These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 30423444)

  • 1. 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; 62(11):103573. PubMed ID: 30423444
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 161A(8):2088-94. PubMed ID: 23840040
    [TBL] [Abstract][Full Text] [Related]  

  • 3.
    Härkönen H; Loid P; Mäkitie O
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34064542
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 13(9):. PubMed ID: 36140680
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 122A(3):187-92. PubMed ID: 12966518
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 19(1):70. PubMed ID: 29724173
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 21155763
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 25(7):1105-8. PubMed ID: 20592910
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 21077202
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
    Biji IK; Yadav S; Kulshrestha S; Saxena R; Kohli S; Verma IC; Kumar B; Puri RD
    Eur J Med Genet; 2022 Oct; 65(10):104595. PubMed ID: 36007841
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 129A(2):190-2. PubMed ID: 15316973
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
    Gatticchi L; Vešelényiová D; Miertus J; Enrico Maltese P; Manara E; Costantini A; Benedetti S; Ďurovčíková D; Krajcovic J; Bertelli M
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1630. PubMed ID: 33724725
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 45(12):827-31. PubMed ID: 18708426
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene.
    Syvänen J; Helenius I; Hero M; Mäkitie O; Ignatius J
    Am J Med Genet A; 2013 Jun; 161A(6):1491-4. PubMed ID: 23613459
    [No Abstract]   [Full Text] [Related]  

  • 16. Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
    Li S; Sheng Y; Wang X; Wang Q; Wang Y; Zhang Y; Wu C; Jiang X
    Orphanet J Rare Dis; 2024 Jul; 19(1):245. PubMed ID: 38956600
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 53(8):764-768. PubMed ID: 18553123
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 146A(13):1682-6. PubMed ID: 18546327
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 17(3):159-71. PubMed ID: 11241838
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 61(1):24-28. PubMed ID: 29024831
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.