Bembi B - Search Results

1

1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.

Tuteja R, Bembi B, Agosti E, Baralle FE. Tuteja R, et al. Among authors: bembi b. Hum Mol Genet. 1993 Jun;2(6):781-4. doi: 10.1093/hmg/2.6.781. Hum Mol Genet. 1993. PMID: 8102572

2

Enzyme replacement treatment in type 1 and type 3 Gaucher's disease.

Bembi B, Zanatta M, Carrozzi M, Baralle F, Gornati R, Berra B, Agosti E. Bembi B, et al. Lancet. 1994 Dec 17;344(8938):1679-82. doi: 10.1016/s0140-6736(94)90462-6. Lancet. 1994. PMID: 7996964 Clinical Trial.

3

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.

Tuteja R, Tuteja N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle FE. Tuteja R, et al. Among authors: bembi b. Hum Genet. 1994 Sep;94(3):314-5. doi: 10.1007/BF00208292. Hum Genet. 1994. PMID: 8076951 No abstract available.

4

Aminohydroxypropylidene-biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3.

Bembi B, Agosti E, Boehm P, Nassimbeni G, Zanatta M, Vidoni L. Bembi B, et al. Acta Paediatr. 1994 Jan;83(1):122-4. doi: 10.1111/j.1651-2227.1994.tb12968.x. Acta Paediatr. 1994. PMID: 8193463

5

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Dardis A, Zanin I, Zampieri S, Stuani C, Pianta A, Romanello M, Baralle FE, Bembi B, Buratti E. Dardis A, et al. Among authors: bembi b. Nucleic Acids Res. 2014 Jan;42(2):1291-302. doi: 10.1093/nar/gkt987. Epub 2013 Oct 22. Nucleic Acids Res. 2014. PMID: 24150945 Free PMC article.

6

Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells.

Bembi B, Comelli M, Scaggiante B, Pineschi A, Rapelli S, Gornati R, Montorfano G, Berra B, Agosti E, Romeo D. Bembi B, et al. Am J Med Genet. 1992 Nov 1;44(4):527-33. doi: 10.1002/ajmg.1320440430. Am J Med Genet. 1992. PMID: 1442900

7

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG. Miocić S, et al. Among authors: bembi b. Hum Mutat. 2005 Jan;25(1):100. doi: 10.1002/humu.9301. Hum Mutat. 2005. PMID: 15605411

8

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Among authors: bembi b. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

9

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

Sechi A, Deroma L, Dardis A, Ciana G, Bertin N, Concolino D, Linari S, Perria C, Bembi B. Sechi A, et al. Among authors: bembi b. Mol Genet Metab. 2014 Nov;113(3):213-8. doi: 10.1016/j.ymgme.2014.07.022. Epub 2014 Aug 4. Mol Genet Metab. 2014. PMID: 25127542

10

A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R. Seri M, et al. Among authors: bembi b. Clin Genet. 1995 Sep;48(3):123-7. doi: 10.1111/j.1399-0004.1995.tb04070.x. Clin Genet. 1995. PMID: 8556817

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

161 results

Search Page

Filters