Superti-Furga A - Search Results

1

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. Hästbacka J, et al. Am J Hum Genet. 1996 Feb;58(2):255-62. Am J Hum Genet. 1996. PMID: 8571951 Free PMC article.

2

A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.

Superti-Furga A. Superti-Furga A. Am J Hum Genet. 1994 Dec;55(6):1137-45. Am J Hum Genet. 1994. PMID: 7977372 Free PMC article.

3

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.

4

Sulfate transport in chondrodysplasia.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Ann N Y Acad Sci. 1996 Jun 8;785:131-6. doi: 10.1111/j.1749-6632.1996.tb56251.x. Ann N Y Acad Sci. 1996. PMID: 8702119 Review. No abstract available.

5

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Superti-Furga A, Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Ann N Y Acad Sci. 1996 Jun 8;785:195-201. doi: 10.1111/j.1749-6632.1996.tb56259.x. Ann N Y Acad Sci. 1996. PMID: 8702127 Review. No abstract available.

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. Superti-Furga A, et al. Am J Med Genet. 1996 May 3;63(1):144-7. doi: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8723100 Review.

7

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. Rossi A, et al. Hum Genet. 1996 Dec;98(6):657-61. doi: 10.1007/s004390050279. Hum Genet. 1996. PMID: 8931695

8

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.

Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. Faiyaz ul Haque M, et al. Nat Genet. 1998 Oct;20(2):157-62. doi: 10.1038/2458. Nat Genet. 1998. PMID: 9771708

9

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.

Rossi A, Kaitila I, Wilcox WR, Rimoin DL, Steinmann B, Cetta G, Superti-Furga A. Rossi A, et al. Matrix Biol. 1998 Oct;17(5):361-9. doi: 10.1016/s0945-053x(98)90088-9. Matrix Biol. 1998. PMID: 9822202

10

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. Superti-Furga A, et al. J Med Genet. 1999 Aug;36(8):621-4. J Med Genet. 1999. PMID: 10465113 Free PMC article.

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