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Results: 1 to 20 of 194

1.

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 1;140(11):1143-7.

PMID:
16642506
[PubMed - indexed for MEDLINE]
2.

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):764-8. doi: 10.1007/s10038-008-0305-z. Epub 2008 Jun 14.

PMID:
18553123
[PubMed - indexed for MEDLINE]
3.
4.

Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

Karniski LP.

Hum Mol Genet. 2004 Oct 1;13(19):2165-71. Epub 2004 Aug 4.

PMID:
15294877
[PubMed - indexed for MEDLINE]
Free Article
5.

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]
6.

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 3;63(1):144-7. Review.

PMID:
8723100
[PubMed - indexed for MEDLINE]
7.

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES.

Am J Hum Genet. 1996 Feb;58(2):255-62.

PMID:
8571951
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
15316973
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
8931695
[PubMed - indexed for MEDLINE]
10.

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. Erratum in: Hum Mutat 2001;18(1):82.

PMID:
11241838
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
12966518
[PubMed - indexed for MEDLINE]
12.

Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.

Rossi A, Bonaventure J, Delezoide AL, Superti-Furga A, Cetta G.

Eur J Biochem. 1997 Sep 15;248(3):741-7.

PMID:
9342225
[PubMed - indexed for MEDLINE]
Free Article
13.

Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans.

Satoh H, Susaki M, Shukunami C, Iyama K, Negoro T, Hiraki Y.

J Biol Chem. 1998 May 15;273(20):12307-15.

PMID:
9575183
[PubMed - indexed for MEDLINE]
Free Article
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;36(8):621-4.

PMID:
10465113
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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. doi: 10.1002/ajmg.a.36057. Epub 2013 Jul 9.

PMID:
23840040
[PubMed - indexed for MEDLINE]
16.

Fetal MR imaging of atelosteogenesis type II (AO-II).

Miller E, Blaser S, Miller S, Keating S, Thompson M, Unger S, Toi A, Berger H, Chong K.

Pediatr Radiol. 2008 Dec;38(12):1345-9. doi: 10.1007/s00247-008-0974-y. Epub 2008 Aug 21.

PMID:
18716767
[PubMed - indexed for MEDLINE]
17.

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.

Forlino A, Piazza R, Tiveron C, Della Torre S, Tatangelo L, Bonafè L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A.

Hum Mol Genet. 2005 Mar 15;14(6):859-71. Epub 2005 Feb 9.

PMID:
15703192
[PubMed - indexed for MEDLINE]
Free Article
18.

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. doi: 10.3346/jkms.2010.25.7.1105. Epub 2010 Jun 16.

PMID:
20592910
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

Rossi A, Bonaventure J, Delezoide AL, Cetta G, Superti-Furga A.

J Biol Chem. 1996 Aug 2;271(31):18456-64.

PMID:
8702490
[PubMed - indexed for MEDLINE]
Free Article
20.

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

Panzer KM, Lachman R, Modaff P, Pauli RM.

Am J Med Genet A. 2008 Nov 15;146A(22):2920-4. doi: 10.1002/ajmg.a.32543.

PMID:
18925670
[PubMed - indexed for MEDLINE]
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