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Journal Abstract Search

143 related items for PubMed ID: 11932993

  • 1. A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?
    Kantaputra PN, Kinoshita A, Limwonges C, Praditsup O, Niikawa N.
    Am J Med Genet; 2002 Apr 15; 109(1):56-60. PubMed ID: 11932993
    [Abstract] [Full Text] [Related]

  • 2. Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings.
    Kantaputra PN.
    Am J Med Genet; 2002 Sep 01; 111(4):420-8. PubMed ID: 12210304
    [Abstract] [Full Text] [Related]

  • 3. Symphalangism in children. Case report and review of the literature.
    Letts M, Davidson D, Beaulé P.
    Clin Orthop Relat Res; 1999 Sep 01; (366):178-85. PubMed ID: 10627733
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 32(8):877-86. PubMed ID: 21538686
    [Abstract] [Full Text] [Related]

  • 5.
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  • 6. Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
    Ventruto V, Di Girlamo R, Festa B, Romano A, Sebastio G, Sebastio L.
    J Med Genet; 1976 Oct 01; 13(5):394-8. PubMed ID: 1003450
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  • 8. Distal symphalangism: a report of two families.
    Poush JR.
    J Hered; 1991 Oct 01; 82(3):233-8. PubMed ID: 2061594
    [Abstract] [Full Text] [Related]

  • 9. A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5.
    Kantaputra PN, Pongprot Y, Praditsap O, Pho-iam T, Limwongse C.
    Am J Med Genet A; 2003 Jul 30; 120A(3):381-5. PubMed ID: 12838559
    [Abstract] [Full Text] [Related]

  • 10. Distal symphalangism: symbrachydactylism arising in a family with distal symphalangism.
    Halpern AA, Wheeler RD, Schurman DJ.
    Clin Orthop Relat Res; 1979 Jun 30; (141):251-5. PubMed ID: 477114
    [Abstract] [Full Text] [Related]

  • 11. Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.
    Ohzeki T, Hanaki K, Motozumi H, Ohtahara H, Shiraki K, Yoshioka K.
    Am J Med Genet; 1993 May 15; 46(3):260-2. PubMed ID: 8387724
    [Abstract] [Full Text] [Related]

  • 12. [Symphalangism with fused carpal bones].
    Yanagawa T, Inoue S, Kira S, Sakamoto T.
    Seikei Geka; 1971 Mar 15; 22(3):238-43. PubMed ID: 5102574
    [No Abstract] [Full Text] [Related]

  • 13. New syndrome of skeletal, dental and hair anomalies.
    Sensenbrenner JA, Dorst JP, Owens RP.
    Birth Defects Orig Artic Ser; 1975 Mar 15; 11(2):372-9. PubMed ID: 1227553
    [Abstract] [Full Text] [Related]

  • 14. [Symbrachydactyly--a roentgenographic and clinical study of 126 cases].
    Senrui H.
    Nihon Seikeigeka Gakkai Zasshi; 1984 Jul 15; 58(7):659-76. PubMed ID: 6501980
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  • 15. [Stapes fixation and proximal symphalangism caused by autosomal dominant transmission (author's transl)].
    Baschek V.
    Laryngol Rhinol Otol (Stuttg); 1978 Apr 15; 57(4):299-304. PubMed ID: 651475
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 82(6):514-20. PubMed ID: 22288654
    [Abstract] [Full Text] [Related]

  • 17. [Hereditary symphalangism: observations on this syndrome in a newborn infant and his mother (author's transl)].
    Rosegger H, Wendler H, Nika W.
    Wien Klin Wochenschr; 1976 Sep 17; 88(17):564-7. PubMed ID: 997541
    [Abstract] [Full Text] [Related]

  • 18. Multiple synostosis syndrome: study of a large Brazilian kindred.
    da-Silva EO, Filho SM, de Albuquerque SC.
    Am J Med Genet; 1984 Jun 17; 18(2):237-47. PubMed ID: 6465200
    [Abstract] [Full Text] [Related]

  • 19. 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 17; 60(6):447-51. PubMed ID: 11846737
    [Abstract] [Full Text] [Related]

  • 20. 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 17; 51(4):351-7. PubMed ID: 18440889
    [Abstract] [Full Text] [Related]

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