Bardelli T - Search Results

1

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, Feriozzi S, Gabrielli O, Barone R, Pistone G, Spisni C, Ricci R, Zammarchi E. Morrone A, et al. Among authors: bardelli t. J Med Genet. 2003 Aug;40(8):e103. doi: 10.1136/jmg.40.8.e103. J Med Genet. 2003. PMID: 12920095 Free PMC article. No abstract available.

2

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. Morrone A, et al. Among authors: bardelli t. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10737981

3

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.

Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E. Giorgi M, et al. Among authors: bardelli t. Hum Mutat. 2000 Apr;15(4):380-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU12>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10737985

4

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Caciotti A, Bardelli T, Cunningham J, D'Azzo A, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: bardelli t. Hum Genet. 2003 Jul;113(1):44-50. doi: 10.1007/s00439-003-0930-8. Epub 2003 Mar 19. Hum Genet. 2003. PMID: 12644936

5

Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.

Bardelli T, Donati MA, Gasperini S, Ciani F, Belli F, Blau N, Morrone A, Zammarchi E. Bardelli T, et al. Mol Genet Metab. 2002 Nov;77(3):260-6. doi: 10.1016/s1096-7192(02)00166-x. Mol Genet Metab. 2002. PMID: 12409276

6

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.

Malvagia S, Morrone A, Caciotti A, Bardelli T, d'Azzo A, Ancora G, Zammarchi E, Donati MA. Malvagia S, et al. Among authors: bardelli t. Mol Genet Metab. 2004 May;82(1):48-55. doi: 10.1016/j.ymgme.2004.02.007. Mol Genet Metab. 2004. PMID: 15110321

7

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.

Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: bardelli t. Hum Mutat. 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. Hum Mutat. 2005. PMID: 15714521 Free article.

8

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Caciotti A, Donati MA, Bardelli T, d'Azzo A, Massai G, Luciani L, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: bardelli t. Am J Pathol. 2005 Dec;167(6):1689-98. doi: 10.1016/S0002-9440(10)61251-5. Am J Pathol. 2005. PMID: 16314480 Free PMC article.

9

[Two cases of solitary median maxillary central incisor syndrome].

Catania P, Conti C, Poggi GM, Bardelli T, Lasagni D, De Martino M. Catania P, et al. Among authors: bardelli t. Minerva Pediatr. 2010 Feb;62(1):113-8. Minerva Pediatr. 2010. PMID: 20212404 Italian.

10

Bacterial Community of Grana Padano PDO Cheese and Generical Hard Cheeses: DNA Metabarcoding and DNA Metafingerprinting Analysis to Assess Similarities and Differences.

Zago M, Rossetti L, Bardelli T, Carminati D, Nazzicari N, Giraffa G. Zago M, et al. Among authors: bardelli t. Foods. 2021 Aug 7;10(8):1826. doi: 10.3390/foods10081826. Foods. 2021. PMID: 34441603 Free PMC article.

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