Publication:
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.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentNefroloji Ana Bilim Dalı
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.contributor.departmentİmmünoloji Ana Bilim Dalı
dc.contributor.orcid0000-0001-8571-2581
dc.contributor.researcheridAAH-1658-2021
dc.contributor.scopusid34975059200
dc.contributor.scopusid19033971800
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.
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.
dc.identifier.endpage210
dc.identifier.issn1552-4825
dc.identifier.issue2
dc.identifier.pubmed15884045
dc.identifier.scopus2-s2.0-20044373274
dc.identifier.startpage206
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.volume135A
dc.identifier.wos000229488000019
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherWiley
dc.relation.collaborationYurt dışı
dc.relation.collaborationSanayi
dc.relation.journalAmerican Journal of Medical Genetics Part A
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectMigraine
dc.subjectImmunodeficiency
dc.subjectSkeletal dysplasia
dc.subjectHeadache
dc.subjectRenal failure
dc.subjectNephrotic syndrome
dc.subjectImmunoosseous dysplasia
dc.subjectSpondyloepiphyseal dysplasia
dc.subjectDisease
dc.subjectGenetics & heredity
dc.subject.emtreeGene product
dc.subject.emtreeMinoxidil
dc.subject.emtreeProtein SMARCAL1
dc.subject.emtreeUnclassified drug
dc.subject.emtreeVasodilator agent
dc.subject.emtreeBone dysplasia
dc.subject.emtreeCase report
dc.subject.emtreeChild
dc.subject.emtreeDisease association
dc.subject.emtreeGene mutation
dc.subject.emtreeHeadache
dc.subject.emtreeHuman
dc.subject.emtreeKidney disease
dc.subject.emtreeMale
dc.subject.emtreeMigraine
dc.subject.emtreeNeuroimmunology
dc.subject.emtreeSchimke immunoosseous dysplasia
dc.subject.emtreeT cell depletion
dc.subject.wosGenetics & heredity
dc.titleAssociation of migraine-like headaches with schimke immuno-osseous dysplasia
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/İmmünoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Nefroloji Ana Bilim Dalı
local.indexed.atScopus
local.indexed.atWOS

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