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Journal Abstract Search

189 related items for PubMed ID: 22796475

  • 1. Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
    van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stöbe L, Pennings RJ, Leuwer R, Snik AF, Kunst HP.
    Hear Res; 2012 Sep; 291(1-2):15-23. PubMed ID: 22796475
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  • 2. Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.
    Plantinga RF, Cremers CW, Huygen PL, Kunst HP, Bosman AJ.
    J Assoc Res Otolaryngol; 2007 Mar; 8(1):1-7. PubMed ID: 17136632
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  • 3. Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.
    Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP.
    Hear Res; 2011 Dec; 282(1-2):243-51. PubMed ID: 21810457
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  • 4. Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation.
    Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW.
    Laryngoscope; 2000 Mar; 110(3 Pt 1):457-61. PubMed ID: 10718438
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  • 8. Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
    Acke FR, Swinnen FK, Malfait F, Dhooge IJ, De Leenheer EM.
    Eur Arch Otorhinolaryngol; 2016 Oct; 273(10):3025-34. PubMed ID: 26786361
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  • 9. Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
    Brizola E, Gnoli M, Tremosini M, Nucci P, Bargiacchi S, La Barbera A, Giglio S, Sangiorgi L.
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1353. PubMed ID: 32558342
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  • 11. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
    Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP.
    Hear Res; 2011 Dec; 282(1-2):167-77. PubMed ID: 21893181
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  • 13. Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).
    Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW.
    Arch Otolaryngol Head Neck Surg; 2003 Apr; 129(4):421-6. PubMed ID: 12707188
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  • 14. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
    Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ.
    Mol Genet Metab; 2014 Nov; 113(3):230-5. PubMed ID: 25240749
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  • 15. Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.
    De Leenheer EM, Bosman AJ, Kunst HP, Huygen PL, Cremers CW.
    Ann Otol Rhinol Laryngol; 2004 Nov; 113(11):922-9. PubMed ID: 15562903
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  • 18. Audiometric characteristics of USH2a patients.
    Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW.
    Audiol Neurootol; 2009 Nov; 14(4):223-31. PubMed ID: 19129697
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  • 20. Auditory dysfunction in type 2 Stickler Syndrome.
    Alexander P, Gomersall P, Stancel-Lewis J, Fincham GS, Poulson A, Richards A, McNinch A, Baguley DM, Snead M.
    Eur Arch Otorhinolaryngol; 2021 Jul; 278(7):2261-2268. PubMed ID: 32901364
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