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Journal Abstract Search

229 related items for PubMed ID: 24598000

  • 1. SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
    Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A.
    Clin Genet; 2015 Mar; 87(3):273-8. PubMed ID: 24598000
    [Abstract] [Full Text] [Related]

  • 2. SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.
    Härkönen H, Loid P, Mäkitie O.
    Genes (Basel); 2021 May 11; 12(5):. PubMed ID: 34064542
    [Abstract] [Full Text] [Related]

  • 3. A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
    Bonafé L, Hästbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A.
    J Med Genet; 2008 Dec 11; 45(12):827-31. PubMed ID: 18708426
    [Abstract] [Full Text] [Related]

  • 4. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.
    Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML.
    Am J Med Genet A; 2013 Aug 11; 161A(8):2088-94. PubMed ID: 23840040
    [Abstract] [Full Text] [Related]

  • 5. 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 11; 80(6):550-7. PubMed ID: 21155763
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
    Rossi A, Superti-Furga A.
    Hum Mutat; 2001 Mar 11; 17(3):159-71. PubMed ID: 11241838
    [Abstract] [Full Text] [Related]

  • 7. Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
    Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH.
    J Korean Med Sci; 2010 Jul 11; 25(7):1105-8. PubMed ID: 20592910
    [Abstract] [Full Text] [Related]

  • 8. Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
    Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O.
    Eur J Med Genet; 2019 Nov 11; 62(11):103573. PubMed ID: 30423444
    [Abstract] [Full Text] [Related]

  • 9. Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
    Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S.
    Genes (Basel); 2022 Aug 24; 13(9):. PubMed ID: 36140680
    [Abstract] [Full Text] [Related]

  • 10. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
    Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG.
    Am J Med Genet A; 2003 Oct 15; 122A(3):187-92. PubMed ID: 12966518
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 152A(12):3043-50. PubMed ID: 21077202
    [Abstract] [Full Text] [Related]

  • 12. Multiple SLC26A2 mutations occurring in a three-generational family.
    Barreda-Bonis AC, Barraza-García J, Parrón M, Pastor I, Heath KE, González-Casado I.
    Eur J Med Genet; 2018 Jan 15; 61(1):24-28. PubMed ID: 29024831
    [Abstract] [Full Text] [Related]

  • 13. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
    Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S.
    J Hum Genet; 2008 Jan 15; 53(8):764-768. PubMed ID: 18553123
    [Abstract] [Full Text] [Related]

  • 14. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
    Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J.
    J Med Genet; 1999 Aug 15; 36(8):621-4. PubMed ID: 10465113
    [Abstract] [Full Text] [Related]

  • 15. Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
    Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T.
    BMC Musculoskelet Disord; 2010 Jun 03; 11():110. PubMed ID: 20525296
    [Abstract] [Full Text] [Related]

  • 16. Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
    Vatanavicharn N, Lachman RS, Rimoin DL.
    Am J Med Genet A; 2008 Jul 01; 146A(13):1682-6. PubMed ID: 18546327
    [Abstract] [Full Text] [Related]

  • 17. Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
    Zhou T, Wang Y, Zhou H, Liao Z, Gao B, Su D, Zheng S, Xu C, Su P.
    BMC Med Genet; 2018 May 03; 19(1):70. PubMed ID: 29724173
    [Abstract] [Full Text] [Related]

  • 18. SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
    Silveira C, da Costa Silveira K, Lacarrubba-Flores MD, Sakata MT, Carbognani SN, Llerena J, Moreno CA, Cavalcanti DP.
    Mol Syndromol; 2023 Jan 03; 13(6):485-495. PubMed ID: 36660027
    [Abstract] [Full Text] [Related]

  • 19. Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
    Macías-Gómez NM, Mégarbané A, Leal-Ugarte E, Rodríguez-Rojas LX, Barros-Núñez P.
    Am J Med Genet A; 2004 Aug 30; 129A(2):190-2. PubMed ID: 15316973
    [Abstract] [Full Text] [Related]

  • 20. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
    Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES.
    Eur J Hum Genet; 1999 Sep 30; 7(6):664-70. PubMed ID: 10482955
    [Abstract] [Full Text] [Related]

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