Rivolta C - Search Results

1

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Di Gioia SA, Bedoni N, von Scheven-Gête A, Vanoni F, Superti-Furga A, Hofer M, Rivolta C. Di Gioia SA, et al. Among authors: rivolta c. Sci Rep. 2015 May 19;5:10200. doi: 10.1038/srep10200. Sci Rep. 2015. PMID: 25988833 Free PMC article.

2

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

Rio Frio T, Panek S, Iseli C, Di Gioia SA, Kumar A, Gal A, Rivolta C. Rio Frio T, et al. Among authors: rivolta c. Mol Vis. 2009 Dec 8;15:2627-33. Mol Vis. 2009. PMID: 20011630 Free PMC article.

3

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C. Langmann T, et al. Among authors: rivolta c. Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705278 Free PMC article.

4

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C. Di Gioia SA, et al. Among authors: rivolta c. Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1. Hum Mol Genet. 2012. PMID: 22940612

5

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL. Venturini G, et al. Among authors: rivolta c. PLoS One. 2014 Mar 20;9(3):e92479. doi: 10.1371/journal.pone.0092479. eCollection 2014. PLoS One. 2014. PMID: 24651477 Free PMC article.

6

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C. Nishiguchi KM, et al. Among authors: rivolta c. Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Ophthalmology. 2014. PMID: 24697911

7

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Di Gioia SA, Farinelli P, Letteboer SJ, Arsenijevic Y, Sharon D, Roepman R, Rivolta C. Di Gioia SA, et al. Among authors: rivolta c. Hum Mol Genet. 2015 Jun 15;24(12):3359-71. doi: 10.1093/hmg/ddv085. Epub 2015 Mar 5. Hum Mol Genet. 2015. PMID: 25749990

8

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C. Saqib MA, et al. Among authors: rivolta c. Sci Rep. 2015 May 6;5:9965. doi: 10.1038/srep09965. Sci Rep. 2015. PMID: 25943428 Free PMC article.

9

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L. Segarra NG, et al. Among authors: rivolta c. Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19. Am J Med Genet A. 2015. PMID: 26286438

10

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C. Nikopoulos K, et al. Among authors: rivolta c. Sci Rep. 2015 Sep 9;5:13902. doi: 10.1038/srep13902. Sci Rep. 2015. PMID: 26350383 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

232 results

Search Page

Filters