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Journal Abstract Search

84 related items for PubMed ID: 1801849

  • 1. Familial symphalangism syndrome transmitted through five generations.
    Moumoumi H, Mayelo V, Anthonioz P.
    Genet Couns; 1991; 2(3):139-46. PubMed ID: 1801849
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  • 2. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
    Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G.
    Clin Genet; 2001 Dec; 60(6):447-51. PubMed ID: 11846737
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  • 3. Symphalangism with metacarpophalangeal fusions and elbow abnormalities.
    Kassner EG, Katz I, Qazi QH.
    Pediatr Radiol; 1976 Feb 13; 4(2):103-7. PubMed ID: 967566
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  • 4. [Syndrome of symphalangism and stapes fixation: an autosomal dominant hereditary disease (author's transl)].
    Meinecke P, Passarge E.
    Dtsch Med Wochenschr; 1978 Oct 20; 103(42):1660, 1663-5. PubMed ID: 699789
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  • 5. 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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  • 8. Distal symphalangism: symbrachydactylism arising in a family with distal symphalangism.
    Halpern AA, Wheeler RD, Schurman DJ.
    Clin Orthop Relat Res; 1979 Jun 19; (141):251-5. PubMed ID: 477114
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  • 11. Genetic nosology and counseling of humeroradial synostosis.
    Pfeiffer RA, Braun-Quentin C.
    Genet Couns; 1994 Jun 19; 5(3):269-74. PubMed ID: 7811427
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  • 12. 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 19; 32(8):877-86. PubMed ID: 21538686
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  • 13. Symphalangism in children. Case report and review of the literature.
    Letts M, Davidson D, Beaulé P.
    Clin Orthop Relat Res; 1999 Sep 19; (366):178-85. PubMed ID: 10627733
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  • 14. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.
    Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S.
    Am J Med Genet A; 2008 Jun 15; 146A(12):1593-7. PubMed ID: 18470895
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  • 15. Multiple synostosis syndrome: study of a large Brazilian kindred.
    da-Silva EO, Filho SM, de Albuquerque SC.
    Am J Med Genet; 1984 Jun 15; 18(2):237-47. PubMed ID: 6465200
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  • 16. Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.
    Learman Y, Katznelson MB, Bonné-Tamir B, Engel J, Hertz M, Goodman RM.
    Am J Med Genet; 1981 Jun 15; 10(3):245-55. PubMed ID: 6272576
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  • 17. [Symphalangism and multiple synostoses disease: a study of 2 families].
    Pierson M, Tridon P, Wayoff M, Umana L.
    J Genet Hum; 1982 Nov 15; 30(4):351-8. PubMed ID: 7169600
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  • 19. A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
    Takano K, Ogasawara N, Matsunaga T, Mutai H, Sakurai A, Ishikawa A, Himi T.
    Hum Genome Var; 2016 Nov 15; 3():16023. PubMed ID: 27508084
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  • 20. The multiple synostoses syndrome. A plea for simplicity.
    Nixon JR.
    Clin Orthop Relat Res; 1978 Sep 15; (135):48-51. PubMed ID: 709952
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