{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:57:02Z","timestamp":1790711822933,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2010,1,6]],"date-time":"2010-01-06T00:00:00Z","timestamp":1262736000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2010,7]]},"DOI":"10.1007\/s00431-009-1126-6","type":"journal-article","created":{"date-parts":[[2010,1,5]],"date-time":"2010-01-05T19:24:22Z","timestamp":1262719462000},"page":"839-844","source":"Crossref","is-referenced-by-count":31,"title":["Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism"],"prefix":"10.1007","volume":"169","author":[{"given":"Hirosuke","family":"Inoue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Kusuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takako","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Ochiai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadamune","family":"Kinjo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Muneuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Takahata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Hara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,1,6]]},"reference":[{"issue":"3","key":"1126_CR1","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.jpeds.2005.10.044","volume":"148","author":"M Aramaki","year":"2006","unstructured":"Aramaki M, Udaka T, Kosaki R et al (2006) Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 148(3):410\u2013414","journal-title":"J Pediatr"},{"issue":"4","key":"1126_CR2","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1089\/gte.2006.10.244","volume":"10","author":"M Aramaki","year":"2006","unstructured":"Aramaki M, Udaka T, Torii C et al (2006) Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography. Genet Test 10(4):244\u2013251","journal-title":"Genet Test"},{"issue":"3","key":"1126_CR3","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","volume":"37","author":"KD Blake","year":"1998","unstructured":"Blake KD, Davenport SL, Hall BD et al (1998) CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 37(3):159\u2013173","journal-title":"Clin Pediatr (Phila)"},{"issue":"1","key":"1126_CR4","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/ajmg.a.20526","volume":"123A","author":"KE Brock","year":"2003","unstructured":"Brock KE, Mathiason MA, Rooney BL et al (2003) Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies. Am J Med Genet A 123A(1):111\u2013121","journal-title":"Am J Med Genet A"},{"issue":"3","key":"1126_CR5","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.clim.2008.02.008","volume":"127","author":"JA Brown","year":"2008","unstructured":"Brown JA, Boussiotis VA (2008) Umbilical cord blood transplantation: basic biology and clinical challenges to immune reconstitution. Clin Immunol 127(3):286\u2013297","journal-title":"Clin Immunol"},{"issue":"3","key":"1126_CR6","first-page":"197","volume":"83","author":"G D\u2019Arena","year":"1998","unstructured":"D\u2019Arena G, Musto P, Cascavilla N et al (1998) Flow cytometric characterization of human umbilical cord blood lymphocytes: immunophenotypic features. Haematologica 83(3):197\u2013203","journal-title":"Haematologica"},{"issue":"5","key":"1126_CR7","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/j.1399-0004.1998.tb02755.x","volume":"53","author":"K Devriendt","year":"1998","unstructured":"Devriendt K, Swillen A, Fryns JP (1998) Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet 53(5):408\u2013410","journal-title":"Clin Genet"},{"issue":"1","key":"1126_CR8","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/j.1365-2249.2008.03681.x","volume":"153","author":"AR Gennery","year":"2008","unstructured":"Gennery AR, Slatter MA, Rice J et al (2008) Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol 153(1):75\u201380","journal-title":"Clin Exp Immunol"},{"issue":"6792","key":"1126_CR9","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/35018111","volume":"406","author":"T G\u00fcnther","year":"2000","unstructured":"G\u00fcnther T, Chen ZF, Kim J et al (2000) Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 406(6792):199\u2013203","journal-title":"Nature"},{"issue":"5","key":"1126_CR10","doi-asserted-by":"crossref","first-page":"e871","DOI":"10.1542\/peds.2008-3400","volume":"123","author":"S Jyonouchi","year":"2009","unstructured":"Jyonouchi S, McDonald-McGinn DM, Bale S et al (2009) CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies\/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 123(5):e871\u2013e877","journal-title":"Pediatrics"},{"issue":"13","key":"1126_CR11","doi-asserted-by":"crossref","first-page":"4543","DOI":"10.1182\/blood-2007-05-092130","volume":"110","author":"KV Komanduri","year":"2007","unstructured":"Komanduri KV, St John LS, de Lima M et al (2007) Delayed immune reconstitution after cord blood transplantation is characterized by impaired thymopoiesis and late memory T-cell skewing. Blood 110(13):4543\u20134551","journal-title":"Blood"},{"issue":"2","key":"1126_CR12","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","volume":"78","author":"SR Lalani","year":"2006","unstructured":"Lalani SR, Safiullah AM, Fernbach SD et al (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype\u2013phenotype correlation. Am J Hum Genet 78(2):303\u2013314","journal-title":"Am J Hum Genet"},{"issue":"4","key":"1126_CR13","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/j.jaci.2007.08.048","volume":"120","author":"MH Land","year":"2007","unstructured":"Land MH, Garcia-Lloret MI, Borzy MS et al (2007) Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol 120(4):908\u2013915","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"1126_CR14","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1016\/j.jaci.2007.12.1181","volume":"121","author":"ML Markert","year":"2008","unstructured":"Markert ML (2008) Treatment of infants with complete DiGeorge anomaly. J Allergy Clin Immunol 121(4):1063\u20131064","journal-title":"J Allergy Clin Immunol"},{"issue":"10","key":"1126_CR15","doi-asserted-by":"crossref","first-page":"4539","DOI":"10.1182\/blood-2006-10-048652","volume":"109","author":"ML