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Results: 12

1.

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

Bovolenta M, Erriquez D, Valli E, Brioschi S, Scotton C, Neri M, Falzarano MS, Gherardi S, Fabris M, Rimessi P, Gualandi F, Perini G, Ferlini A.

PLoS One. 2012;7(9):e45328. doi: 10.1371/journal.pone.0045328. Epub 2012 Sep 21.

2.

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A.

BMC Med Genet. 2012 Aug 16;13:73.

3.

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A.

BMC Genomics. 2008 Nov 28;9:572. doi: 10.1186/1471-2164-9-572.

4.

Molecular basis of familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Caprioli J, Brioschi S, Remuzzi G.

Saudi J Kidney Dis Transpl. 2003 Jul-Sep;14(3):342-50. No abstract available.

5.

Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome.

Monteferrante G, Brioschi S, Caprioli J, Pianetti G, Bettinaglio P, Bresin E, Remuzzi G, Noris M.

Mol Immunol. 2007 Mar;44(7):1704-8. Epub 2006 Sep 26.

PMID:
17000000
6.

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Blood. 2006 Aug 15;108(4):1267-79. Epub 2006 Apr 18.

7.

Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement.

Noris M, Bucchioni S, Galbusera M, Donadelli R, Bresin E, Castelletti F, Caprioli J, Brioschi S, Scheiflinger F, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

J Am Soc Nephrol. 2005 May;16(5):1177-83. Epub 2005 Mar 30.

8.

Familial haemolytic uraemic syndrome and an MCP mutation.

Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Lancet. 2003 Nov 8;362(9395):1542-7.

PMID:
14615110
9.

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP.

Hum Mol Genet. 2003 Dec 15;12(24):3385-95. Epub 2003 Oct 28.

10.

Contrast medium injection optimisation in spiral CT for the diagnosis of pulmonary embolism.

Gattoni F, Tagliaferri B, Scali P, Brioschi S, Boioli F.

Radiol Med. 2003 May-Jun;105(5-6):416-24. English, Italian.

PMID:
12949452
11.

[Thymoma in childhood. Clinical case].

Pacilli P, ViganĂ² P, Cogno M, Aliprandi PL, Brioschi S, Cruciani S, Guarneri A.

G Chir. 2000 Oct;21(10):375-8. Italian.

PMID:
11126734
12.

[Advantages of the use of flow-stab in parenteral nutrition].

Bonvini S, Gomarasca I, Brioschi S, Maione G.

Minerva Chir. 1987 Jun 15;42(11):987-9. Italian. No abstract available.

PMID:
3114670
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