Banfi S - Search Results

1

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A. Neri M, et al. Among authors: banfi s. BMC Med Genet. 2012 Mar 28;13:20. doi: 10.1186/1471-2350-13-20. BMC Med Genet. 2012. PMID: 22455600 Free PMC article.

2

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S, Ciccodicola A. Conte I, et al. Among authors: banfi s. Gene. 2002 Sep 4;297(1-2):33-8. doi: 10.1016/s0378-1119(02)00872-7. Gene. 2002. PMID: 12384283

3

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.

Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A, Banfi S. Conte I, et al. Among authors: banfi s. Eur J Hum Genet. 2003 Feb;11(2):155-62. doi: 10.1038/sj.ejhg.5200942. Eur J Hum Genet. 2003. PMID: 12634863

4

Natural antisense transcripts associated with genes involved in eye development.

Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, Szego MJ, McInnes RR, Auricchio A, Banfi S. Alfano G, et al. Among authors: banfi s. Hum Mol Genet. 2005 Apr 1;14(7):913-23. doi: 10.1093/hmg/ddi084. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703187

5

Identification and expression analysis of novel Jakmip1 transcripts.

Costa V, Conte I, Ziviello C, Casamassimi A, Alfano G, Banfi S, Ciccodicola A. Costa V, et al. Among authors: banfi s. Gene. 2007 Nov 1;402(1-2):1-8. doi: 10.1016/j.gene.2007.07.001. Epub 2007 Jul 14. Gene. 2007. PMID: 17761393

6

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements.

Licastro D, Gennarino VA, Petrera F, Sanges R, Banfi S, Stupka E. Licastro D, et al. Among authors: banfi s. BMC Genomics. 2010 Mar 4;11:151. doi: 10.1186/1471-2164-11-151. BMC Genomics. 2010. PMID: 20202189 Free PMC article.

7

Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.

Alfano G, Conte I, Caramico T, Avellino R, Arnò B, Pizzo MT, Tanimoto N, Beck SC, Huber G, Dollé P, Seeliger MW, Banfi S. Alfano G, et al. Among authors: banfi s. Development. 2011 Jan;138(2):261-71. doi: 10.1242/dev.051037. Epub 2010 Dec 9. Development. 2011. PMID: 21148184

8

The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina.

Meola N, Pizzo M, Alfano G, Surace EM, Banfi S. Meola N, et al. Among authors: banfi s. RNA. 2012 Jan;18(1):111-23. doi: 10.1261/rna.029454.111. Epub 2011 Nov 29. RNA. 2012. PMID: 22128341 Free PMC article.

9

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.

10

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.

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

265 results

Search Page

Filters