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Journal Abstract Search

181 related items for PubMed ID: 20830804

  • 1. 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; 152A(10):2543-9. PubMed ID: 20830804
    [Abstract] [Full Text] [Related]

  • 2. 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; 82(6):1368-74. PubMed ID: 18513679
    [Abstract] [Full Text] [Related]

  • 3. 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; 194(3):e63422. PubMed ID: 37876363
    [Abstract] [Full Text] [Related]

  • 4. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
    Duz MB, Topak A.
    Clin Dysmorphol; 2020 Oct; 29(4):167-172. PubMed ID: 32639237
    [Abstract] [Full Text] [Related]

  • 5. 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; 161A(10):2588-93. PubMed ID: 23918704
    [Abstract] [Full Text] [Related]

  • 6.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Superti-Furga A, Unger S.
    ; 1993 Oct. PubMed ID: 21882400
    [Abstract] [Full Text] [Related]

  • 7. 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; 173(1):163-168. PubMed ID: 27753269
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. 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]

  • 11. 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 15; 80(3):658-668. PubMed ID: 36729370
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 75(4):375-83. PubMed ID: 19320654
    [Abstract] [Full Text] [Related]

  • 13. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
    Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V.
    Eur J Hum Genet; 2015 Jan 15; 23(1):49-53. PubMed ID: 24755949
    [Abstract] [Full Text] [Related]

  • 14. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
    Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.
    Hum Mutat; 2012 Aug 15; 33(8):1261-6. PubMed ID: 22539336
    [Abstract] [Full Text] [Related]

  • 15. [Larsen-syndrome: final diagnosis following multiple surgical interventions].
    Kisfali P, Komlósi K, Hadzsiev K, Melegh B.
    Orv Hetil; 2013 Jan 27; 154(4):143-6. PubMed ID: 23335724
    [Abstract] [Full Text] [Related]

  • 16. CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
    Otaify GA, Elhossini RM, Abdel-Ghafar SF, Sayed IM, Abdel-Salam GMH, Aglan MS, Abdel-Hamid MS.
    Am J Med Genet A; 2023 Aug 27; 191(8):2100-2112. PubMed ID: 37183573
    [Abstract] [Full Text] [Related]

  • 17. Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant.
    Mostello D, Hoechstetter L, Bendon RW, Dignan PS, Oestreich AE, Siddiqi TA.
    Prenat Diagn; 1991 Apr 27; 11(4):215-25. PubMed ID: 1716760
    [Abstract] [Full Text] [Related]

  • 18. CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
    Kosho T.
    Pediatr Int; 2016 Feb 27; 58(2):88-99. PubMed ID: 26646600
    [Abstract] [Full Text] [Related]

  • 19. Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
    Magnani C, Tedesco SA, Dallaglio S, Sommi M, Bacchini E, Vetro A, Zuffardi O, Bevilacqua G.
    Am J Med Genet A; 2009 Feb 15; 149A(4):737-41. PubMed ID: 19288552
    [Abstract] [Full Text] [Related]

  • 20. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
    Piwar H, Ordak M, Bujalska-Zadrozny M.
    Int J Mol Sci; 2024 Sep 07; 25(17):. PubMed ID: 39273648
    [Abstract] [Full Text] [Related]

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