{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T22:08:07Z","timestamp":1785708487912,"version":"3.56.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2016,1,19]],"date-time":"2016-01-19T00:00:00Z","timestamp":1453161600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["11C4914N"],"award-info":[{"award-number":["11C4914N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1007\/s00405-016-3896-6","type":"journal-article","created":{"date-parts":[[2016,1,19]],"date-time":"2016-01-19T06:12:14Z","timestamp":1453183934000},"page":"3025-3034","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients"],"prefix":"10.1007","volume":"273","author":[{"given":"Frederic R.","family":"Acke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Freya K.","family":"Swinnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg J.","family":"Dhooge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els M. R.","family":"De Leenheer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,1,19]]},"reference":[{"key":"3896_CR1","unstructured":"Robin NH, Moran RT, Warman M, Ala-Kokko L (1993, updated 2014) Stickler syndrome. In: Pagon RA et al (ed) GeneReviews\u2122 [Internet]. University of Washington, Seattle, WA"},{"issue":"11","key":"3896_CR2","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1038\/eye.2011.201","volume":"25","author":"MP Snead","year":"2011","unstructured":"Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ (2011) Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond) 25(11):1389\u20131400","journal-title":"Eye (Lond)"},{"issue":"3","key":"3896_CR3","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ajmg.a.30955","volume":"138A","author":"PS Rose","year":"2005","unstructured":"Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA (2005) Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A 138A(3):199\u2013207","journal-title":"Am J Med Genet A"},{"issue":"9","key":"3896_CR4","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1001\/archotol.127.9.1061","volume":"127","author":"YM Szymko-Bennett","year":"2001","unstructured":"Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF, McCullagh L, Levy HP, Liberfarb RM et al (2001) Auditory dysfunction in Stickler syndrome. Arch Otolaryngol Head Neck Surg 127(9):1061\u20131068","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"3896_CR5","first-page":"216","volume":"61","author":"RJ Admiraal","year":"2002","unstructured":"Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL (2002) Hearing impairment in Stickler syndrome. Adv Otorhinolaryngol 61:216\u2013223","journal-title":"Adv Otorhinolaryngol"},{"issue":"3 Pt 1","key":"3896_CR6","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1097\/00005537-200003000-00025","volume":"110","author":"RJ Admiraal","year":"2000","unstructured":"Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW (2000) Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. Laryngoscope 110(3 Pt 1):457\u2013461","journal-title":"Laryngoscope"},{"key":"3896_CR7","volume-title":"Handbook of otoacoustic emissions","author":"JWI Hall","year":"2000","unstructured":"Hall JWI (2000) Handbook of otoacoustic emissions. Cengage Learning, Boston"},{"issue":"3","key":"3896_CR8","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.clinph.2009.11.003","volume":"121","author":"H Keppler","year":"2010","unstructured":"Keppler H, Dhooge I, Corthals P, Maes L, D\u2019Haenens W, Bockstael A, Philips B, Swinnen F, Vinck B (2010) The effects of aging on evoked otoacoustic emissions and efferent suppression of transient evoked otoacoustic emissions. Clin Neurophysiol 121(3):359\u2013365","journal-title":"Clin Neurophysiol"},{"issue":"1","key":"3896_CR9","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1080\/16513860310003049","volume":"1","author":"PLM Huygen","year":"2003","unstructured":"Huygen PLM, Pennings RJE, Cremers CWRJ (2003) Characterizing and distinguishing progressive phenotypes in nonsyndromic autosomal dominant hearing impairment. Audiol Med 1(1):37\u201346","journal-title":"Audiol Med"},{"key":"3896_CR10","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/1750-1172-7-84","volume":"7","author":"FR Acke","year":"2012","unstructured":"Acke FR, Dhooge IJ, Malfait F, De Leenheer EM (2012) Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis 7:84","journal-title":"Orphanet J Rare Dis"},{"issue":"1\u20132","key":"3896_CR11","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0378-5955(01)00377-X","volume":"163","author":"GA Gates","year":"2002","unstructured":"Gates GA, Mills D, Nam BH, D\u2019Agostino R, Rubel EW (2002) Effects of age on the distortion product otoacoustic emission growth functions. Hear Res 163(1\u20132):53\u201360","journal-title":"Hear Res"},{"issue":"1\u20132","key":"3896_CR12","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/0378-5955(94)90127-9","volume":"79","author":"U Khetarpal","year":"1994","unstructured":"Khetarpal U, Robertson NG, Yoo TJ, Morton CC (1994) Expression and localization of COL2A1 mRNA and type II collagen in human fetal cochlea. Hear Res 79(1\u20132):59\u201373","journal-title":"Hear Res"},{"issue":"12","key":"3896_CR13","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1111\/j.1468-1331.2011.03470.x","volume":"18","author":"V Pisani","year":"2011","unstructured":"Pisani V, Tirabasso A, Mazzone