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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

123 related items for PubMed ID: 30284759

  • 1. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
    Campos-Xavier B, Rogers RC, Niel-Bütschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A.
    Am J Med Genet A; 2018 Dec; 176(12):2934-2935. PubMed ID: 30284759
    [No Abstract] [Full Text] [Related]

  • 2. 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; 26(4):308-17. PubMed ID: 6499247
    [Abstract] [Full Text] [Related]

  • 3. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
    Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
    Hum Mutat; 2022 Dec; 43(12):2116-2129. PubMed ID: 36150098
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Spondylo-epi-metaphyseal dysplasia.
    Cormier-Daire V.
    Best Pract Res Clin Rheumatol; 2008 Mar 11; 22(1):33-44. PubMed ID: 18328979
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
    Kozlowski K, Beighton P.
    Rofo; 1984 Sep 17; 141(3):337-41. PubMed ID: 6435203
    [Abstract] [Full Text] [Related]

  • 8. 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 17; 87(5):492-5. PubMed ID: 24766538
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
    Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K.
    Eur J Hum Genet; 2016 Aug 06; 24(8):1206-10. PubMed ID: 26669664
    [Abstract] [Full Text] [Related]

  • 11. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
    Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V.
    J Med Genet; 2004 May 06; 41(5):366-72. PubMed ID: 15121775
    [No Abstract] [Full Text] [Related]

  • 12. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
    Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M.
    Am J Med Genet A; 2018 Sep 06; 176(9):2009-2016. PubMed ID: 30063090
    [Abstract] [Full Text] [Related]

  • 13. 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 06; 45(5):771-6. PubMed ID: 25256152
    [Abstract] [Full Text] [Related]

  • 14. Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome.
    Rybak M, Foley TP, Kozlowski K.
    Am J Med Genet; 1991 Sep 01; 40(3):304-6. PubMed ID: 1951433
    [Abstract] [Full Text] [Related]

  • 15. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).
    Kozlowski K, Robben S, Bellemore M, Sillence D, Zonderland H.
    Radiol Med; 1993 Sep 01; 85(1-2):7-11. PubMed ID: 8480052
    [Abstract] [Full Text] [Related]

  • 16. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996 Sep 01; 7(3):219-25. PubMed ID: 8897044
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 17(6):323-7. PubMed ID: 18841068
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 185(10):3153-3160. PubMed ID: 34159694
    [Abstract] [Full Text] [Related]

  • 19. [Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].
    Zhang J, Huang K, Dong G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug 10; 37(8):887-890. PubMed ID: 32761602
    [Abstract] [Full Text] [Related]

  • 20. Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta.
    Goldblatt J, Carman P, Sprague P.
    Am J Med Genet; 1991 May 01; 39(2):170-2. PubMed ID: 2063920
    [Abstract] [Full Text] [Related]

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