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Journal Abstract Search

189 related items for PubMed ID: 27194968

  • 1. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
    Romeo Bertola D, Honjo RS, Baratela WA.
    Mol Syndromol; 2016 Apr; 7(1):12-8. PubMed ID: 27194968
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  • 5. 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; 77(3):266-72. PubMed ID: 20447141
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  • 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; 185(3):856-865. PubMed ID: 33305909
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  • 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
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  • 15. 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 30; 7(4):257-62. PubMed ID: 9823491
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  • 17. Stuve-Wiedemann syndrome: is it underrecognized?
    Yeşil G, Lebre AS, Santos SD, Güran O, Özahi II, Daire VC, Güran T.
    Am J Med Genet A; 2014 Sep 30; 164A(9):2200-5. PubMed ID: 24988918
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  • 18. Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK.
    McDermott H, Simmonds J, Thyagarajan M, Genomics England Research Consortium, Islam L, Naik S, Titheradge H.
    Eur J Med Genet; 2023 Aug 30; 66(8):104788. PubMed ID: 37295610
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  • 19. 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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  • 20. Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn.
    Jin J, Rothämel P, Büchel J, Kammer B, Brunet T, Pattathu J, Flemmer AW, Nussbaum C, Schroepf S.
    Front Pediatr; 2023 May 01; 11():1329404. PubMed ID: 38239591
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