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Journal Abstract Search

122 related items for PubMed ID: 10482874

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
    Bradburn JM, Hall BD.
    Am J Med Genet; 1995 Nov 06; 59(2):234-7. PubMed ID: 8588592
    [Abstract] [Full Text] [Related]

  • 4. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996 Nov 06; 7(3):219-25. PubMed ID: 8897044
    [Abstract] [Full Text] [Related]

  • 5. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
    Kozlowski K, Beighton P.
    Rofo; 1984 Sep 06; 141(3):337-41. PubMed ID: 6435203
    [Abstract] [Full Text] [Related]

  • 6. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.
    Beighton P, Gericke G, Kozlowski K, Grobler L.
    Clin Genet; 1984 Oct 06; 26(4):308-17. PubMed ID: 6499247
    [Abstract] [Full Text] [Related]

  • 7. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
    Sulko J, Kozlowski K.
    J Pediatr Orthop B; 2008 Nov 06; 17(6):323-7. PubMed ID: 18841068
    [Abstract] [Full Text] [Related]

  • 8. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Tsirikos AI, Mason DE, Scott CI, Chang WN.
    Am J Med Genet A; 2003 Jun 15; 119A(3):386-90. PubMed ID: 12784311
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.
    Tüysüz B, Yılmaz S, Erener-Ercan T, Bilguvar K, Günel M.
    Pediatr Radiol; 2015 Apr 19; 45(5):771-6. PubMed ID: 25256152
    [Abstract] [Full Text] [Related]

  • 11. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.
    Honey EM.
    S Afr Med J; 2016 May 25; 106(6 Suppl 1):S54-6. PubMed ID: 27245527
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 38(8):803-11. PubMed ID: 19277648
    [Abstract] [Full Text] [Related]

  • 13. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
    Vorster AA, Beighton P, Ramesar RS.
    Clin Genet; 2015 May 25; 87(5):492-5. PubMed ID: 24766538
    [Abstract] [Full Text] [Related]

  • 14. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Beighton P.
    J Med Genet; 1994 Feb 25; 31(2):136-40. PubMed ID: 8182720
    [No Abstract] [Full Text] [Related]

  • 15. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.
    Torrington M, Beighton P.
    Clin Genet; 1991 Mar 25; 39(3):210-3. PubMed ID: 2036742
    [Abstract] [Full Text] [Related]

  • 16. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
    Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G.
    Am J Med Genet A; 2021 Oct 25; 185(10):3153-3160. PubMed ID: 34159694
    [Abstract] [Full Text] [Related]

  • 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 25; 37(5):469-73. PubMed ID: 18256824
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
    Chimusa ER, Beighton P, Kumuthini J, Ramesar RS.
    Hum Mol Genet; 2019 Apr 01; 28(7):1053-1063. PubMed ID: 30358852
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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