Association of migraine-like headaches with schimke immuno-osseous dysplasia

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dc.contributor.authorSloan, Emily A.
dc.contributor.authorElizondo, Leah I.
dc.contributor.authorHuang, Cheng
dc.contributor.authorAndré, Jean-Luc
dc.contributor.authorBogdanovic, Radovan
dc.contributor.authorCockfield, Sandra
dc.contributor.authorCordeiro, Isabel
dc.contributor.authorDeschenes, Georges
dc.contributor.authorFründ, Stefan
dc.contributor.authorKaitila, Ilkka
dc.contributor.authorLama, Giuliana
dc.contributor.authorLamfers, Petra
dc.contributor.authorLücke, Thomas
dc.contributor.authorMilford, David V.
dc.contributor.authorNajera, Lydia
dc.contributor.authorRodrigo, Francisco
dc.contributor.authorSaraiva, Jorge M.
dc.contributor.authorSchmidt, Beate
dc.contributor.authorSmith, Graham C.
dc.contributor.authorStajic, Nastasa
dc.contributor.authorStein, Anja
dc.contributor.authorTaha, Doris
dc.contributor.authorWand, Dorothea
dc.contributor.authorArmstrong, Dawna
dc.contributor.authorBoerkoel, Cornelius F.
dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.buuauthorDönmez, Osman
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/İmmünoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Nefroloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-8571-2581tr_TR
dc.contributor.researcheridAAH-1658-2021tr_TR
dc.contributor.scopusid34975059200tr_TR
dc.contributor.scopusid19033971800tr_TR
dc.date.accessioned2021-08-09T08:42:07Z
dc.date.available2021-08-09T08:42:07Z
dc.date.issued2005-07-01
dc.description.abstractSchimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal. dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SAL&RCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function.en_US
dc.identifier.citationKılıç, S. Ş. vd. (2005). "Association of migraine-like headaches with schimke immuno-osseous dysplasia". American Journal of Medical Genetics Part A, 135A(2), 206-210.en_US
dc.identifier.endpage210tr_TR
dc.identifier.issn1552-4825
dc.identifier.issue2tr_TR
dc.identifier.pubmed15884045tr_TR
dc.identifier.scopus2-s2.0-20044373274tr_TR
dc.identifier.startpage206tr_TR
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.30692
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30692
dc.identifier.urihttp://hdl.handle.net/11452/21370
dc.identifier.volume135Atr_TR
dc.identifier.wos000229488000019tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalAmerican Journal of Medical Genetics Part Atr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMigraineen_US
dc.subjectImmunodeficiencyen_US
dc.subjectSkeletal dysplasiaen_US
dc.subjectHeadacheen_US
dc.subjectRenal failureen_US
dc.subjectNephrotic syndromeen_US
dc.subjectImmunoosseous dysplasiaen_US
dc.subjectSpondyloepiphyseal dysplasiaen_US
dc.subjectDiseaseen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeGene producten_US
dc.subject.emtreeMinoxidilen_US
dc.subject.emtreeProtein SMARCAL1en_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeVasodilator agenten_US
dc.subject.emtreeBone dysplasiaen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChilden_US
dc.subject.emtreeDisease associationen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeHeadacheen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeKidney diseaseen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMigraineen_US
dc.subject.emtreeNeuroimmunologyen_US
dc.subject.emtreeSchimke immunoosseous dysplasiaen_US
dc.subject.emtreeT cell depletionen_US
dc.subject.wosGenetics & heredityen_US
dc.titleAssociation of migraine-like headaches with schimke immuno-osseous dysplasiaen_US
dc.typeArticle
dc.wos.quartileQ3tr_TR

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