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Journal Abstract Search

191 related items for PubMed ID: 19320654

  • 1. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
    Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S.
    Clin Genet; 2009 Apr; 75(4):375-83. PubMed ID: 19320654
    [Abstract] [Full Text] [Related]

  • 2. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
    Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S.
    Proc Natl Acad Sci U S A; 2004 Jul 06; 101(27):10155-60. PubMed ID: 15215498
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
    Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR.
    Am J Med Genet A; 2017 Jan 15; 173(1):163-168. PubMed ID: 27753269
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 90(1):90-5. PubMed ID: 26572954
    [Abstract] [Full Text] [Related]

  • 6. A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
    Xia XY, Cui YX, Zhou YC, Zhou X, Shi YC, Wei L, Li XJ, Huang YF, Huang TT.
    Clin Chim Acta; 2009 Dec 15; 410(1-2):39-42. PubMed ID: 19766614
    [Abstract] [Full Text] [Related]

  • 7. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
    Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.
    Am J Med Genet; 2002 Jun 15; 110(2):153-7. PubMed ID: 12116253
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 161A(10):2588-93. PubMed ID: 23918704
    [Abstract] [Full Text] [Related]

  • 9. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
    Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A.
    Am J Hum Genet; 2008 Jun 15; 82(6):1368-74. PubMed ID: 18513679
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.
    Albuz B, Çetin GO, Özhan B, Sarikepe B, Anlaş Ö, Öztürk M, Zeybek S, Sabir N, Bağci G, Semerci Gündüz CN.
    Clin Dysmorphol; 2020 Jan 30; 29(1):61-64. PubMed ID: 31567425
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  • 15. [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
    Li J, Chai X, Lu L, Zhu J, Du X, Zhao L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 30; 31(5):604-7. PubMed ID: 25297591
    [Abstract] [Full Text] [Related]

  • 16. Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
    Singh S, Jacob P, Patil SJ, Muranjan M, Shah H, Girisha KM, Bhavani GS.
    Am J Med Genet A; 2024 Mar 30; 194(3):e63422. PubMed ID: 37876363
    [Abstract] [Full Text] [Related]

  • 17. Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
    Xia XY, Cui YX, Huang YF, Pan LJ, Feng Y, Yang B, Li XJ, Zhu PY, Shi YC, Liang Q.
    Clin Chim Acta; 2008 Jan 30; 387(1-2):153-7. PubMed ID: 17920052
    [Abstract] [Full Text] [Related]

  • 18. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia.
    Hempelmann A, Kumar S, Muralitharan S, Sander T.
    Neurosci Lett; 2006 Jul 10; 402(1-2):118-20. PubMed ID: 16632198
    [Abstract] [Full Text] [Related]

  • 19. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.
    van Steensel MA, van Geel M, Parren LJ, Schrander-Stumpel CT, Marcus-Soekarman D.
    Exp Dermatol; 2008 Apr 10; 17(4):362-5. PubMed ID: 17979970
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 152A(10):2543-9. PubMed ID: 20830804
    [Abstract] [Full Text] [Related]

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