Brunelli T - Search Results

1

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.

Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. Pepe G, et al. Among authors: brunelli t. Neuromuscul Disord. 1999 Jun;9(4):264-71. doi: 10.1016/s0960-8966(99)00014-0. Neuromuscul Disord. 1999. PMID: 10399756

2

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.

Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML. Pepe G, et al. Among authors: brunelli t. Biochem Biophys Res Commun. 1999 May 19;258(3):802-7. doi: 10.1006/bbrc.1999.0680. Biochem Biophys Res Commun. 1999. PMID: 10329467

3

World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.

Pepe G, Vanegas OC, Rickards O, Giusti B, Comeglio P, Brunelli T, Marcucci R, Prisco D, Gensini GF, Abbate R. Pepe G, et al. Among authors: brunelli t. Hum Genet. 1999 Feb;104(2):126-9. doi: 10.1007/s004390050924. Hum Genet. 1999. PMID: 10190322

4

Factor II 20210 G-->A polymorphism associated to factor V Leiden: a report of two thrombophilic families.

Prisco D, Gori AM, Pepe G, Marcucci R, Brunelli T, Giusti B, Gensini GF, Abbate R. Prisco D, et al. Among authors: brunelli t. Thromb Res. 1998 Mar 1;89(5):249-52. doi: 10.1016/s0049-3848(98)00013-9. Thromb Res. 1998. PMID: 9645919 No abstract available.

5

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. Pepe G, et al. Among authors: brunelli t. Clin Genet. 2001 Jun;59(6):444-50. doi: 10.1034/j.1399-0004.2001.590610.x. Clin Genet. 2001. PMID: 11453977 Free article.

6

Different distribution of the double mutant "T833C/68 bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations.

Giusti B, Comeglio P, Attanasio M, Gori AM, Brunelli T, Prisco D, Pepe G, Gensini GF, Abbate R. Giusti B, et al. Among authors: brunelli t. Thromb Haemost. 1997 Oct;78(4):1293. Thromb Haemost. 1997. PMID: 9365000 No abstract available.

7

Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.

Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. Giusti B, et al. Among authors: brunelli t. Thromb Res. 1999 May 15;94(4):249-54. doi: 10.1016/s0049-3848(99)00005-5. Thromb Res. 1999. PMID: 10336241

8

The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease.

Brunelli T, Bagnoli S, Giusti B, Nacmias B, Pepe G, Sorbi S, Abbate R. Brunelli T, et al. Neurosci Lett. 2001 Nov 23;315(1-2):103-5. doi: 10.1016/s0304-3940(01)02316-3. Neurosci Lett. 2001. PMID: 11711225

9

[Marfan's syndrome. Clinical and molecular characterization of 51 Italian patients].

Giurlani L, Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Evangelisti L, Brunelli T, Lucarini L, Abbate R. Giurlani L, et al. Among authors: brunelli t. Minerva Cardioangiol. 1999 Dec;47(12):544. Minerva Cardioangiol. 1999. PMID: 10670195 Italian. No abstract available.

10

Cytokine gene expression in human LPS- and IFNgamma-stimulated mononuclear cells is inhibited by heparin.

Attanasio M, Gori AM, Giusti B, Pepe G, Comeglio P, Brunelli T, Prisco D, Abbate R, Gensini GF, Neri Serneri GG. Attanasio M, et al. Among authors: brunelli t. Thromb Haemost. 1998 May;79(5):959-62. Thromb Haemost. 1998. PMID: 9609229

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