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Journal Abstract Search

138 related items for PubMed ID: 9220188

  • 1.
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  • 2. Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.
    Weekamp HH, Kremer H, Hoefsloot LH, Kuijpers-Jagtman AM, Cruysberg JR, Cremers CW.
    Otol Neurotol; 2005 Jan; 26(1):38-51. PubMed ID: 15699718
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  • 3. Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.
    Milunsky J, Suntra C, MacDonald CB.
    Am J Med Genet; 1999 Feb 19; 82(5):404-8. PubMed ID: 10069712
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  • 5. Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.
    Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N.
    Clin Genet; 2012 Dec 19; 82(6):514-20. PubMed ID: 22288654
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  • 7. P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
    Hirshoren N, Gross M, Banin E, Sosna J, Bargal R, Raas-Rothschild A.
    Eur J Med Genet; 2008 Dec 19; 51(4):351-7. PubMed ID: 18440889
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  • 9. Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
    Ishino T, Takeno S, Hirakawa K.
    Eur J Med Genet; 2015 Sep 19; 58(9):427-32. PubMed ID: 26211601
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  • 10. Characterization of a stapes ankylosis family with a NOG mutation.
    Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Gebarski SS, Lesperance MM.
    Otol Neurotol; 2003 Mar 19; 24(2):210-5. PubMed ID: 12621334
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  • 11. Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.
    Westergaard-Nielsen M, Amstrup T, Wanscher JH, Brusgaard K, Ousager LB.
    Int J Pediatr Otorhinolaryngol; 2018 May 19; 108():208-212. PubMed ID: 29605356
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  • 14. Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.
    Emery SB, Meyer A, Miller L, Lesperance MM.
    Otol Neurotol; 2009 Dec 19; 30(8):1204-8. PubMed ID: 19471170
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  • 16. The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.
    van den Ende JJ, Mattelaer P, Declau F, Vanhoenacker F, Claes J, Van Hul E, Baten E.
    Clin Dysmorphol; 2005 Apr 19; 14(2):73-80. PubMed ID: 15770128
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  • 18. Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy.
    Sellars S, Beighton P.
    Clin Genet; 1983 May 19; 23(5):376-9. PubMed ID: 6851230
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  • 19. [Stapes fixation and proximal symphalangism caused by autosomal dominant transmission (author's transl)].
    Baschek V.
    Laryngol Rhinol Otol (Stuttg); 1978 Apr 19; 57(4):299-304. PubMed ID: 651475
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  • 20. An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.
    Pfeiffer RA, Rott HD, Angerstein W.
    Genet Couns; 1990 Apr 19; 1(2):133-40. PubMed ID: 2080998
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