Andrea Superti-Furga

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457 publications

... | 1993 | 1992 | 1991 | 1990 | 1989 | 1988 | 1987 | 1986 | 1985 | 1984 | 1983 |
1993
 
Atelosteogenesis Type 2
Bonafe L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 1993. dans Pagon R. A., Adam M. P., Ardinger H. H., Wallace S. E., Amemiya A., Bean L. J. H., Bird T. D., Fong C. T., Mefford H. C., Smith R. J. H., Stephens K. (eds.) GeneReviews(R), NIH.
[serval:BIB_F09BA7AC23CB]
 
Campomelic Dysplasia
Unger S., Scherer G., Superti-Furga A., 1993. dans Pagon R. A., Adam M. P., Ardinger H. H., Wallace S. E., Amemiya A., Bean L. J. H., Bird T. D., Fong C. T., Mefford H. C., Smith R. J. H., Stephens K. (eds.) GeneReviews(R), PAGON R.A..
[serval:BIB_129CA42C72EE]
 
Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin).
Superti-Furga A., Rocchi M., Schäfer B.W., Gitzelmann R., 1993. Genomics, 17 (2) pp. 463-467.
[DOI][WoS][Pmid][serval:BIB_C0DD26D40E59]
 
Contributions to the Molecular Nosology of Collagen Disorders
Superti-Furga Andrea, 1993., Uni Zürich (Habilitationsarbeit).
[serval:BIB_C72CCF808B22]
 
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Raghunath M., Superti-Furga A., Godfrey M., Steinmann B., 1993. Human Genetics, 90 (5) pp. 511-515.
[Pmid][serval:BIB_05F924BD2DCA]
 
Diastrophic Dysplasia
Bonafe L., Mittaz-Crettol L., Ballhausen D., Superti-Furga A., 1993. dans Pagon R. A., Adam M. P., Ardinger H. H., Wallace S. E., Amemiya A., Bean L. J. H., Bird T. D., Fong C. T., Mefford H. C., Smith R. J. H., Stephens K. (eds.) GeneReviews(R), GeneReviews.
[serval:BIB_D8A5F7CD17BB]
 
Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.
Hoppe B., Neuhaus T., Superti-Furga A., Forster I., Leumann E., 1993. Nephron, 65 (3) pp. 460-462.
[WoS][Pmid][serval:BIB_C84F82821A07]
 
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., 1993. European Journal of Pediatrics, 152 (1) pp. 44-50.
[WoS][Pmid][serval:BIB_94B9EB521841]
 
SLC26A2-Related Atelosteogenesis
Superti-Furga A., Unger S., 1993. dans Adam M. P., Mirzaa G. M., Pagon R. A., Wallace S. E., Bean L. J. H., Gripp K. W., Amemiya A. (eds.) GeneReviews(®), University of Washington, Seattle Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved..
[Pmid][serval:BIB_8D22EF16E169]
 
SLC26A2-Related Multiple Epiphyseal Dysplasia
Unger S., Superti-Furga A., 1993. dans Adam M. P., Mirzaa G. M., Pagon R. A., Wallace S. E., Bean L. J. H., Gripp K. W., Amemiya A. (eds.) GeneReviews(®), University of Washington, Seattle Copyright © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved..
[Pmid][serval:BIB_75E72C8F6226]
1992
 
Correction
Superti-Furga A., 1992. International Journal of Microcirculation, Clinical and Experimental, 11 (4) p. 455. Peer-reviewed.
[WoS][serval:BIB_20AEE61DCE3B]
 
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
Superti-Furga A., Raghunath M., Willems P.J., 1992. Journal of Medical Genetics, 29 (12) pp. 875-878.
[Pmid][serval:BIB_E66E5783C3F9]
 
Microangiopathy in Ehlers-Danlos syndrome type IV.
Superti-Furga A., Saesseli B., Steinmann B., Bollinger A., 1992. International Journal of Microcirculation, Clinical and Experimental, 11 (3) pp. 241-247.
[WoS][Pmid][serval:BIB_E4ACF4E23C06]
1991
 
