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Journal Abstract Search

141 related items for PubMed ID: 17676604

  • 21. A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
    Sabbagh Q, Alkar F, Patte K, Prodhomme O, Janel C, Touraine R, Jeandel C, Geneviève D.
    Eur J Med Genet; 2022 Jun; 65(6):104495. PubMed ID: 35427807
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  • 22. 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
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  • 23. IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
    De Kinderen P, Peeters S, Rabaut L, Mortier G, Ponsaerts P, Loeys B, Verstraeten A, Meester JAN.
    Stem Cell Res; 2023 Mar 19; 67():103024. PubMed ID: 36640472
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  • 25. 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 19; 87(5):492-5. PubMed ID: 24766538
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  • 27. 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 19; 38(8):803-11. PubMed ID: 19277648
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  • 28. 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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  • 30. Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.
    Patel AC, McAlister WH, Whyte MP.
    Medicine (Baltimore); 1993 Sep 01; 72(5):326-42. PubMed ID: 8412645
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  • 31. 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 01; 176(9):2009-2016. PubMed ID: 30063090
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  • 32. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
    Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y.
    Eur J Med Genet; 2020 Nov 01; 63(11):104021. PubMed ID: 32755715
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  • 35. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
    Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2010 Oct 01; 152A(10):2543-9. PubMed ID: 20830804
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  • 36. 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
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  • 39. A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
    Rossi M, De Brasi D, Hall CM, Battagliese A, Melis D, Sebastio G, Andria G.
    Clin Dysmorphol; 2005 Jan 25; 14(1):13-18. PubMed ID: 15602087
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