These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 8588592)

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

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

  • 3. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
    Pina-Neto JM; Defino HL; Guedes ML; Jorge SM
    Am J Med Genet; 1996 Jan; 61(2):131-3. PubMed ID: 8669438
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 86(3):245-52. PubMed ID: 10482874
    [TBL] [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; 141(3):337-41. PubMed ID: 6435203
    [TBL] [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; 26(4):308-17. PubMed ID: 6499247
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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; 17(6):323-7. PubMed ID: 18841068
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 39(3):287-297. PubMed ID: 38477767
    [TBL] [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; 106(6 Suppl 1):S54-6. PubMed ID: 27245527
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 28(7):1053-1063. PubMed ID: 30358852
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 15. 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; 125A(1):61-6. PubMed ID: 14755468
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.
    Ricci R; Aulisa L; Antuzzi D; Serra F; Segni G; Kozlowski K
    Pediatr Radiol; 1995; 25(4):303-5. PubMed ID: 7567245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 45(5):771-6. PubMed ID: 25256152
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.
    Beighton P; Kozlowski K; Gericke G; Wallis G; Grobler L
    S Afr Med J; 1983 Nov; 64(20):772-5. PubMed ID: 6635864
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 87(5):492-5. PubMed ID: 24766538
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 117A(2):147-53. PubMed ID: 12567412
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.