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Journal Abstract Search

153 related items for PubMed ID: 12687669

  • 1. 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]

  • 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. 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]

  • 4. 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 30; 185(3):856-865. PubMed ID: 33305909
    [Abstract] [Full Text] [Related]

  • 5. Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.
    Chen E, Cotter PD, Cohen RA, Lachman RS.
    Am J Med Genet; 2001 Jul 01; 101(3):240-5. PubMed ID: 11424139
    [Abstract] [Full Text] [Related]

  • 6. [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 Jul 01; 218(2):79-84. PubMed ID: 16506108
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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 Jul 01; 12():1341841. PubMed ID: 38628360
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 12(1):1-8. PubMed ID: 12514358
    [Abstract] [Full Text] [Related]

  • 11. 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 Jan 01; 52(4):242-6. PubMed ID: 19371797
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
    Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N.
    Clin Dysmorphol; 1998 Oct 17; 7(4):257-62. PubMed ID: 9823491
    [Abstract] [Full Text] [Related]

  • 14. 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 17; 77(3):266-72. PubMed ID: 20447141
    [Abstract] [Full Text] [Related]

  • 15. Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.
    Artilheiro V, Portela F, Reis AT.
    J Appl Genet; 2020 Dec 17; 61(4):571-573. PubMed ID: 32910413
    [Abstract] [Full Text] [Related]

  • 16. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
    Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.
    Am J Hum Genet; 2004 Feb 17; 74(2):298-305. PubMed ID: 14740318
    [Abstract] [Full Text] [Related]

  • 17. 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 17; 38(5):553-8. PubMed ID: 21337444
    [Abstract] [Full Text] [Related]

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

  • 19. [Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome].
    Navarrete Faubel FE, Pérez Aytés A, Pastor Rosado J, Mascarell Gregoria A.
    An Esp Pediatr; 2002 May 17; 56(5):473-4. PubMed ID: 12042125
    [No Abstract] [Full Text] [Related]

  • 20. Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue.
    Lobato-Berezo A, Tormo-Mainar S, Pujol RM.
    Pediatr Dermatol; 2020 Mar 17; 37(2):381-382. PubMed ID: 31975458
    [Abstract] [Full Text] [Related]

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