{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T04:59:00Z","timestamp":1768712340402,"version":"3.49.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1016\/j.ejmg.2017.12.012","type":"journal-article","created":{"date-parts":[[2017,12,26]],"date-time":"2017-12-26T13:08:36Z","timestamp":1514293716000},"page":"284-287","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms"],"prefix":"10.1016","volume":"61","author":[{"given":"M.H.D.","family":"Schoenaker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.J.H.","family":"Van Os","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Van der Flier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Van Deuren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.M.","family":"Seyger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.R.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.M.R.","family":"Weemaes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.A.P.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2017.12.012_bib1","first-page":"615368","article-title":"Bladder wall telangiectasia in a patient with ataxia-telangiectasia and how to manage?","volume":"2015","author":"Aygun","year":"2015","journal-title":"Case Rep Pediatr"},{"issue":"11","key":"10.1016\/j.ejmg.2017.12.012_bib2","first-page":"695","article-title":"Ataxie telangiectasia et telangiectasies vesicales","volume":"92","author":"Ben Abdallah Chabchoub","year":"2014","journal-title":"Tunis. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib3","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.21.4.526","article-title":"Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection","volume":"21","author":"Boder","year":"1958","journal-title":"Pediatrics"},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib4","first-page":"659","article-title":"Acrolein, the causative factor of urotoxic side-effects of cyclophosphamide, ifosfamide, trofosfamide and sufosfamide","volume":"29","author":"Brock","year":"1979","journal-title":"Arzneimittelforschung"},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib5","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.jpurol.2009.02.198","article-title":"Haemorrhagic cystitis and polyomavirus JC infection in Ataxia Telangiectasia","volume":"5","author":"Christmann","year":"2009","journal-title":"J. Pediatr. Urol."},{"issue":"5","key":"10.1016\/j.ejmg.2017.12.012_bib6","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1651-2227.2008.00736.x","article-title":"Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation","volume":"97","author":"Cohen","year":"2008","journal-title":"Acta Paediatr."},{"issue":"9","key":"10.1016\/j.ejmg.2017.12.012_bib7","doi-asserted-by":"crossref","first-page":"4604","DOI":"10.1128\/MCB.16.9.4604","article-title":"Activation of vascular endothelial growth factor gene transcription by hypoxia-inducible factor 1","volume":"16","author":"Forsythe","year":"1996","journal-title":"Mol. Cell Biol."},{"issue":"6","key":"10.1016\/j.ejmg.2017.12.012_bib8","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.jaad.2012.12.950","article-title":"Dermatologic manifestations of ataxia-telangiectasia syndrome","volume":"68","author":"Greenberger","year":"2013","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ejmg.2017.12.012_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.dnarep.2015.12.009","article-title":"ATM kinase: much more than a DNA damage responsive protein","volume":"39","author":"Guleria","year":"2016","journal-title":"DNA Repair (Amst)"},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib10","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1124\/pr.56.4.3","article-title":"Vascular endothelial growth factor and angiogenesis","volume":"56","author":"Hoeben","year":"2004","journal-title":"Pharmacol. Rev."},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib11","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1046\/j.1440-1827.2001.01199.x","article-title":"Ataxia Telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review","volume":"51","author":"Kamiya","year":"2001","journal-title":"Pathol. Int."},{"issue":"3","key":"10.1016\/j.ejmg.2017.12.012_bib12","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1002\/pbc.22072","article-title":"Hemorrhagic cystitis in a child with Hodgkin lymphoma and ataxia-telangiectasia after cyclophosphamide","volume":"53","author":"Kaymaz","year":"2009","journal-title":"Pediatr. Blood Canc."},{"issue":"9","key":"10.1016\/j.ejmg.2017.12.012_bib13","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1046\/j.1462-5822.2001.00144.x","article-title":"Evidence of a leading role for VEGF in Bartonella henselae-induced endothelial cell proliferations","volume":"3","author":"Kempf","year":"2001","journal-title":"Cell Microbiol."},{"issue":"8","key":"10.1016\/j.ejmg.2017.12.012_bib14","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1161\/01.CIR.0000155608.07691.B7","article-title":"Activation of hypoxia-inducible factor-1 in bacillary angiomatosis: evidence for a role of hypoxia-inducible factor-1 in bacterial infections","volume":"111","author":"Kempf","year":"2005","journal-title":"Circulation"},{"issue":"5","key":"10.1016\/j.ejmg.2017.12.012_bib15","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1182\/blood-2013-09-512749","article-title":"Oxidative stress in angiogenesis and vascular disease","volume":"123","author":"Kim","year":"2014","journal-title":"Blood"},{"issue":"12","key":"10.1016\/j.ejmg.2017.12.012_bib16","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1177\/1947601911423654","article-title":"Hypoxia-induced angiogenesis: good and evil","volume":"2","author":"Krock","year":"2011","journal-title":"Genes Canc."},{"issue":"7","key":"10.1016\/j.ejmg.2017.12.012_bib17","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1111\/pai.12766","article-title":"Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy","volume":"28","author":"Kruger","year":"2017","journal-title":"Pediatr. Allergy Immunol."