Pasquali-Ronchetti I - Search Results

1

Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients.

Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O. Hamlin N, et al. Br J Haematol. 2003 Sep;122(5):852-4. doi: 10.1046/j.1365-2141.2003.04484.x. Br J Haematol. 2003. PMID: 12930400 Free article.

2

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Le Saux O, et al. Nat Genet. 2000 Jun;25(2):223-7. doi: 10.1038/76102. Nat Genet. 2000. PMID: 10835642

3

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. Le Saux O, et al. Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31. Am J Hum Genet. 2001. PMID: 11536079 Free PMC article.

4

Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia.

Baccarani-Contri M, Bacchelli B, Boraldi F, Quaglino D, Taparelli F, Carnevali E, Francomano MA, Seidenari S, Bettoli V, De Sanctis V, Pasquali-Ronchetti I. Baccarani-Contri M, et al. J Am Acad Dermatol. 2001 Jan;44(1):33-9. doi: 10.1067/mjd.2001.110045. J Am Acad Dermatol. 2001. PMID: 11148474

5

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Le Saux O, et al. Genomics. 1999 Nov 15;62(1):1-10. doi: 10.1006/geno.1999.5925. Genomics. 1999. PMID: 10585762

6

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Costrop LM, et al. Among authors: pasquali ronchetti i. J Hum Genet. 2010 Feb;55(2):112-7. doi: 10.1038/jhg.2009.132. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075945 Free article.

7

Cardiovascular involvement in thalassaemic patients with pseudoxanthoma elasticum-like skin lesions: a long-term follow-up study.

Cianciulli P, Sorrentino F, Maffei L, Amadori S, Cappabianca MP, Foglietta E, Carnevali E, Pasquali-Ronchetti I. Cianciulli P, et al. Eur J Clin Invest. 2002 Sep;32(9):700-6. doi: 10.1046/j.1365-2362.2002.01032.x. Eur J Clin Invest. 2002. PMID: 12486871

8

Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients.

Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D, Bacchelli B, Pasquali Ronchetti I. Boraldi F, et al. Matrix Biol. 2003 Nov;22(6):491-500. doi: 10.1016/j.matbio.2003.09.001. Matrix Biol. 2003. PMID: 14667841

9

Hyaluronan-phospholipid interactions.

Pasquali-Ronchetti I, Quaglino D, Mori G, Bacchelli B, Ghosh P. Pasquali-Ronchetti I, et al. J Struct Biol. 1997 Oct;120(1):1-10. doi: 10.1006/jsbi.1997.3908. J Struct Biol. 1997. PMID: 9356287

10

Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients.

Baccarani-Contri M, Vincenzi D, Cicchetti F, Mori G, Pasquali-Ronchetti I. Baccarani-Contri M, et al. Eur J Histochem. 1994;38(2):111-23. Eur J Histochem. 1994. PMID: 7524808

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