Markert","year":"2007","unstructured":"Markert ML, Devlin BH, Alexieff MJ et al (2007) Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 109(10):4539\u20134547","journal-title":"Blood"},{"issue":"1","key":"1126_CR16","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0022-3476(98)70478-0","volume":"132","author":"ML Markert","year":"1998","unstructured":"Markert ML, Hummell DS, Rosenblatt HM et al (1998) Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 132(1):15\u201321","journal-title":"J Pediatr"},{"issue":"3","key":"1126_CR17","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1136\/jmg.26.3.202","volume":"26","author":"P Meinecke","year":"1989","unstructured":"Meinecke P, Polke A, Schmiegelow P (1989) Limb anomalies in the CHARGE association. J Med Genet 26(3):202\u2013203","journal-title":"J Med Genet"},{"issue":"12","key":"1126_CR18","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1007\/s00431-004-1524-8","volume":"163","author":"Y Ohtsuka","year":"2004","unstructured":"Ohtsuka Y, Shimizu T, Nishizawa K et al (2004) Successful engraftment and decrease of cytomegalovirus load after cord blood stem cell transplantation in a patient with DiGeorge syndrome. Eur J Pediatr 163(12):747\u2013748","journal-title":"Eur J Pediatr"},{"issue":"2","key":"1126_CR19","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<179::AID-AJMG11>3.0.CO;2-R","volume":"68","author":"C Prasad","year":"1997","unstructured":"Prasad C, Quackenbush EJ, Whiteman D et al (1997) Limb anomalies in DiGeorge and CHARGE syndromes. Am J Med Genet 68(2):179\u2013181","journal-title":"Am J Med Genet"},{"issue":"10","key":"1126_CR20","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34(10):798\u2013804","journal-title":"J Med Genet"},{"issue":"4","key":"1126_CR21","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.jaci.2007.08.013","volume":"120","author":"M Sanka","year":"2007","unstructured":"Sanka M, Tangsinmankong N, Loscalzo M et al (2007) Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol 120(4):952\u2013954","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"1126_CR22","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2005.036160","volume":"43","author":"D Sanlaville","year":"2006","unstructured":"Sanlaville D, Etchevers HC, Gonzales M et al (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43(3):211\u2013217","journal-title":"J Med Genet"},{"issue":"6","key":"1126_CR23","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1097\/00130832-200412000-00006","volume":"4","author":"KE Sullivan","year":"2004","unstructured":"Sullivan KE (2004) The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol 4(6):505\u2013512","journal-title":"Curr Opin Allergy Clin Immunol"},{"issue":"22","key":"1126_CR24","doi-asserted-by":"crossref","first-page":"2712","DOI":"10.1002\/ajmg.a.32008","volume":"143A","author":"I Laar Van de","year":"2007","unstructured":"Van de Laar I, Dooijes D, Hoefsloot L et al (2007) Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet A 143A(22):2712\u20132715","journal-title":"Am J Med Genet A"},{"issue":"9","key":"1126_CR25","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","volume":"36","author":"LE Vissers","year":"2004","unstructured":"Vissers LE, van Ravenswaaij CM, Admiraal R et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9):955\u2013957","journal-title":"Nat Genet"},{"issue":"16","key":"1126_CR26","doi-asserted-by":"crossref","first-page":"6115","DOI":"10.1073\/pnas.0709713105","volume":"105","author":"N Vrisekoop","year":"2008","unstructured":"Vrisekoop N, den Braber I, de Boer AB et al (2008) Sparse production but preferential incorporation of recently produced naive T cells in the human peripheral pool. Proc Natl Acad Sci USA 105(16):6115\u20136120","journal-title":"Proc Natl Acad Sci USA"},{"issue":"3","key":"1126_CR27","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1002\/ajmg.a.30561","volume":"133A","author":"MS Williams","year":"2005","unstructured":"Williams MS (2005) Speculations on the pathogenesis of CHARGE syndrome. Am J Med Genet A 133A(3):318\u2013325","journal-title":"Am J Med Genet A"},{"issue":"1","key":"1126_CR28","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1399-0004.2008.01014.x","volume":"74","author":"J Wincent","year":"2008","unstructured":"Wincent J, Holmberg E, Str\u00f6mland K et al (2008) CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin Genet 74(1):31\u201338","journal-title":"Clin Genet"},{"issue":"21","key":"1126_CR29","doi-asserted-by":"crossref","first-page":"11472","DOI":"10.1073\/pnas.94.21.11472","volume":"94","author":"T Woodage","year":"1997","unstructured":"Woodage T, Basrai MA, Baxevanis AD et al (1997) Characterization of the CHD family of proteins. Proc Natl Acad Sci USA 94(21):11472\u201311477","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5","key":"1126_CR30","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ejmg.2007.05.002","volume":"50","author":"K Writzl","year":"2007","unstructured":"Writzl K, Cale CM, Pierce CM et al (2007) Immunological abnormalities in CHARGE syndrome. Eur J Med Genet 50(5):338\u2013345","journal-title":"Eur J Med Genet"},{"issue":"9393","key":"1126_CR31","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","volume":"362","author":"H Yagi","year":"2003","unstructured":"Yagi H, Furutani Y, Hamada H et al (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet 362(9393):1366\u20131373","journal-title":"Lancet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-009-1126-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-009-1126-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-009-1126-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T22:22:04Z","timestamp":1559082124000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-009-1126-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,6]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2010,7]]}},"alternative-id":["1126"],"URL":"https:\/\/doi.org\/10.1007\/s00431-009-1126-6","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,6]]}}}