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Journal Abstract Search

118 related items for PubMed ID: 26279654

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  • 23. Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.
    Catavorello A, Vitale SG, Rossetti D, Caldaci L, Panella MM.
    J Prenat Med; 2013 Jul; 7(3):35-8. PubMed ID: 24175015
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  • 27. Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.
    Al Kaissi A, Rumpler M, Csepan R, Grill F, Klaushofer K.
    Cases J; 2008 Aug 21; 1(1):121. PubMed ID: 18718019
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  • 28. [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 Aug 21; 218(2):79-84. PubMed ID: 16506108
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  • 29. Stüve-Wiedemann syndrome and related bent bone dysplasias.
    Akawi NA, Ali BR, Al-Gazali L.
    Clin Genet; 2012 Jul 21; 82(1):12-21. PubMed ID: 22300393
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  • 32. Bilateral giant retinal tears in a pediatric patient with leukemia inhibitory factor receptor deficiency (Stuve-Wiedemann syndrome).
    Palejwala NV, Stempel AJ, Stout JT.
    Retin Cases Brief Rep; 2015 Jul 21; 9(3):245-7. PubMed ID: 25876185
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  • 33. 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 21; 38(5):553-8. PubMed ID: 21337444
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  • 37. 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
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  • 38. Stüve-Wiedemann syndrome in a neonate.
    Sarafidis K, Piretzi K, Agakidou E, Kohlhase J, Zafeiriou D.
    Pediatr Int; 2015 Apr 01; 57(2):302-4. PubMed ID: 25868946
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  • 39. 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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  • 40. Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
    Li H, Jin P, Hao Q, Zhu W, Chen X, Wang P.
    Genet Test Mol Biomarkers; 2017 Nov 30; 21(11):681-685. PubMed ID: 29045167
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