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Journal Abstract Search

159 related items for PubMed ID: 19277648

  • 1. A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
    Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S.
    Skeletal Radiol; 2009 Aug; 38(8):803-11. PubMed ID: 19277648
    [Abstract] [Full Text] [Related]

  • 2. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients.
    Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S.
    Am J Med Genet A; 2003 Mar 01; 117A(2):147-53. PubMed ID: 12567412
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  • 7. Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.
    Mégarbané A, Ghanem I, Le Merrer M.
    Am J Med Genet A; 2003 Oct 15; 122A(3):252-6. PubMed ID: 12966527
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  • 8.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bhavani GS, Singh S, Girisha KM.
    ; 1993 Oct 15. PubMed ID: 37229238
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  • 9. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
    Hall CM, Elçioglu NH, Shaw DG.
    J Med Genet; 1998 Jul 15; 35(7):566-72. PubMed ID: 9678701
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  • 10. Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
    Beke A, da Costa Silveira K, Athey T, Kannu P.
    Am J Med Genet C Semin Med Genet; 2023 Jun 15; 193(2):188-192. PubMed ID: 37226647
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  • 11. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
    Smith W, Ji HP, Mouradian W, Pagon RA.
    Am J Med Genet; 1999 Sep 17; 86(3):245-52. PubMed ID: 10482874
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  • 12. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
    Pina-Neto JM, Defino HL, Guedes ML, Jorge SM.
    Am J Med Genet; 1996 Jan 11; 61(2):131-3. PubMed ID: 8669438
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  • 13. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
    Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ.
    Am J Hum Genet; 2011 Dec 09; 89(6):760-6. PubMed ID: 22152677
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  • 14. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
    Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V.
    J Bone Miner Res; 2024 Apr 19; 39(3):287-297. PubMed ID: 38477767
    [Abstract] [Full Text] [Related]

  • 15. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996 Apr 19; 7(3):219-25. PubMed ID: 8897044
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  • 16. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.
    Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D.
    Am J Med Genet; 1993 Jun 01; 46(4):358-62. PubMed ID: 8357004
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  • 17. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.
    Al Kaissi A, Chehida FB, Ghachem MB, Klaushofer K, Grill F.
    Skeletal Radiol; 2008 May 01; 37(5):469-73. PubMed ID: 18256824
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  • 18. Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
    Holder-Espinasse M, Fayoux P, Morillon S, Fourier C, Dieux-Coeslier A, Manouvrier-Hanu S, Le Merrer M, Hall CM.
    Clin Dysmorphol; 2004 Jul 01; 13(3):133-135. PubMed ID: 15194947
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  • 19. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.
    Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M.
    Am J Med Genet A; 2004 Feb 15; 125A(1):61-6. PubMed ID: 14755468
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  • 20. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
    Kozlowski K, Beighton P.
    Rofo; 1984 Sep 15; 141(3):337-41. PubMed ID: 6435203
    [Abstract] [Full Text] [Related]

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