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
Hawkins J.R., Superti-Furga A., Steinmann B., Dalgleish R., 1991. Journal of Biological Chemistry, 266 (33) pp. 22370-22374.
[WoS][Pmid][serval:BIB_2DC782809D24]
 
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., 1991. American Journal of Human Genetics, 48 (3) pp. 511-517.
[Pmid][serval:BIB_0A4F0712FA2E]
 
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., 1991. Journal of Biological Chemistry, 266 (2) pp. 1299-1303.
[WoS][Pmid][serval:BIB_C943312D9315]
 
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., 1991. Journal of Biological Chemistry, 266 (8) pp. 5256-5259.
[Pmid][serval:BIB_7D6FDFAFD2DD]
 
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., 1991. European Journal of Pediatrics, 150 (7) pp. 493-497.
[Pmid][serval:BIB_F421D063630D]
 
Mechanism of action of FK 506 and cyclosporin.
Steinmann B., Superti-Furga A., Bruckner P., 1991. Lancet, 337 (8738) p. 439.
[WoS][Pmid][serval:BIB_235976BAAACC]
 
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 P.H., Steinmann B., Superti-Furga A., 1991. Journal of Biological Chemistry, 266 (8) pp. 5244-5248.
[WoS][Pmid][serval:BIB_E1D05B0DDA56]
 
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 C.D., Superti-Furga A., Prockop D.J., 1991. Biochemical Journal, 279 ( Pt 3) (Part 3) pp. 747-752.
[Pmid][serval:BIB_8DD480C96111]
1990
 
A HaeIII RFLP in COL1A1.
Mackay K., Hawkins J.R., Superti-Furga A., Steinmann B., Dalgleish R., 1990. Nucleic Acids Research, 18 (19) p. 5926.
[WoS][Pmid][serval:BIB_7A73AEF4CEC3]
 
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene.
Superti-Furga A., Steinmann B., Lee B., Ramirez F., Lehner T., Ott J., Gaucher A., Moreau P., Weryha G., 1990. New England Journal of Medicine, 322 (8) pp. 552-553.
[DOI][Pmid][serval:BIB_25F76682B406]
 
Characterization of Large Deletions in the Pro-Alpha-1(III) mRNA from Two Ehlers-Danlos Type IV Patients
Vissing H., Lee B., D'Alessio M., Ramirez F., Byers P., Superti-Furga A., Steinmann B., 1990. Annals of the New York Academy of Sciences, 580 pp. 552-553.
[DOI][WoS][serval:BIB_C1E6E31A6EF2]
 
Heritable disorders of connective tissues
Steinmann B, Superti-Furga A, Royce PM, 1990/01/01. pp. 525--561 dans Inborn Metabolic Diseases, Springer.
[serval:BIB_2EA53232BFD7]
 
Maternal PKU syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase-261 ARG-]GLN mutation.
Superti-Furga A., Steinmann B., Duc G., Gitzelmann R., 1990. p. 291 dans Annual Meeting of the European Society for Pediatric Research, Pediatric Research. Peer-reviewed.
[WoS][serval:BIB_B631B052AD6A]
 
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.
Pendola F., Borrone C., Filocamo M., Lituania M., Steinmann B., Superti-Furga A., 1990. European Journal of Pediatrics, 149 (6) pp. 403-405.
[WoS][Pmid][serval:BIB_49F83687A69C]
1989
 
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., 1989. Journal of Medical Genetics, 26 (6) pp. 358-362.
[WoS][Pmid][serval:BIB_4CB0623528D3]
 
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.
Steinmann B., Superti-Furga A., Joller-Jemelka H.I., Cetta G., Byers P.H., 1989. American Journal of Medical Genetics, 34 (1) pp. 68-71.
[DOI][WoS][Pmid][serval:BIB_5694B401A0AD]
 
Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder?
Superti-Furga A., Steinmann B., 1989. Journal of the American Academy of Dermatology, 21 (2 Pt 1) p. 323.
[WoS][Pmid][serval:BIB_821CD2FCAA77]
 
