Superti-Furga A - 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. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.

2

Microangiopathy in Ehlers-Danlos syndrome type IV.

Superti-Furga A, Saesseli B, Steinmann B, Bollinger A. Superti-Furga A, et al. Int J Microcirc Clin Exp. 1992 Aug;11(3):241-7. Int J Microcirc Clin Exp. 1992. PMID: 1506129

3

Mechanism of action of FK 506 and cyclosporin.

Steinmann B, Superti-Furga A, Bruckner P. Steinmann B, et al. Lancet. 1991 Feb 16;337(8738):439. doi: 10.1016/0140-6736(91)91225-j. Lancet. 1991. PMID: 1704088 No abstract available.

4

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.

Superti-Furga A, Steinmann B, Duc G, Gitzelmann R. Superti-Furga A, et al. Eur J Pediatr. 1991 May;150(7):493-7. doi: 10.1007/BF01958431. Eur J Pediatr. 1991. PMID: 1915502

5

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

Hawkins JR, Superti-Furga A, Steinmann B, Dalgleish R. Hawkins JR, et al. J Biol Chem. 1991 Nov 25;266(33):22370-4. J Biol Chem. 1991. PMID: 1939261 Free article.

6

Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.

Steinmann B, Westerhausen A, Constantinou CD, Superti-Furga A, Prockop DJ. Steinmann B, et al. Biochem J. 1991 Nov 1;279 ( Pt 3)(Pt 3):747-52. doi: 10.1042/bj2790747. Biochem J. 1991. PMID: 1953667 Free PMC article.

7

Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.

Steinmann B, Bruckner P, Superti-Furga A. Steinmann B, et al. J Biol Chem. 1991 Jan 15;266(2):1299-303. J Biol Chem. 1991. PMID: 1985948 Free article.

8

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

Lee B, D'Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A. Lee B, et al. Am J Hum Genet. 1991 Mar;48(3):511-7. Am J Hum Genet. 1991. PMID: 1998337 Free PMC article.

9

Type III collagen deficiency.

Superti-Furga A, Steinmann B, Byers PH. Superti-Furga A, et al. Lancet. 1989 Apr 22;1(8643):903-4. doi: 10.1016/s0140-6736(89)92899-7. Lancet. 1989. PMID: 2564982 No abstract available.

10

Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

Superti-Furga A, Pistone F, Romano C, Steinmann B. Superti-Furga A, et al. J Med Genet. 1989 Jun;26(6):358-62. doi: 10.1136/jmg.26.6.358. J Med Genet. 1989. PMID: 2567784 Free PMC article.

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