Bembi B - Search Results

1

Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Dardis A, Pianta A, Zampieri S, Zanin I, Bertoli M, Cazzagon M, Bregant E, Damante G, Bembi B, Ciana G. Dardis A, et al. Among authors: bembi b. Clin Genet. 2019 Feb;95(2):336-338. doi: 10.1111/cge.13464. Epub 2018 Nov 18. Clin Genet. 2019. PMID: 30450550 No abstract available.

2

Infantile sialic acid storage disease: biochemical studies.

Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B. Berra B, et al. Among authors: bembi b. Am J Med Genet. 1995 Jul 31;58(1):24-31. doi: 10.1002/ajmg.1320580107. Am J Med Genet. 1995. PMID: 7573152

3

Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities.

Cerneca F, Andolina M, Simeone R, Boscolo R, Ciana G, Bembi B. Cerneca F, et al. Among authors: bembi b. Clin Pediatr (Phila). 1997 Mar;36(3):141-6. doi: 10.1177/000992289703600304. Clin Pediatr (Phila). 1997. PMID: 9078415

4

Bone marker alterations in patients with type 1 Gaucher disease.

Ciana G, Martini C, Leopaldi A, Tamaro G, Katouzian F, Ronfani L, Bembi B. Ciana G, et al. Among authors: bembi b. Calcif Tissue Int. 2003 Mar;72(3):185-9. doi: 10.1007/s00223-001-2072-0. Epub 2003 Jan 15. Calcif Tissue Int. 2003. PMID: 12522660

5

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

Pittis MG, Montalvo AL, Miocic S, Martini C, Deganuto M, Candusso M, Ciana G, Bembi B. Pittis MG, et al. Among authors: bembi b. Am J Med Genet A. 2003 Sep 1;121A(3):225-30. doi: 10.1002/ajmg.a.20164. Am J Med Genet A. 2003. PMID: 12923862

6

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

Montalvo AL, Cariati R, Deganuto M, Guerci V, Garcia R, Ciana G, Bembi B, Pittis MG. Montalvo AL, et al. Among authors: bembi b. Mol Genet Metab. 2004 Mar;81(3):203-8. doi: 10.1016/j.ymgme.2003.11.011. Mol Genet Metab. 2004. PMID: 14972326

7

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B. Pittis MG, et al. Among authors: bembi b. Hum Mutat. 2004 Aug;24(2):186-7. doi: 10.1002/humu.9263. Hum Mutat. 2004. PMID: 15241805

8

Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.

Dominissini S, Cariati R, Nevyjel M, Guerci V, Ciana G, Bembi B, Pittis MG. Dominissini S, et al. Among authors: bembi b. Hum Hered. 2004;57(3):138-41. doi: 10.1159/000079244. Hum Hered. 2004. PMID: 15297807

9

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG. Dardis A, et al. Among authors: bembi b. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9353. Hum Mutat. 2005. PMID: 16010684

10

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG. Montalvo AL, et al. Among authors: bembi b. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9363. Hum Mutat. 2005. PMID: 16088929

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