Gasparini P - Search Results

1

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G. Morgan A, et al. Among authors: gasparini p. Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1. Hum Mutat. 2019. PMID: 31397523

2

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.

Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti PF, Cabrini G. Gasparini P, et al. Hum Mutat. 1993;2(5):389-94. doi: 10.1002/humu.1380020511. Hum Mutat. 1993. PMID: 7504969

3

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

López-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbonés ML, Estivill X. López-Bigas N, et al. Among authors: gasparini p. Hum Mutat. 1999;14(6):520-6. doi: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10571950

4

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R, Gasparini P, Estivill X. Rabionet R, et al. Among authors: gasparini p. Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I. Hum Mutat. 2000. PMID: 10980526 Review.

5

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. López-Bigas N, et al. Among authors: gasparini p. Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238. Hum Mutat. 2001. PMID: 11748854 Corrected and republished.

6

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. López-Bigas N, et al. Among authors: gasparini p. Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043. Hum Mutat. 2002. PMID: 12112665

7

Are MYO1C and MYO1F associated with hearing loss?

Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M. Zadro C, et al. Among authors: gasparini p. Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5. Biochim Biophys Acta. 2009. PMID: 19027848 Free article.

8

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Guastalla P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Zocconi E, Stefanidou D, D'Adamo P, Ronfani L, Montico M, Morgutti M, Gasparini P. Guastalla P, et al. Among authors: gasparini p. Radiology. 2009 Apr;251(1):280-6. doi: 10.1148/radiol.2511080912. Epub 2009 Feb 3. Radiology. 2009. PMID: 19190252

9

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. Fabretto A, et al. Among authors: gasparini p. Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517. Ophthalmic Genet. 2010. PMID: 20450314

10

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. Faletra F, et al. Among authors: gasparini p. J Appl Genet. 2011 Feb;52(1):77-80. doi: 10.1007/s13353-010-0004-2. Epub 2010 Nov 3. J Appl Genet. 2011. PMID: 21107783 No abstract available.

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