Coviello DA - Search Results

1

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Cecconi M, Parodi MI, Formisano F, Spirito P, Autore C, Musumeci MB, Favale S, Forleo C, Rapezzi C, Biagini E, Davì S, Canepa E, Pennese L, Castagnetta M, Degiorgio D, Coviello DA. Cecconi M, et al. Among authors: coviello da. Int J Mol Med. 2016 Oct;38(4):1111-24. doi: 10.3892/ijmm.2016.2732. Epub 2016 Sep 7. Int J Mol Med. 2016. PMID: 27600940 Free PMC article.

2

A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.

Watkins H, Anan R, Coviello DA, Spirito P, Seidman JG, Seidman CE. Watkins H, et al. Among authors: coviello da. Circulation. 1995 May 1;91(9):2302-5. doi: 10.1161/01.cir.91.9.2302. Circulation. 1995. PMID: 7729014

3

[Recent findings regarding the molecular changes responsible for hypertrophic cardiomyopathy].

Spirito P, Coviello D, Ravazzolo R, Vecchio C. Spirito P, et al. G Ital Cardiol. 1993 Mar;23(3):313-6. G Ital Cardiol. 1993. PMID: 8325470 Review. Italian. No abstract available.

4

Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.

Coviello DA, Maron BJ, Spirito P, Watkins H, Vosberg HP, Thierfelder L, Schoen FJ, Seidman JG, Seidman CE. Coviello DA, et al. J Am Coll Cardiol. 1997 Mar 1;29(3):635-40. doi: 10.1016/s0735-1097(96)00538-4. J Am Coll Cardiol. 1997. PMID: 9060904 Free article.

5

A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity.

Bottinelli R, Coviello DA, Redwood CS, Pellegrino MA, Maron BJ, Spirito P, Watkins H, Reggiani C. Bottinelli R, et al. Among authors: coviello da. Circ Res. 1998 Jan 9-23;82(1):106-15. doi: 10.1161/01.res.82.1.106. Circ Res. 1998. PMID: 9440709

6

Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.

Casali C, d'Amati G, Bernucci P, DeBiase L, Autore C, Santorelli FM, Coviello D, Gallo P. Casali C, et al. J Am Coll Cardiol. 1999 May;33(6):1584-9. doi: 10.1016/s0735-1097(99)00079-0. J Am Coll Cardiol. 1999. PMID: 10334428 Free article.

7

A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

Tavian D, Degiorgio D, Roncaglia N, Vergani P, Cameroni I, Colombo R, Coviello DA. Tavian D, et al. Among authors: coviello da. Dig Liver Dis. 2009 Sep;41(9):671-5. doi: 10.1016/j.dld.2008.12.101. Epub 2009 Mar 3. Dig Liver Dis. 2009. PMID: 19261551

8

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G; SIGENP Study Group for Genetic Cholestasis. Colombo C, et al. Among authors: coviello da. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363. J Pediatr Gastroenterol Nutr. 2011. PMID: 21119540

9

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

Degiorgio D, Corsetto PA, Rizzo AM, Colombo C, Seia M, Costantino L, Montorfano G, Tomaiuolo R, Bordo D, Sansanelli S, Li M, Tavian D, Rastaldi MP, Coviello DA. Degiorgio D, et al. Among authors: coviello da. Eur J Hum Genet. 2014 May;22(5):633-9. doi: 10.1038/ejhg.2013.214. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045840 Free PMC article.

10

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

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