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Items: 1 to 20 of 156

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
3.
4.

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
5.

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
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 15;122A(3):187-92.

PMID:
12966518
7.

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
8.
9.

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
11.

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.

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14.

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
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17.

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
18.

In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.

Rossi A, Cetta G, Piazza R, Bonaventure J, Steinmann B, Supereti-Furga A.

Pediatr Pathol Mol Med. 2003 Jul-Aug;22(4):311-21.

PMID:
14692227
19.

Atelosteogenesis type 2.

Newbury-Ecob R.

J Med Genet. 1998 Jan;35(1):49-53. Review.

20.

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 16;78(1):58-60.

PMID:
9637425

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