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    Results: 15

    1.

    Hearing loss in skeletal dysplasia patients.

    Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J.

    Am J Med Genet A. 2012 Jul;158A(7):1551-5. doi: 10.1002/ajmg.a.35373. Epub 2012 May 24.

    PMID:
    22628261
    [PubMed - indexed for MEDLINE]
    2.

    Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-.

    Ohana E, Shcheynikov N, Park M, Muallem S.

    J Biol Chem. 2012 Feb 10;287(7):5122-32. doi: 10.1074/jbc.M111.297192. Epub 2011 Dec 21.

    PMID:
    22190686
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.

    Rode B, Dirami T, Bakouh N, Rizk-Rabin M, Norez C, Lhuillier P, Lorès P, Jollivet M, Melin P, Zvetkova I, Bienvenu T, Becq F, Planelles G, Edelman A, Gacon G, Touré A.

    Hum Mol Genet. 2012 Mar 15;21(6):1287-98. doi: 10.1093/hmg/ddr558. Epub 2011 Nov 25.

    PMID:
    22121115
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Review of cervical spine anomalies in genetic syndromes.

    McKay SD, Al-Omari A, Tomlinson LA, Dormans JP.

    Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Review.

    PMID:
    22045003
    [PubMed - indexed for MEDLINE]
    5.

    Sulfate in fetal development.

    Dawson PA.

    Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Review.

    PMID:
    21419855
    [PubMed - indexed for MEDLINE]
    6.

    Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

    Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L.

    Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13.

    PMID:
    21155763
    [PubMed - indexed for MEDLINE]
    7.

    New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

    Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K.

    Am J Med Genet A. 2010 Dec;152A(12):3036-42. doi: 10.1002/ajmg.a.33707.

    PMID:
    21077204
    [PubMed - indexed for MEDLINE]
    8.

    Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

    Dwyer E, Hyland J, Modaff P, Pauli RM.

    Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Review.

    PMID:
    21077202
    [PubMed - indexed for MEDLINE]
    9.

    Diastrophic dysplasia in a seven-year-old girl. Case study.

    Szczepaniak-Kubat A, Tesiorowski M, Merc-Gołebiowska Z, Jakubowska-Pietkiewicz E.

    Ortop Traumatol Rehabil. 2010 May-Jun;12(3):257-63. English, Polish.

    PMID:
    20693580
    [PubMed - indexed for MEDLINE]
    10.

    The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia.

    Weiner DS, Jonah D, Kopits S.

    J Pediatr Orthop. 2010 Jun;30(4):403-10. doi: 10.1097/BPO.0b013e3181e27f12.

    PMID:
    20502243
    [PubMed - indexed for MEDLINE]
    11.

    Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.

    Gualeni B, Facchini M, De Leonardis F, Tenni R, Cetta G, Viola M, Passi A, Superti-Furga A, Forlino A, Rossi A.

    Matrix Biol. 2010 Jul;29(6):453-60. doi: 10.1016/j.matbio.2010.05.001. Epub 2010 May 11.

    PMID:
    20470884
    [PubMed - indexed for MEDLINE]
    12.

    A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

    Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A.

    Am J Med Genet A. 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347.

    PMID:
    20358597
    [PubMed - indexed for MEDLINE]
    13.

    Regulated transport of sulfate and oxalate by SLC26A2/DTDST.

    Heneghan JF, Akhavein A, Salas MJ, Shmukler BE, Karniski LP, Vandorpe DH, Alper SL.

    Am J Physiol Cell Physiol. 2010 Jun;298(6):C1363-75. doi: 10.1152/ajpcell.00004.2010. Epub 2010 Mar 10. Erratum in: Am J Physiol Cell Physiol. 2011 Feb;300(2):C383.

    PMID:
    20219950
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Treatment of spinal deformities in patients with diastrophic dysplasia: a long-term, population based, retrospective outcome study.

    Jalanko T, Remes V, Peltonen J, Poussa M, Helenius I.

    Spine (Phila Pa 1976). 2009 Sep 15;34(20):2151-7. doi: 10.1097/BRS.0b013e31819c133f.

    PMID:
    19752701
    [PubMed - indexed for MEDLINE]
    15.

    Prenatal sonographic diagnosis of skeletal dysplasias.

    Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B.

    Ultrasound Obstet Gynecol. 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359.

    PMID:
    19548204
    [PubMed - indexed for MEDLINE]
    Free Article

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