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 *

195 related articles for article (PubMed ID: 10465113)

  • 1. 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; 36(8):621-4. PubMed ID: 10465113
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
    Czarny-Ratajczak M; Lohiniva J; Rogala P; Kozlowski K; Perälä M; Carter L; Spector TD; Kolodziej L; Seppänen U; Glazar R; Królewski J; Latos-Bielenska A; Ala-Kokko L
    Am J Hum Genet; 2001 Nov; 69(5):969-80. PubMed ID: 11565064
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
    Karniski LP
    Hum Mol Genet; 2001 Jul; 10(14):1485-90. PubMed ID: 11448940
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia.
    Wang D; Qin J; Zhao C; He X
    J Pediatr Endocrinol Metab; 2014 Jan; 27(1-2):75-80. PubMed ID: 23934641
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
    Rossi A; van der Harten HJ; Beemer FA; Kleijer WJ; Gitzelmann R; Steinmann B; Superti-Furga A
    Hum Genet; 1996 Dec; 98(6):657-61. PubMed ID: 8931695
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
    Karniski LP
    Hum Mol Genet; 2004 Oct; 13(19):2165-71. PubMed ID: 15294877
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
    Superti-Furga A; Rossi A; Steinmann B; Gitzelmann R
    Am J Med Genet; 1996 May; 63(1):144-7. PubMed ID: 8723100
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
    Maeda K; Miyamoto Y; Sawai H; Karniski LP; Nakashima E; Nishimura G; Ikegawa S
    Am J Med Genet A; 2006 Jun; 140(11):1143-7. PubMed ID: 16642506
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
    Cai G; Nakayama M; Hiraki Y; Ozono K
    Am J Med Genet; 1998 Jun; 78(1):58-60. PubMed ID: 9637425
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 11():110. PubMed ID: 20525296
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 21077204
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
    Jakkula E; Mäkitie O; Czarny-Ratajczak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
    Eur J Hum Genet; 2005 Mar; 13(3):292-301. PubMed ID: 15523498
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation.
    Nakashima E; Ikegawa S; Ohashi H; Kimizuka M; Nishimura G
    Am J Med Genet A; 2005 Feb; 133A(1):106-7. PubMed ID: 15633184
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.