Low serum procollagen type-III aminopropeptide identifies a subgroup of patients with Ehlers-Danlos syndrome type-IV
Steinmann B., Superti-Furga A., Byers P.H., 1989. pp. A145 dans 20th Clinical Genetics Conference on Heritage Disorders of Connective Tissue and Skeletal Dysplasias, American Journal of Mecical Genetics. Peer-reviewed.
[WoS][serval:BIB_709D9A8A3F06]
 
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.
Superti-Furga A., Steinmann B., Ramirez F., Byers P.H., 1989. Human Genetics, 82 (2) pp. 104-108.
[WoS][Pmid][serval:BIB_7AD2A17928F9]
 
Type III collagen deficiency.
Superti-Furga A., Steinmann B., Byers P.H., 1989. Lancet, 1 (8643) pp. 903-904.
[WoS][Pmid][serval:BIB_C764A8D55677]
1988
 
"Cerebral" lactic acidosis and cerebrospinal fluid pH.
Superti-Furga A., 1988/08. European journal of pediatrics, 147 (6) pp. 667-668. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_545CF69B8BA9]
 
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.
Superti-Furga A., Royce P.M., Pistone F.M., Romano C., Steinmann B., 1988. Annals of the New York Academy of Sciences, 543 pp. 85-92. Peer-reviewed.
[DOI][Pmid][serval:BIB_D620BCFB7AF1]
 
Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrhea.
Hunziker U.A., Superti-Furga A., Zachmann M., Del Pozo E., Shmerling D., Prader A., 1988. Helvetica Paediatrica Acta, 43 (1-2) pp. 103-109.
[WoS][Pmid][serval:BIB_9FC83789DE66]
 
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
Superti-Furga A., Gugler E., Gitzelmann R., Steinmann B., 1988. Journal of Biological Chemistry, 263 (13) pp. 6226-6232.
[WoS][Pmid][serval:BIB_BC05ED4E7272]
 
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule.
Superti-Furga A., Steinmann B., 1988. Biochemical and Biophysical Research Communications, 150 (1) pp. 140-147.
[WoS][Pmid][serval:BIB_9115B61F8316]
 
Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism.
Steinmann B., Superti-Furga A., Royce P.M., 1988. Annals of the New York Academy of Sciences, 543 pp. 47-61. Peer-reviewed.
[DOI][Pmid][serval:BIB_B274B0881527]
 
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVB.
Royce P.M., Superti-Furga A., Rao V.H., Steinmann B., 1988. Annals of the New York Academy of Sciences, 543 pp. 83-84. Peer-reviewed.
[DOI][Pmid][serval:BIB_0CEAA6B12A8D]
 
Structure, function and malfunction of components of cartilage and bone
Steinmann B., Royce P.M., Superti-Furga A., Gitzelmann R., 1988. p. 285 dans 25th Congress of the European Society of Pediatric Radiology, Pediatric Radiology. Peer-reviewed.
[WoS][serval:BIB_4C6758D7CC9B]
1987
 
A deletion in one pro-alpha(III) collagen gene in ehlers-danlos syndrome type-IV
Superti-Furga A., Gitzelmann R., Steinmann B., 1987. p. 238 dans Annual Meeting of the European Society for Paediatric Research, Pediatric Research. Peer-reviewed.
[WoS][serval:BIB_51629BA7DD18]
 
Congenital dopamine beta-hydroxylase deficiency.
Superti-Furga A., Royce P.M., Steinmann B., 1987. Lancet, 1 (8534) p. 693.
[WoS][Pmid][serval:BIB_FF417EBD7A35]
 
Dominant Ehlers-Danlos syndrome type IV caused by a shortened mRNA type III collagen
Superti-Furga A., Gitzelmann R., Steinmann B., 1987. p. 636 dans Annual Meeting of the Clinical Genetics Society, Journal of Medical Genetics. Peer-reviewed.
[WoS][serval:BIB_F6C2B8873EC1]
 
