncephalopathyHealthy childrenViral infectionBinding protein 2PatientsAdditional kindredsAutosomal dominant traitUnaffected controlsObligate carriersIdentical mutationsProtein 2Index familySusceptibility loci
1999
Lack of normal pattern of cerebral asymmetry in familial schizophrenic patients and their relatives — The Maudsley Family Study
Sharma T, Lancaster E, Sigmundsson T, Lewis S, Takei N, Gurling H, Barta P, Pearlson G, Murray R. Lack of normal pattern of cerebral asymmetry in familial schizophrenic patients and their relatives — The Maudsley Family Study. Schizophrenia Research 1999, 40: 111-120. PMID: 10593451, DOI: 10.1016/s0920-9964(99)00143-7.Peer-Reviewed Original ResearchConceptsSchizophrenic patientsOccipitoparietal regionsControl subjectsNormal patternCortical regionsLack of asymmetryFamilial schizophrenic patientsNormal cerebral asymmetryHealthy control subjectsFirst-degree relativesObligate carriersCerebral asymmetryRegional brain volumesUnrelated control subjectsDegree relativesRight sensorimotorNormal brain asymmetryBrain volumeMaudsley Family StudyPatientsOccipital asymmetryUnaffected relativesSchizophreniaBrain asymmetryNormal asymmetry
1998
Brain changes in schizophrenia
Sharma T, Lancaster E, Lee D, Lewis S, Sigmundsson T, Takei N, Gurling H, Barta P, Pearlson G, Murray R. Brain changes in schizophrenia. The British Journal Of Psychiatry 1998, 173: 132-138. PMID: 9850225, DOI: 10.1192/bjp.173.2.132.Peer-Reviewed Original ResearchConceptsLarger lateral ventriclesControl subjectsUnrelated control subjectsLateral ventricleSmaller whole brainLateral ventricular enlargementStructural brain abnormalitiesNormal control subjectsObligate carriersGenetic liabilityVentricular enlargementSample of peopleBrain abnormalitiesBrain changesWhole brainCerebellar volumeBrain structuresMagnetic resonance imagesSchizophreniaVentricleUnaffected siblingsReconstructed magnetic resonance imagesResonance imagesAbnormalitiesVolumetric measurements
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