S, Terracciano C, Botta A, Novelli G, Bernardi G, Massa R, Di Girolamo S (2011) Early subclinical cochlear dysfunction in myotonic dystrophy type 1. Eur J Neurol 18(12):1412\u20131416","journal-title":"Eur J Neurol"},{"issue":"4","key":"3896_CR14","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1159\/000189265","volume":"14","author":"JM Leijendeckers","year":"2009","unstructured":"Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW (2009) Audiometric characteristics of USH2a patients. Audiol Neurootol 14(4):223\u2013231","journal-title":"Audiol Neurootol"},{"issue":"4","key":"3896_CR15","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1086\/302585","volume":"65","author":"S Annunen","year":"1999","unstructured":"Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF et al (1999) Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall\/Stickler phenotypes. Am J Hum Genet 65(4):974\u2013983","journal-title":"Am J Hum Genet"},{"issue":"3","key":"3896_CR16","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/ajmg.a.31586","volume":"143","author":"M Majava","year":"2007","unstructured":"Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D et al (2007) A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A 143(3):258\u2013264","journal-title":"Am J Med Genet A"},{"issue":"Suppl 1","key":"3896_CR17","doi-asserted-by":"crossref","first-page":"111S","DOI":"10.1177\/0003489415575044","volume":"124","author":"YI Iwasa","year":"2015","unstructured":"Iwasa YI, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami SI (2015) Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients. Ann Otol Rhinol Laryngol 124(Suppl 1):111S\u2013117S","journal-title":"Ann Otol Rhinol Laryngol"},{"issue":"1\u20132","key":"3896_CR18","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.heares.2012.07.001","volume":"291","author":"E Beelen van","year":"2012","unstructured":"van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stobe L, Pennings RJ, Leuwer R, Snik AF et al (2012) Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). Hear Res 291(1\u20132):15\u201323","journal-title":"Hear Res"},{"issue":"11","key":"3896_CR19","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1177\/000348940411301112","volume":"113","author":"EM Leenheer De","year":"2004","unstructured":"De Leenheer EM, Bosman AJ, Kunst HP, Huygen PL, Cremers CW (2004) Audiological characteristics of some affected members of a Dutch DFNA13\/COL11A2 family. Ann Otol Rhinol Laryngol 113(11):922\u2013929","journal-title":"Ann Otol Rhinol Laryngol"},{"issue":"3","key":"3896_CR20","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1080\/00016480410016162","volume":"124","author":"KB Shpargel","year":"2004","unstructured":"Shpargel KB, Makishima T, Griffith AJ (2004) Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype. Acta Otolaryngol 124(3):242\u2013248","journal-title":"Acta Otolaryngol"},{"issue":"11","key":"3896_CR21","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1136\/jmedgenet-2012-101499","volume":"50","author":"AJ Richards","year":"2013","unstructured":"Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP (2013) Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J Med Genet 50(11):765\u2013771","journal-title":"J Med Genet"},{"issue":"12","key":"3896_CR22","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1016\/j.ijporl.2004.07.015","volume":"68","author":"LW Baijens","year":"2004","unstructured":"Baijens LW, De Leenheer EM, Weekamp HH, Cruysberg JR, Mortier GR, Cremers CW (2004) Stickler syndrome type I and Stapes ankylosis. Int J Pediatr Otorhinolaryngol 68(12):1573\u20131580","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"9","key":"3896_CR23","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1001\/archotol.131.9.777","volume":"131","author":"B Beer de","year":"2005","unstructured":"de Beer B, Snik A, Schilder AG, Graamans K, Zielhuis GA (2005) The effect of otitis media in childhood on the development of middle ear admittance on reaching adulthood. Arch Otolaryngol Head Neck Surg 131(9):777\u2013781","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"8","key":"3896_CR24","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/ejhg.2010.23","volume":"18","author":"KP Hoornaert","year":"2010","unstructured":"Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Bjorck E, Bonduelle M, Boute O et al (2010) Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet 18(8):872\u2013880","journal-title":"Eur J Hum Genet"}],"container-title":["European Archives of Oto-Rhino-Laryngology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-016-3896-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00405-016-3896-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-016-3896-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-016-3896-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T14:16:12Z","timestamp":1559052972000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00405-016-3896-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,19]]},"references-count":24,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["3896"],"URL":"https:\/\/doi.org\/10.1007\/s00405-016-3896-6","relation":{},"ISSN":["0937-4477","1434-4726"],"issn-type":[{"value":"0937-4477","type":"print"},{"value":"1434-4726","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,19]]}}}