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Journal Abstract Search

193 related items for PubMed ID: 29724173

  • 1. 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
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  • 2. 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 03; 62(11):103573. PubMed ID: 30423444
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  • 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 03; 161A(8):2088-94. PubMed ID: 23840040
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  • 7. 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
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  • 8. 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
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  • 10. 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 15; 87(3):273-8. PubMed ID: 24598000
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  • 12. 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
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  • 13. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
    Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH.
    Am J Med Genet A; 2017 Sep 03; 173(9):2415-2421. PubMed ID: 28742282
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  • 15. [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
    Li S, Sheng Y, Wang X, Wang Y, Zhang Y, Wu C, Jiang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul 10; 41(7):807-811. PubMed ID: 38946362
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  • 16. A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
    Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Wu Z, Wu N.
    BMC Med Genet; 2020 May 27; 21(1):115. PubMed ID: 32460719
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  • 17. A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
    Ho TT, Tran LH, Hoang LT, Doan PKT, Nguyen TT, Nguyen TH, Tran HT, Hoang H, Chu HH, Luong ALT.
    BMC Musculoskelet Disord; 2020 Apr 07; 21(1):216. PubMed ID: 32264862
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  • 18. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
    Dasa V, Eastwood JRB, Podgorski M, Park H, Blackstock C, Antoshchenko T, Rogala P, Bieganski T, Jazwinski SM, Czarny-Ratajczak M.
    Am J Med Genet A; 2019 Apr 07; 179(4):534-541. PubMed ID: 30740902
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  • 19. 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 Apr 07; 53(8):764-768. PubMed ID: 18553123
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  • 20. 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 07; 152A(12):3036-42. PubMed ID: 21077204
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