Ehlers-Danlos syndrome Type-IV - an often unrecognized genetic disorder of connective-tissue presenting with bleeding tendency
Superti-Furga A., Steinmann B., Gitzelmann R., Gugler E., 1987. pp. 88-89 dans Assemblée Annuelle de la Société Suisse de Pédiatrie, Helvetica Paediatrica Acta.
[WoS][serval:BIB_648480209BB3]
 
Long-Term Study of a Patient with Alacrimia, Achalasia and Adrenal Insufficiency
Garibaldi L.R., DiRocco M., Superti-Furga A., Caprino D., 1987. Rivista Italiana di Pediatria = Italian Journal of Pediatrics, 13 (1) pp. 74-76.
[WoS][serval:BIB_0FD7B100EA50]
1986
 
A structural defect of type-III collagen causing Ehlers-Danlos syndrome type-IV
Superti-Furga A., Royce P.M., Gugler E., Gitzelmann R., Steinmann B., 1986. p. 1043 dans Annual Meeting of the European Society for Pediatric Research, Pediatric Research. Peer-reviewed.
[WoS][serval:BIB_C2221650AC06]
 
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.
Garibaldi L., Superti-Furga A., Borrone C., 1986. Journal of Pediatrics, 109 (6) pp. 1074-1075.
[WoS][Pmid][serval:BIB_B9D4034C8B21]
 
Osteoporosis-pseudoglioma or osteogenesis imperfecta?
Superti-Furga A., Steinmann B., Perfumo F., 1986. Clinical Genetics, 29 (2) pp. 184-185.
[WoS][Pmid][serval:BIB_BC8E0794AD6F]
 
Restriction Fragment Length (RFL) Analysis of the Gene for Cartilege-Specific Type-II Collagen in Kniest Disease
Superti-Furga A., Vuorio E., Briner J., Spycher M.A., Gitzelmann R., Steinmann B., 1986. p. 523 dans 22nd Workshop for Pediatric Research, European Journal of Pediatrics. Peer-reviewed.
[WoS][serval:BIB_293BC38F7017]
 
Variable Methylation Patterns of the Human Type-II Collagen Gene
Vuorio E., Superti-Furga A., Steinmann B., 1986. p. 120 dans 15th UCLA Symposia on Molecular and Cellular Biology, Journal of Cellular Biochemistry. Peer-reviewed.
[WoS][serval:BIB_8C6AFD096CCD]
1985
 
Incidence of genetic-disorders in the etiopathogenesis of mental-retardation in childhood
Dirocco M., Oddino N., Caprino D., Superti-Furga A., Gatti R., Borrone C., 1985. p. 723 dans 44° Congresso Nazionale della Società Italiana di Pediatria, Rivista Italiana di Pediatria = Italian Journal of Pediatrics.
[WoS][serval:BIB_43B91734D6DC]
1984
 
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
Di Rocco M., Superti-Furga A., Durand P., Cerone R., Romano C., Bachmann C., Baumgartner R., 1984. Journal of Inherited Metabolic Disease, 7 (Suppl. 2) pp. 119-120.
[WoS][Pmid][serval:BIB_4629887C6436]
 
Phenotypic variability in biotinidase deficiency.
DIROCCO M, SUPERTIFURGA A, CAPRINO D, ODDINO N, 1984. Journal of Pediatrics, 104 (6) pp. 964-966.
[WoS][Pmid][serval:BIB_A0EBCE6A0AD3]
 
Youngs Syndrome
Superti-Furga A., 1984. New England Journal of Medicine, 310 (25) p. 1670. Peer-reviewed.
[WoS][serval:BIB_29248DEC2B77]
1983
 
Increased lewis-like substances in saliva of patients affected by cystic-fibrosis
Durand P, Franchini E, Gargani GF, Garibaldi I, Superti-Furga A, 1983. Rivista Italiana di Pediatria-Italian Journal of Pediatrics, 9 (3) pp. 300-302.
[WoS][serval:BIB_650B3B1A5902]
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