PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
Malandrini, A, Mari, F, Palmeri, S, Gambelli, S, Berti, G, Bruttini, M, Bardelli, AM, Williamson, K, Van Heyningen, V, Renieri, A
Published in Clinical genetics (01.08.2001)
Published in Clinical genetics (01.08.2001)
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MRI of Wolfram syndrome (DIDMOAD)
GALLUZZI, P, FILOSOMI, G, VALLONE, I. M, BARDELLI, A. M, VENTURI, C
Published in Neuroradiology (01.10.1999)
Published in Neuroradiology (01.10.1999)
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Journal Article
Coats disease: smaller volume of the affected globe
Galluzzi, P, Venturi, C, Cerase, A, Vallone, I M, Bracco, S, Bardelli, A M, Hadjistilianou, T, Gennari, P, Monti, L, Filosomi, G
Published in Radiology (01.10.2001)
Published in Radiology (01.10.2001)
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Journal Article
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
Meloni, Ilaria, Rubegni, Pietro, De Aloe, Giovambattista, Bruttini, Mirella, Pianigiani, Elisa, Cusano, Roberto, Seri, Marco, Mondillo, Sergio, Federico, Antonio, Bardelli, Anna Maria, Andreassi, Lucio, Fimiani, Michele, Renieri, Alessandra
Published in Human mutation (01.07.2001)
Published in Human mutation (01.07.2001)
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Journal Article
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts
Battisti, C, Dotti, M T, Malandrini, A, Pezzella, F, Bardelli, A M, Federico, A
Published in American journal of medical genetics (06.01.1998)
Published in American journal of medical genetics (06.01.1998)
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Journal Article
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy
Federico, A, Manneschi, L, Meloni, M, Alessandrini, C, Bardelli, A M, Dotti, M T, Sabatelli, P
Published in Journal of inherited metabolic disease (01.06.1988)
Published in Journal of inherited metabolic disease (01.06.1988)
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Journal Article
Normal rhodanese activity in leukocytes from Leber patients: enzyme characterization and activity levels
Pallini, R, Martelli, P, Bardelli, A M, Guazzi, G C, Federico, A
Published in Neurology (01.12.1987)
Published in Neurology (01.12.1987)
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Journal Article
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study
Dotti, M T, Rossi, A, Rizzuto, N, Hayek, G, Bardelli, N, Bardelli, A M, Federico, A
Published in European neurology (01.01.1985)
Published in European neurology (01.01.1985)
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Journal Article
Mitral valve prolapse in healthy relatives of patients with familial pseudoxanthoma elasticum
Rubegni, Pietro, Mondillo, Sergio, De Aloe, Giovambattista, Agricola, Eustachio, Bardelli, Anna Maria, Fimiani, Michele
Published in The American journal of cardiology (15.05.2000)
Published in The American journal of cardiology (15.05.2000)
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Journal Article
Etiology of congenital glaucoma. Genetic and extragenetic factors
Bardelli, A M, Hadjistilianou, T, Frezzotti, R
Published in Ophthalmic paediatrics and genetics (01.01.1985)
Published in Ophthalmic paediatrics and genetics (01.01.1985)
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Journal Article
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome
Bardelli, A M, Lasorella, G, Barberi, L, Vanni, M
Published in Ophthalmic paediatrics and genetics (01.01.1985)
Published in Ophthalmic paediatrics and genetics (01.01.1985)
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Journal Article
Combined treatment modalities of orbital rhabdomyosarcoma in children
Fois, A, Bardelli, A M, Frezzotti, R, Acquaviva, A, Bernardini, C, Hadjistilianou, T
Published in European journal of pediatrics (01.02.1986)
Published in European journal of pediatrics (01.02.1986)
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Journal Article
Aicardi's syndrome
Bardelli, A M, Hadjistilianou, T, Barberi, L
Published in Ophthalmic paediatrics and genetics (01.01.1985)
Published in Ophthalmic paediatrics and genetics (01.01.1985)
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Journal Article
Familial tyrosinaemia with eye and skin lesions. Presentation of two cases
Bardelli, A M, Borgogni, P, Farnetani, M A, Fois, A, Frezzotti, R, Mattei, R, Molinelli, M, Sargentini, I
Published in Ophthalmologica (Basel) (1977)
Published in Ophthalmologica (Basel) (1977)
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