Hästbacka J - Search Results

1

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. Among authors: hastbacka j. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.

2

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.

3

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. Among authors: hastbacka j. 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.

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

Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES. Hästbacka J, et al. Eur J Hum Genet. 1999 Sep;7(6):664-70. doi: 10.1038/sj.ejhg.5200361. Eur J Hum Genet. 1999. PMID: 10482955

6

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. Bonafé L, et al. Among authors: hastbacka j. J Med Genet. 2008 Dec;45(12):827-31. doi: 10.1136/jmg.2007.057158. Epub 2008 Aug 15. J Med Genet. 2008. PMID: 18708426 Free PMC article.

7

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.

Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E. Hästbacka J, et al. Nat Genet. 1992 Nov;2(3):204-11. doi: 10.1038/ng1192-204. Nat Genet. 1992. PMID: 1345170

8

Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?

Remes VM, Hästbacka JR, Poussa MS, Peltonen JI. Remes VM, et al. Eur Spine J. 2002 Aug;11(4):327-31. doi: 10.1007/s00586-002-0413-y. Epub 2002 May 29. Eur Spine J. 2002. PMID: 12193993 Free PMC article.

9

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, et al. Hästbacka J, et al. Cell. 1994 Sep 23;78(6):1073-87. doi: 10.1016/0092-8674(94)90281-x. Cell. 1994. PMID: 7923357

10

SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types.

Haila S, Hästbacka J, Böhling T, Karjalainen-Lindsberg ML, Kere J, Saarialho-Kere U. Haila S, et al. Among authors: hastbacka j. J Histochem Cytochem. 2001 Aug;49(8):973-82. doi: 10.1177/002215540104900805. J Histochem Cytochem. 2001. PMID: 11457925

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