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174 related items for PubMed ID: 9674906

  • 1. Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
    Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A.
    Am J Med Genet; 1998 Jun 30; 78(2):150-4. PubMed ID: 9674906
    [Abstract] [Full Text] [Related]

  • 2. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
    Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.
    Am J Med Genet; 1998 Jun 30; 78(2):146-9. PubMed ID: 9674905
    [Abstract] [Full Text] [Related]

  • 3. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
    Di Rocco M, Stella G, Bruno C, Doria Lamba L, Bado M, Superti-Furga A.
    Am J Med Genet A; 2003 May 01; 118A(4):362-8. PubMed ID: 12687669
    [Abstract] [Full Text] [Related]

  • 4. [Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate].
    Reither M, Urban M, Kozlowski KS, Pritsch M, Tegtmeyer FK.
    Klin Padiatr; 2006 May 01; 218(2):79-84. PubMed ID: 16506108
    [Abstract] [Full Text] [Related]

  • 5. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
    Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A.
    Eur J Pediatr; 1997 Mar 01; 156(3):214-23. PubMed ID: 9083764
    [Abstract] [Full Text] [Related]

  • 6. Presentation of six cases of Stüve-Wiedemann syndrome.
    Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Le Merrer M.
    Pediatr Radiol; 1998 Oct 01; 28(10):776-80. PubMed ID: 9799300
    [Abstract] [Full Text] [Related]

  • 7. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
    Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D.
    J Med Genet; 1996 Mar 01; 33(3):203-11. PubMed ID: 8728692
    [Abstract] [Full Text] [Related]

  • 8. A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.
    Bhalla D, Sati S, Basel D, Karody V.
    Front Pediatr; 2024 Mar 01; 12():1341841. PubMed ID: 38628360
    [Abstract] [Full Text] [Related]

  • 9. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
    Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE.
    Am J Med Genet; 2000 Oct 02; 94(4):287-95. PubMed ID: 11038441
    [Abstract] [Full Text] [Related]

  • 10. Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
    Brown KA, al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF.
    J Med Genet; 1997 Aug 02; 34(8):685-7. PubMed ID: 9279765
    [Abstract] [Full Text] [Related]

  • 11. Schwartz-Jampel syndrome with dominant inheritance.
    Pascuzzi RM, Gratianne R, Azzarelli B, Kincaid JC.
    Muscle Nerve; 1990 Dec 02; 13(12):1152-63. PubMed ID: 2266988
    [Abstract] [Full Text] [Related]

  • 12. Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
    Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V.
    Clin Genet; 2010 Mar 02; 77(3):266-72. PubMed ID: 20447141
    [Abstract] [Full Text] [Related]

  • 13. Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.
    Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI.
    Eur J Med Genet; 2009 Mar 02; 52(4):242-6. PubMed ID: 19371797
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  • 15. [Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].
    Langer R, Al-Gazali L, Haas D, Raupp P, Varady E.
    Rofo; 2004 Feb 02; 176(2):215-21. PubMed ID: 14872375
    [Abstract] [Full Text] [Related]

  • 16. Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.
    Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM.
    Ultrasound Obstet Gynecol; 2011 Nov 02; 38(5):553-8. PubMed ID: 21337444
    [Abstract] [Full Text] [Related]

  • 17. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
    Romeo Bertola D, Honjo RS, Baratela WA.
    Mol Syndromol; 2016 Apr 02; 7(1):12-8. PubMed ID: 27194968
    [Abstract] [Full Text] [Related]

  • 18. Siblings of Schwartz-Jampel syndrome with abnormal muscle computed tomographic findings.
    Iwata H, Ozawa H, Kamei A, Sasaki M, Hanaoka S, Sugai K, Hashimoto T, Nonaka I.
    Brain Dev; 2000 Dec 02; 22(8):494-7. PubMed ID: 11111063
    [Abstract] [Full Text] [Related]

  • 19. One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.
    Koul R, Al-Kindy A, Mani R, Sankhla D, Al-Futaisi A.
    Sultan Qaboos Univ Med J; 2013 May 02; 13(2):301-5. PubMed ID: 23862038
    [Abstract] [Full Text] [Related]

  • 20. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
    Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y.
    Am J Hum Genet; 2002 May 02; 70(5):1368-75. PubMed ID: 11941538
    [Abstract] [Full Text] [Related]

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