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Journal Abstract Search

134 related items for PubMed ID: 2080998

  • 1. 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; 1(2):133-40. PubMed ID: 2080998
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  • 2. [Clinical aspects, diagnosis and surgical treatment of developmental anomalies of the cervical spine].
    Vetrilé ST, Kolesov SV.
    Sov Med; 1991; (4):21-3. PubMed ID: 1871618
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  • 3. [Stapes fixation and proximal symphalangism caused by autosomal dominant transmission (author's transl)].
    Baschek V.
    Laryngol Rhinol Otol (Stuttg); 1978 Apr; 57(4):299-304. PubMed ID: 651475
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  • 8. Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?
    Corsello G, Carcione A, Castro L, Giuffrè L.
    Klin Padiatr; 1990 Apr; 202(3):176-9. PubMed ID: 2355722
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  • 9. 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 Apr; 51(4):351-7. PubMed ID: 18440889
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  • 10. Complex facio-audio-symphalangism syndrome. An autosomal recessive type?
    Balci S, Yigitkanli I.
    Genet Couns; 2004 Apr; 15(4):463-8. PubMed ID: 15658623
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  • 11. Patterned expression in familial Klippel-Feil syndrome.
    Clarke RA, Kearsley JH, Walsh DA.
    Teratology; 1996 Mar; 53(3):152-7. PubMed ID: 8761882
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  • 12. Report of a girl with Klippel-feil syndrome and Poland anomaly.
    Erol M, Caksen H, Tan O, Atik B, Unal O, Odabaş D.
    Genet Couns; 2004 Mar; 15(4):469-72. PubMed ID: 15658624
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  • 16. Multiple synostosis syndrome: study of a large Brazilian kindred.
    da-Silva EO, Filho SM, de Albuquerque SC.
    Am J Med Genet; 1984 Jun; 18(2):237-47. PubMed ID: 6465200
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  • 17. The cardio-facio-cutaneous (CFC) syndrome: autosomal dominant inheritance in a large family.
    Fryns JP, Volcke P, Van den Berghe H.
    Genet Couns; 1992 Jun; 3(1):19-24. PubMed ID: 1590976
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  • 19. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
    Potti TA, Petty EM, Lesperance MM.
    Hum Mutat; 2011 Aug; 32(8):877-86. PubMed ID: 21538686
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