Coviello DA - Search Results

1

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. Among authors: coviello da. Genet Test Mol Biomarkers. 2009 Apr;13(2):209-17. doi: 10.1089/gtmb.2008.0086. Genet Test Mol Biomarkers. 2009. PMID: 19371219

2

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. Among authors: coviello da. Clin Genet. 2003 Jun;63(6):516-21. doi: 10.1034/j.1399-0004.2003.00079.x. Clin Genet. 2003. PMID: 12786758

3

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.

Coviello DA, Brambati B, Tului L, Percesepe A, Sironi F, Sahai A, Bertorelli R, Forabosco A. Coviello DA, et al. Prenat Diagn. 2004 Aug;24(8):631-4. doi: 10.1002/pd.954. Prenat Diagn. 2004. PMID: 15305352

4

Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.

Percesepe A, Ferrari M, Coviello D, Zanussi M, Castagni M, Neri I, Travi M, Forabosco A, Tedeschi S. Percesepe A, et al. Prenat Diagn. 2005 Nov;25(11):1011-4. doi: 10.1002/pd.1238. Prenat Diagn. 2005. PMID: 16231306

5

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

Bettinelli A, Borsa N, Syrén ML, Mattiello C, Coviello D, Edefonti A, Giani M, Travi M, Tedeschi S. Bettinelli A, et al. Pediatr Res. 2005 Dec;58(6):1269-73. doi: 10.1203/01.pdr.0000185267.95466.41. Pediatr Res. 2005. PMID: 16306206

6

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

7

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA. Degiorgio D, et al. Among authors: coviello da. Eur J Hum Genet. 2007 Dec;15(12):1230-8. doi: 10.1038/sj.ejhg.5201908. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726488

8

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

Paracchini V, Seia M, Coviello D, Porcaro L, Costantino L, Capasso P, Degiorgio D, Padoan R, Corbetta C, Claut L, Costantini D, Colombo C. Paracchini V, et al. Clin Genet. 2008 Apr;73(4):346-52. doi: 10.1111/j.1399-0004.2007.00957.x. Epub 2008 Feb 13. Clin Genet. 2008. PMID: 18279436

9

Banking together. A unified model of informed consent for biobanking.

Salvaterra E, Lecchi L, Giovanelli S, Butti B, Bardella MT, Bertazzi PA, Bosari S, Coggi G, Coviello DA, Lalatta F, Moggio M, Nosotti M, Zanella A, Rebulla P. Salvaterra E, et al. Among authors: coviello da. EMBO Rep. 2008 Apr;9(4):307-13. doi: 10.1038/embor.2008.41. EMBO Rep. 2008. PMID: 18379580 Free PMC article. No abstract available.

10

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Gentilin B, Guerneri S, Bianchi V, Natacci F, Colombo A, Fogliani R, Fortuna R, Coviello DA, Curcio C, Lalatta F. Gentilin B, et al. Among authors: coviello da. Twin Res Hum Genet. 2008 Jun;11(3):352-6. doi: 10.1375/twin.11.3.352. Twin Res Hum Genet. 2008. PMID: 18498214 Review.

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