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Journal Abstract Search

129 related items for PubMed ID: 9382147

  • 1. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
    Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N.
    Am J Med Genet; 1997 Oct 17; 72(2):222-6. PubMed ID: 9382147
    [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. 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 30; 28(10):776-80. PubMed ID: 9799300
    [Abstract] [Full Text] [Related]

  • 4. [Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].
    Langer R, Al-Gazali L, Haas D, Raupp P, Varady E.
    Rofo; 2004 Feb 30; 176(2):215-21. PubMed ID: 14872375
    [Abstract] [Full Text] [Related]

  • 5. Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome.
    Raas-Rothschild A, Ergaz-Schaltiel Z, Bar-Ziv J, Rein AJ.
    Am J Med Genet A; 2003 Aug 30; 121A(2):156-8. PubMed ID: 12910496
    [Abstract] [Full Text] [Related]

  • 6. 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 Aug 30; 52(4):242-6. PubMed ID: 19371797
    [Abstract] [Full Text] [Related]

  • 7. Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
    Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J.
    Am J Med Genet A; 2006 Oct 15; 140(20):2248-50. PubMed ID: 16969869
    [No Abstract] [Full Text] [Related]

  • 8. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications.
    Bonthuis D, Morava E, Booij LH, Driessen JJ.
    Paediatr Anaesth; 2009 Mar 15; 19(3):212-7. PubMed ID: 19207241
    [Abstract] [Full Text] [Related]

  • 9. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features.
    Al-Gazali LI, Ravenscroft A, Feng A, Shubbar A, Al-Saggaf A, Haas D.
    Clin Dysmorphol; 2003 Jan 15; 12(1):1-8. PubMed ID: 12514358
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
    Siccha SM, Cueto AM, Parrón-Pajares M, González-Morán G, Pacio-Miguez M, Del Pozo Á, Solís M, Rodriguez-Jimenez C, Caino S, Fano V, Heath KE, García-Miñaúr S, Palomares-Bralo M, Santos-Simarro F.
    Am J Med Genet A; 2021 Mar 01; 185(3):856-865. PubMed ID: 33305909
    [Abstract] [Full Text] [Related]

  • 12. Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
    Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC.
    Am J Med Genet A; 2008 Jul 01; 146A(13):1748-53. PubMed ID: 18546280
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. [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 Jun 30; 218(2):79-84. PubMed ID: 16506108
    [Abstract] [Full Text] [Related]

  • 15. 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 30; 38(5):553-8. PubMed ID: 21337444
    [Abstract] [Full Text] [Related]

  • 16. Cumming syndrome: report of two additional cases.
    Dibbern KM, Graham JM, Lachman RS, Wilcox WR.
    Pediatr Radiol; 1998 Oct 30; 28(10):798-801. PubMed ID: 9799304
    [Abstract] [Full Text] [Related]

  • 17. 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 30; 77(3):266-72. PubMed ID: 20447141
    [Abstract] [Full Text] [Related]

  • 18. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.
    Rezza E, Iannaccone G, Lendvai D.
    Pediatr Radiol; 1984 Mar 30; 14(5):323-7. PubMed ID: 6472918
    [Abstract] [Full Text] [Related]

  • 19. Radiological manifestations of the skeleton, lungs and brain in Stueve-Wiedemann syndrome.
    Langer R, Al-Gazali L, Raupp P, Varady E.
    Australas Radiol; 2007 Jun 30; 51(3):203-10. PubMed ID: 17504309
    [Abstract] [Full Text] [Related]

  • 20. Stüve-Wiedemann syndrome: update and historical footnote.
    Wiedemann HR, Stüve A.
    Am J Med Genet; 1996 May 03; 63(1):12-6. PubMed ID: 8723080
    [Abstract] [Full Text] [Related]

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