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Journal Abstract Search

119 related items for PubMed ID: 10889003

  • 1. Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.
    Griffith AJ, Gebarski SS, Shepard NT, Kileny PR.
    Arch Otolaryngol Head Neck Surg; 2000 Jul; 126(7):891-4. PubMed ID: 10889003
    [Abstract] [Full Text] [Related]

  • 2. Audiologic Manifestations of Marshall Syndrome.
    Bacciu A, Di Lella F, Iaccarino I, Pasanisi E, Fava G, Vincenti V, Falcioni M.
    Otol Neurotol; 2018 Sep; 39(8):e691-e698. PubMed ID: 30020262
    [Abstract] [Full Text] [Related]

  • 3. Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
    Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA.
    Am J Med Genet A; 2014 Oct; 164A(10):2601-6. PubMed ID: 25073711
    [Abstract] [Full Text] [Related]

  • 4. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
    Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L.
    Am J Hum Genet; 1999 Oct; 65(4):974-83. PubMed ID: 10486316
    [Abstract] [Full Text] [Related]

  • 5. [Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].
    Sakka R, Kerkeni E, Chaabouni M, Chioukh FZ, Ben Amor S, M'rad R, Ben Yahia S, Chaabouni H, Monastiri K.
    Tunis Med; 2015 Mar; 93(3):170-4. PubMed ID: 26367406
    [Abstract] [Full Text] [Related]

  • 6. Marshall syndrome associated with a splicing defect at the COL11A1 locus.
    Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML.
    Am J Hum Genet; 1998 Apr; 62(4):816-23. PubMed ID: 9529347
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Further characterization of the DFNA1 audiovestibular phenotype.
    Lalwani AK, Jackler RK, Sweetow RW, Lynch ED, Raventós H, Morrow J, King MC, León PE.
    Arch Otolaryngol Head Neck Surg; 1998 Jun; 124(6):699-702. PubMed ID: 9639482
    [Abstract] [Full Text] [Related]

  • 9. Auditory dysfunction in Stickler syndrome.
    Szymko-Bennett YM, Mastroianni MA, Shotland LI, Davis J, Ondrey FG, Balog JZ, Rudy SF, McCullagh L, Levy HP, Liberfarb RM, Francomano CA, Griffith AJ.
    Arch Otolaryngol Head Neck Surg; 2001 Sep; 127(9):1061-8. PubMed ID: 11556853
    [Abstract] [Full Text] [Related]

  • 10. DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.
    Khetarpal U.
    Laryngoscope; 2000 Aug; 110(8):1379-84. PubMed ID: 10942145
    [Abstract] [Full Text] [Related]

  • 11. Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
    Nixon T, Richards AJ, Lomas A, Abbs S, Vasudevan P, McNinch A, Alexander P, Snead MP.
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1354. PubMed ID: 32578940
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
    Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H.
    J Med Case Rep; 2017 Aug 26; 11(1):237. PubMed ID: 28841907
    [Abstract] [Full Text] [Related]

  • 13. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
    Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K.
    Laryngoscope; 2002 Feb 26; 112(2):292-7. PubMed ID: 11889386
    [Abstract] [Full Text] [Related]

  • 14. A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
    Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M.
    J Med Genet; 2012 Apr 26; 49(4):246-8. PubMed ID: 22499343
    [No Abstract] [Full Text] [Related]

  • 15. Unilateral sensorineural hearing loss in children: the importance of temporal bone computed tomography and audiometric follow-up.
    Song JJ, Choi HG, Oh SH, Chang SO, Kim CS, Lee JH.
    Otol Neurotol; 2009 Aug 26; 30(5):604-8. PubMed ID: 19546828
    [Abstract] [Full Text] [Related]

  • 16. Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
    Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW.
    Otol Neurotol; 2004 Sep 26; 25(5):699-706. PubMed ID: 15353998
    [Abstract] [Full Text] [Related]

  • 17. Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.
    Okamoto Y, Mutai H, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Morimoto N, Sakamoto H, Ogahara N, Takagi A, Taiji H, Kaga K, Ogawa K, Matsunaga T.
    Laryngoscope; 2014 Apr 26; 124(4):E134-40. PubMed ID: 24105851
    [Abstract] [Full Text] [Related]

  • 18. Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
    Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q.
    Mol Vis; 2018 Apr 26; 24():560-573. PubMed ID: 30181686
    [Abstract] [Full Text] [Related]

  • 19. 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 26; 273(10):3025-34. PubMed ID: 26786361
    [Abstract] [Full Text] [Related]

  • 20. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
    Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R.
    Ann Hum Genet; 2020 Sep 26; 84(5):380-392. PubMed ID: 32427345
    [Abstract] [Full Text] [Related]

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