Primignani P - Search Results

1

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

Soldà G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S. Soldà G, et al. Among authors: primignani p. Hum Mol Genet. 2012 Feb 1;21(3):577-85. doi: 10.1093/hmg/ddr493. Epub 2011 Oct 28. Hum Mol Genet. 2012. PMID: 22038834 Free PMC article.

2

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Robusto M, Fang M, Asselta R, Castorina P, Previtali SC, Caccia S, Benzoni E, De Cristofaro R, Yu C, Cesarani A, Liu X, Li W, Primignani P, Ambrosetti U, Xu X, Duga S, Soldà G. Robusto M, et al. Among authors: primignani p. Eur J Hum Genet. 2015 Jun;23(6):766-73. doi: 10.1038/ejhg.2014.168. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182139 Free PMC article.

3

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Chiereghin C, Robusto M, Mauri L, Primignani P, Castorina P, Ambrosetti U, Duga S, Asselta R, Soldà G. Chiereghin C, et al. Among authors: primignani p. Front Genet. 2021 Feb 10;12:606630. doi: 10.3389/fgene.2021.606630. eCollection 2021. Front Genet. 2021. PMID: 33643381 Free PMC article.

4

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.

Primignani P, Castorina P, Sironi F, Curcio C, Ambrosetti U, Coviello DA. Primignani P, et al. Clin Genet. 2003 Jun;63(6):516-21. doi: 10.1034/j.1399-0004.2003.00079.x. Clin Genet. 2003. PMID: 12786758

5

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.

Primignani P, Trotta L, Castorina P, Lalatta F, Cuda D, Murri A, Ambrosetti U, Cesarani A, Curcio C, Coviello D, Travi M. Primignani P, et al. Laryngoscope. 2007 May;117(5):821-4. doi: 10.1097/MLG.0b013e31803330d9. Laryngoscope. 2007. PMID: 17473676

6

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

Primignani P, Trotta L, Castorina P, Lalatta F, Sironi F, Radaelli C, Degiorgio D, Curcio C, Travi M, Ambrosetti U, Cesarani A, Garavelli L, Formigoni P, Milani D, Murri A, Cuda D, Coviello DA. Primignani P, et al. Genet Test Mol Biomarkers. 2009 Apr;13(2):209-17. doi: 10.1089/gtmb.2008.0086. Genet Test Mol Biomarkers. 2009. PMID: 19371219

7

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Straniero L, Rimoldi V, Soldà G, Mauri L, Manfredini E, Andreucci E, Bargiacchi S, Penco S, Gesu GP, Del Longo A, Piozzi E, Asselta R, Primignani P. Straniero L, et al. Among authors: primignani p. J Hum Genet. 2015 Sep;60(9):467-71. doi: 10.1038/jhg.2015.56. Epub 2015 May 28. J Hum Genet. 2015. PMID: 26016411

8

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: primignani p. Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708. Hum Mutat. 2008. PMID: 18381613

9

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, Gesu GP, Del Longo A, Piozzi E, Soldà G, Primignani P. Rimoldi V, et al. Among authors: primignani p. Gene. 2014 Mar 1;537(1):79-84. doi: 10.1016/j.gene.2013.11.102. Epub 2013 Dec 18. Gene. 2014. PMID: 24361966

10

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Guella I, Pistocchi A, Asselta R, Rimoldi V, Ghilardi A, Sironi F, Trotta L, Primignani P, Zini M, Zecchinelli A, Coviello D, Pezzoli G, Del Giacco L, Duga S, Goldwurm S. Guella I, et al. Among authors: primignani p. Neurobiol Aging. 2011 Nov;32(11):1994-2005. doi: 10.1016/j.neurobiolaging.2009.12.016. Epub 2010 Jan 8. Neurobiol Aging. 2011. PMID: 20060621

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