Superti-Furga A - Search Results

1

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

Superti-Furga A, Schoenle E, Tuchschmid P, Caduff R, Sabato V, DeMattia D, Gitzelmann R, Steinmann B. Superti-Furga A, et al. Eur J Pediatr. 1993 Jan;152(1):44-50. doi: 10.1007/BF02072515. Eur J Pediatr. 1993. PMID: 7680315

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

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F. Lee B, et al. J Biol Chem. 1991 Mar 15;266(8):5256-9. J Biol Chem. 1991. PMID: 1672129 Free article.

4

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.

5

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

6

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.

7

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.

8

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.

9

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.

10

Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Vissing H, D'Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, Superti-Furga A. Vissing H, et al. J Biol Chem. 1991 Mar 15;266(8):5244-8. J Biol Chem. 1991. PMID: 2002056 Free article.

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