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Journal Abstract Search

128 related items for PubMed ID: 35718083

  • 1. Sedaghatian spondylometaphyseal dysplasia in two siblings.
    Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG.
    Eur J Med Genet; 2022 Aug; 65(8):104541. PubMed ID: 35718083
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  • 3. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings.
    Kerr B, Smith V, Patel R, Ladusans E, Sillence DO.
    Clin Dysmorphol; 2000 Jul; 9(3):167-72. PubMed ID: 10955475
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  • 4. A female case of Sedaghatian type spondylometaphyseal dysplasia.
    Foulds N, Fairhurst J, Temple IK, Cade S, Groves C, Lancaster T.
    Am J Med Genet A; 2003 May 01; 118A(4):377-81. PubMed ID: 12687672
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  • 5. Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.
    Fedida A, Ben Harouch S, Kalfon L, Abunassar Z, Omari H, Mandel H, Falik-Zaccai TC.
    Eur J Med Genet; 2020 Nov 01; 63(11):104020. PubMed ID: 32827718
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  • 6. Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum.
    English SJ, Gayatri N, Arthur R, Crow YJ.
    Am J Med Genet A; 2006 Sep 01; 140A(17):1854-8. PubMed ID: 16892303
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  • 7. Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
    Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L.
    Am J Med Genet A; 2012 Jun 01; 158A(6):1400-5. PubMed ID: 22529034
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  • 10. Spondylometaphyseal dysplasia: Sedaghatian type.
    Koutouby A, Habibullah J, Moinuddin FA.
    Am J Med Genet; 2000 Jan 31; 90(3):199-202. PubMed ID: 10678656
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  • 11. Severe neonatal spondylometaphyseal dysplasia in two siblings.
    Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K.
    Am J Med Genet A; 2009 Oct 31; 149A(10):2166-72. PubMed ID: 19764033
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  • 12. Distinctive spondylometaphyseal dysplasia in two siblings.
    Kozlowski K, Poon CC.
    Am J Med Genet A; 2003 Jan 30; 116A(3):304-9. PubMed ID: 12503112
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  • 13. Jansen type of spondylometaphyseal dysplasia.
    Campbell JB, Kozlowski K, Lejman T, Sulko J.
    Skeletal Radiol; 2000 Apr 30; 29(4):239-42. PubMed ID: 10855475
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  • 14. Spondylometaphyseal dysplasia with cone-rod dystrophy.
    Turell M, Morrison S, Traboulsi EI.
    Ophthalmic Genet; 2010 Mar 30; 31(1):12-7. PubMed ID: 20141353
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  • 15. Axial spondylometaphyseal dysplasia.
    Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
    Eur J Pediatr; 1997 Aug 30; 156(8):627-30. PubMed ID: 9266195
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  • 16. Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.
    Cheff DM, Muotri AR, Stockwell BR, Schmidt EE, Ran Q, Kartha RV, Johnson SC, Mittal P, Arnér ESJ, Wigby KM, Hall MD, Ramesh SK.
    Orphanet J Rare Dis; 2021 Oct 23; 16(1):446. PubMed ID: 34688299
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  • 17. Spondylometaphyseal dysplasia with cone-rod dystrophy.
    Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G.
    Am J Med Genet A; 2011 Apr 23; 155A(4):845-9. PubMed ID: 21412974
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  • 18. An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
    Sobreira N, Modaff P, Steel G, You J, Nanda S, Hoover-Fong J, Valle D, Pauli RM.
    Am J Med Genet A; 2015 Jan 23; 167A(1):159-63. PubMed ID: 25348816
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  • 19. Brachyolmia and spinal stenosis.
    Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413
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  • 20. Spondylometaphyseal dysplasia: further heterogeneity.
    Borochowitz Z, Berant M, Kristal H.
    Skeletal Radiol; 1988 Jul 15; 17(3):181-6. PubMed ID: 3375844
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