Bardelli AM - Search Results

1

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Meloni I, Rubegni P, De Aloe G, Bruttini M, Pianigiani E, Cusano R, Seri M, Mondillo S, Federico A, Bardelli AM, Andreassi L, Fimiani M, Renieri A. Meloni I, et al. Among authors: bardelli am. Hum Mutat. 2001;18(1):85. doi: 10.1002/humu.1157. Hum Mutat. 2001. PMID: 11439001

2

Mitral valve prolapse in healthy relatives of patients with familial Pseudoxanthoma elasticum.

Rubegni P, Mondillo S, De Aloe G, Agricola E, Bardelli AM, Fimiani M. Rubegni P, et al. Among authors: bardelli am. Am J Cardiol. 2000 May 15;85(10):1268-71. doi: 10.1016/s0002-9149(00)00745-1. Am J Cardiol. 2000. PMID: 10802018 No abstract available.

3

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM, Federico A. Battisti C, et al. Among authors: bardelli am. Am J Med Genet. 1998 Jan 6;75(1):35-9. doi: 10.1002/(sici)1096-8628(19980106)75:1<35::aid-ajmg8>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9450854

4

Normal rhodanese activity in leukocytes from Leber patients: enzyme characterization and activity levels.

Pallini R, Martelli P, Bardelli AM, Guazzi GC, Federico A. Pallini R, et al. Among authors: bardelli am. Neurology. 1987 Dec;37(12):1878-80. doi: 10.1212/wnl.37.12.1878. Neurology. 1987. PMID: 3479705

5

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. Malandrini A, et al. Among authors: bardelli am. Clin Genet. 2001 Aug;60(2):151-4. doi: 10.1034/j.1399-0004.2001.600210.x. Clin Genet. 2001. PMID: 11553050

6

Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families.

Dotti MT, Bardelli AM, De Stefano N, Federico A, Malandrini A, Vanni M, Guazzi GC. Dotti MT, et al. Among authors: bardelli am. Ophthalmic Paediatr Genet. 1993 Mar;14(1):5-7. doi: 10.3109/13816819309087616. Ophthalmic Paediatr Genet. 1993. PMID: 8345957

7

Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy.

Federico A, Manneschi L, Meloni M, Alessandrini C, Bardelli AM, Dotti MT, Sabatelli P. Federico A, et al. Among authors: bardelli am. J Inherit Metab Dis. 1988;11 Suppl 2:193-7. doi: 10.1007/BF01804233. J Inherit Metab Dis. 1988. PMID: 2846962 No abstract available.

8

PIK3CA cancer mutations display gender and tissue specificity patterns.

Benvenuti S, Frattini M, Arena S, Zanon C, Cappelletti V, Coradini D, Daidone MG, Pilotti S, Pierotti MA, Bardelli A. Benvenuti S, et al. Hum Mutat. 2008 Feb;29(2):284-8. doi: 10.1002/humu.20648. Hum Mutat. 2008. PMID: 18022911

9

Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes.

Bleeker FE, Lamba S, Rodolfo M, Scarpa A, Leenstra S, Vandertop WP, Bardelli A. Bleeker FE, et al. Hum Mutat. 2009 Feb;30(2):E451-9. doi: 10.1002/humu.20927. Hum Mutat. 2009. PMID: 19058223

10

MET mutations in cancers of unknown primary origin (CUPs).

Stella GM, Benvenuti S, Gramaglia D, Scarpa A, Tomezzoli A, Cassoni P, Senetta R, Venesio T, Pozzi E, Bardelli A, Comoglio PM. Stella GM, et al. Hum Mutat. 2011 Jan;32(1):44-50. doi: 10.1002/humu.21374. Epub 2010 Nov 9. Hum Mutat. 2011. PMID: 20949619 Free article.

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