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Journal Abstract Search

148 related items for PubMed ID: 39359945

  • 1. A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
    Mughal TA, Asim M, Gillani SHUH, Chughtai NO, Batool SA, Hussain A, Shujaat K, Gilani SZT.
    Mol Syndromol; 2024 Oct; 15(5):355-361. PubMed ID: 39359945
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  • 2. Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
    Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S.
    BMC Musculoskelet Disord; 2022 Aug 30; 23(1):818. PubMed ID: 36042462
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  • 3. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct 30; 36(10):1004-8. PubMed ID: 26183434
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  • 4. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
    Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM.
    Clin Genet; 2016 Jul 30; 90(1):90-5. PubMed ID: 26572954
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  • 5. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
    Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB.
    Am J Med Genet A; 2020 Nov 30; 182(11):2715-2721. PubMed ID: 32856782
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  • 10. A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
    Liang H, Qi W, Jin C, Pang Q, Cui L, Jiang Y, Wang O, Li M, Xing X, Liu W, Xia W.
    Endocrine; 2023 Jun 30; 80(3):658-668. PubMed ID: 36729370
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  • 11. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
    Almatrafi A, Alfadhli F, Khan YN, Afzal S, Hashmi JA, Ullah A, Albalawi AM, Basit S.
    Genet Test Mol Biomarkers; 2019 May 30; 23(5):310-315. PubMed ID: 30932712
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  • 12. 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 30; 152A(10):2543-9. PubMed ID: 20830804
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  • 13. Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.
    Tanteles GA, Dixit A, Dhar S, Suri M.
    Am J Med Genet A; 2013 Oct 30; 161A(10):2588-93. PubMed ID: 23918704
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  • 14. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
    van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.
    Am J Med Genet A; 2008 Sep 15; 146A(18):2376-84. PubMed ID: 18698629
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  • 15. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
    Duz MB, Topak A.
    Clin Dysmorphol; 2020 Oct 15; 29(4):167-172. PubMed ID: 32639237
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  • 16. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
    Veeravagu A, Lad SP, Camara-Quintana JQ, Jiang B, Shuer L.
    World Neurosurg; 2013 Oct 15; 80(3-4):437.e1-8. PubMed ID: 22381876
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bhavani GS, Shah H, Shukla A, Dalal A, Girisha KM.
    ; 1993 Oct 15. PubMed ID: 26610319
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