Zanella A - Search Results

1

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.

Bianchi P, Fermo E, Alfinito F, Vercellati C, Baserga M, Ferraro F, Guzzo I, Rotoli B, Zanella A. Bianchi P, et al. Among authors: zanella a. Br J Haematol. 2003 Sep;122(5):847-51. doi: 10.1046/j.1365-2141.2003.04532.x. Br J Haematol. 2003. PMID: 12930399 Free article.

2

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.

Fermo E, Bianchi P, Chiarelli LR, Cotton F, Vercellati C, Writzl K, Baker K, Hann I, Rodwell R, Valentini G, Zanella A. Fermo E, et al. Among authors: zanella a. Br J Haematol. 2005 Jun;129(6):839-46. doi: 10.1111/j.1365-2141.2005.05520.x. Br J Haematol. 2005. PMID: 15953013 Free article.

3

Red cell pyruvate kinase deficiency: molecular and clinical aspects.

Zanella A, Fermo E, Bianchi P, Valentini G. Zanella A, et al. Br J Haematol. 2005 Jul;130(1):11-25. doi: 10.1111/j.1365-2141.2005.05527.x. Br J Haematol. 2005. PMID: 15982340 Free article. Review.

4

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

Zanella A, Bianchi P, Fermo E, Valentini G. Zanella A, et al. Br J Haematol. 2006 Apr;133(2):113-23. doi: 10.1111/j.1365-2141.2006.05992.x. Br J Haematol. 2006. PMID: 16611302 Free article. Review.

5

Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.

Fermo E, Bianchi P, Vercellati C, Rees DC, Marcello AP, Barcellini W, Zanella A. Fermo E, et al. Among authors: zanella a. Eur J Haematol. 2010 Aug;85(2):170-3. doi: 10.1111/j.1600-0609.2010.01451.x. Epub 2010 Mar 31. Eur J Haematol. 2010. PMID: 20374271

6

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

Bianchi P, Schwarz K, Högel J, Fermo E, Vercellati C, Grosse R, van Wijk R, van Zwieten R, Barcellini W, Zanella A, Heimpel H. Bianchi P, et al. Among authors: zanella a. Br J Haematol. 2016 Nov;175(4):696-704. doi: 10.1111/bjh.14271. Epub 2016 Jul 29. Br J Haematol. 2016. PMID: 27471141 Free article.

7

Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years.

Vercellati C, Zaninoni A, Marcello AP, Fermo E, Fattizzo B, Giannotta JA, Bianchi P, Zanella A, Barcellini W. Vercellati C, et al. Among authors: zanella a. Br J Haematol. 2022 Sep;198(5):912-915. doi: 10.1111/bjh.18106. Epub 2022 Mar 11. Br J Haematol. 2022. PMID: 35277856

8

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia.

Bianchi P, Zappa M, Bredi E, Vercellati C, Pelissero G, Barraco F, Zanella A. Bianchi P, et al. Among authors: zanella a. Br J Haematol. 1999 Apr;105(1):75-9. Br J Haematol. 1999. PMID: 10233365 Free article.

9

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.

Zanella A, Bianchi P. Zanella A, et al. Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):57-81. doi: 10.1053/beha.1999.0057. Baillieres Best Pract Res Clin Haematol. 2000. PMID: 10916678 Review.

10

Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

Zanella A, Bianchi P, Fermo E, Iurlo A, Zappa M, Vercellati C, Boschetti C, Baronciani L, Cotton F. Zanella A, et al. Br J Haematol. 2001 Apr;113(1):43-8. doi: 10.1046/j.1365-2141.2001.02711.x. Br J Haematol. 2001. PMID: 11328279 Free article.

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