Coviello DA - Search Results

1

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Syrén ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A. Syrén ML, et al. Among authors: coviello da. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667

2

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, La Rosa C, Garrè C, Coviello DA, Ajmar F, Dallapiccola B, Bonioli E. Origone P, et al. Among authors: coviello da. Hum Mutat. 2002 Jul;20(1):74-5. doi: 10.1002/humu.9039. Hum Mutat. 2002. PMID: 12112660

3

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Origone P, Bellini C, Sambarino D, Banelli B, Morcaldi G, La Rosa C, Stanzial F, Castellan C, Coviello DA, Garrè C, Bonioli E. Origone P, et al. Among authors: coviello da. Hum Mutat. 2003 Aug;22(2):179-80. doi: 10.1002/humu.9166. Hum Mutat. 2003. PMID: 12872266

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

R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.

Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren ML, Paloschi V, Giannini S, Mignogna G, Rubinacci A, Ferraretto A, Cusi D, Bianchi G, Soldati L. Vezzoli G, et al. Kidney Int. 2007 Jun;71(11):1155-62. doi: 10.1038/sj.ki.5002156. Epub 2007 Feb 28. Kidney Int. 2007. PMID: 17332735 Free article.

7

Hypokalaemia and failure to thrive: report of a misleading onset.

Conti G, Vitale A, Tedeschi S, Syrén ML, Pantano R, Chimenz R, Fede S, La Torre F, Coviello D, Fede C. Conti G, et al. J Paediatr Child Health. 2010 May;46(5):276-7. doi: 10.1111/j.1440-1754.2009.01684.x. Epub 2010 Apr 16. J Paediatr Child Health. 2010. PMID: 20412406

8

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.

Syrén ML, Borsa Ghiringhelli N, Bettinelli A, Colussi G, Vargas-Poussou R, Tammaro F, Coviello DA, Tedeschi S; Italian Collaborative Group for Gitelman Syndrome. Syrén ML, et al. Among authors: coviello da. Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30. Nephrol Dial Transplant. 2011. PMID: 20675610

9

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Degiorgio D, Crosignani A, Colombo C, Bordo D, Zuin M, Vassallo E, Syrén ML, Coviello DA, Battezzati PM. Degiorgio D, et al. Among authors: coviello da. J Gastroenterol. 2016 Mar;51(3):271-80. doi: 10.1007/s00535-015-1110-z. Epub 2015 Sep 1. J Gastroenterol. 2016. PMID: 26324191

10

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

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