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Journal Abstract Search

189 related items for PubMed ID: 9674905

  • 1. 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
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  • 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
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  • 5. [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
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  • 7. 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
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  • 9. 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
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  • 10. 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 17; 185(3):856-865. PubMed ID: 33305909
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  • 11. 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
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  • 12. [Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].
    Langer R, Al-Gazali L, Haas D, Raupp P, Varady E.
    Rofo; 2004 Feb 17; 176(2):215-21. PubMed ID: 14872375
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  • 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
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  • 14. 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 Oct 17; 12():1341841. PubMed ID: 38628360
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  • 16. Neonatal manifestations of Schwartz-Jampel syndrome.
    Farrell SA, Davidson RG, Thorp P.
    Am J Med Genet; 1987 Aug 17; 27(4):799-805. PubMed ID: 3321990
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  • 18. 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 17; 33(3):203-11. PubMed ID: 8728692
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  • 19. Schwartz-Jampel syndrome with dominant inheritance.
    Pascuzzi RM, Gratianne R, Azzarelli B, Kincaid JC.
    Muscle Nerve; 1990 Dec 17; 13(12):1152-63. PubMed ID: 2266988
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  • 20. 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
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