},{"key":"10.1016\/j.ejmg.2017.12.012_bib18","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1159\/000106149","article-title":"Sur un syndrome progressif comprenant des t\u00e9langiectasies capillaires cutan\u00e9es et conjonctivales sym\u00e9triques, \u00e0 disposition naevo\u00efde et de troubles c\u00e9r\u00e9belleux","volume":"4","author":"Louis-Bar","year":"1941","journal-title":"Confin. neurol. (Basel)"},{"issue":"8","key":"10.1016\/j.ejmg.2017.12.012_bib19","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1038\/sj.embor.7400210","article-title":"ATM and Ataxia Telangiectasia","volume":"5","author":"McKinnon","year":"2004","journal-title":"EMBO Rep."},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.012_bib20","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.jaci.2011.03.052","article-title":"Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype","volume":"128","author":"Micol","year":"2011","journal-title":"J. Allergy Clin. Immunol."},{"issue":"24","key":"10.1016\/j.ejmg.2017.12.012_bib21","doi-asserted-by":"crossref","first-page":"4311","DOI":"10.4161\/cc.10.24.18663","article-title":"Oxygen sensing is impaired in ATM-defective cells","volume":"10","author":"Mongiardi","year":"2011","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ejmg.2017.12.012_bib22","doi-asserted-by":"crossref","first-page":"631","DOI":"10.12659\/AJCR.893995","article-title":"Ataxia-telangiectasia presenting as cerebral palsy and recurrent wheezing: a case report","volume":"16","author":"Navratil","year":"2015","journal-title":"Am. J. Case. Rep."},{"issue":"14","key":"10.1016\/j.ejmg.2017.12.012_bib23","doi-asserted-by":"crossref","first-page":"2814","DOI":"10.4161\/cc.9.14.12253","article-title":"Loss of ATM positively regulates the expression of hypoxia inducible factor 1 (HIF-1) through oxidative stress: role in the physiopathology of the disease","volume":"9","author":"Ousset","year":"2010","journal-title":"Cell Cycle"},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib24","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/bjc.2011.266","article-title":"Lymphoid tumours and breast cancer in Ataxia Telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours","volume":"105","author":"Reiman","year":"2011","journal-title":"Br. J. Canc."},{"issue":"1","key":"10.1016\/j.ejmg.2017.12.012_bib25","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia Telangiectasia: a review","volume":"11","author":"Rothblum-Oviatt","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.012_bib26","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s12311-014-0557-4","article-title":"Radiological imaging in Ataxia Telangiectasia: a review","volume":"13","author":"Sahama","year":"2014","journal-title":"Cerebellum"},{"issue":"6","key":"10.1016\/j.ejmg.2017.12.012_bib27","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/(SICI)1096-911X(199812)31:6<491::AID-MPO5>3.0.CO;2-B","article-title":"Treatment of lymphoid malignancies in patients with ataxia-telangiectasia","volume":"31","author":"Sandoval","year":"1998","journal-title":"Med. Pediatr. Oncol."},{"issue":"5218","key":"10.1016\/j.ejmg.2017.12.012_bib28","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1126\/science.7792600","article-title":"A single Ataxia Telangiectasia gene with a product similar to PI-3 kinase","volume":"268","author":"Savitsky","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2017.12.012_bib29","unstructured":"Schieving JH, S M., Weemaes CM, Van Deuren M, Van der Flier M, Seyger MM, Willemsen MAAP, Telangiectasias: small lesions referring to serious disorders. Submitted."},{"key":"10.1016\/j.ejmg.2017.12.012_bib30","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.dnarep.2013.11.002","article-title":"Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia","volume":"13","author":"Sharma","year":"2014","journal-title":"DNA Repair (Amst)"},{"issue":"6","key":"10.1016\/j.ejmg.2017.12.012_bib31","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1007\/s00467-007-0710-0","article-title":"Vesical varices and telangiectasias in a patient with Ataxia Telangiectasia","volume":"23","author":"Suzuki","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2017.12.012_bib32","first-page":"541","article-title":"Contribution a l'independance de l'athetose double idiopathique et congenitale","author":"Syllaba","year":"1926","journal-title":"Rev. Neurol. (Paris)"},{"issue":"6","key":"10.1016\/j.ejmg.2017.12.012_bib33","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1182\/blood-2011-08-373639","article-title":"Mitochondrial dysfunction in ataxia-telangiectasia","volume":"119","author":"Valentin-Vega","year":"2012","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.ejmg.2017.12.012_bib34","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1111\/dmcn.13424","article-title":"Ataxia-telangiectasia: immunodeficiency and survival","volume":"59","author":"van Os","year":"2017","journal-title":"Dev. Med. Child. Neurol."},{"issue":"6","key":"10.1016\/j.ejmg.2017.12.012_bib35","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/WNL.0b013e3181af33bd","article-title":"Clinical spectrum of ataxia-telangiectasia in adulthood","volume":"73","author":"Verhagen","year":"2009","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejmg.2017.12.012_bib36","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/humu.22016","article-title":"Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study","volume":"33","author":"Verhagen","year":"2012","journal-title":"Hum. Mutat."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217304901?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217304901?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:12Z","timestamp":1761709512000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217304901"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S1769721217304901"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.012","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}