Domenico A Coviello

Domenico A Coviello

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Domenico A Coviello

Domenico A Coviello

Publications by authors named "Domenico A Coviello"

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33Publications

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

J Gastroenterol 2016 Mar 1;51(3):271-80. Epub 2015 Sep 1.

Division of Internal Medicine and Liver Unit, School of Medicine Ospedale San Paolo, Department of Health Sciences, Università degli Studi di Milano, 20143, Milan, Italy.

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http://dx.doi.org/10.1007/s00535-015-1110-zDOI Listing
March 2016

Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties.

Differentiation 2012 Jun 31;83(5):260-70. Epub 2012 Mar 31.

Laboratorio di Biologia Vascolare e Medicina Rigenerativa, Centro Cardiologico Monzino, IRCCS, Milano, Italy.

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http://dx.doi.org/10.1016/j.diff.2012.02.006DOI Listing
June 2012

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance.

J Assist Reprod Genet 2011 May 1;28(5):461-70. Epub 2011 Mar 1.

Department of Obstetrics and Gynaecology, Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, via M. Fanti 6, 20122 Milan, Italy.

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http://dx.doi.org/10.1007/s10815-011-9540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3151362PMC
May 2011

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.

Nephrol Dial Transplant 2011 Feb 30;26(2):557-61. Epub 2010 Jul 30.

Dipartimento di Scienze Materno-Infantili, Universita degli Studi di Milano, Laboratorio di Genetica Medica, Fondazione IRCCS Ca’ Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1093/ndt/gfq458DOI Listing
February 2011

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients.

J Cyst Fibros 2010 Dec 26;9(6):411-8. Epub 2010 Sep 26.

Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda, 12, 20122 Milan, Italy.

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http://dx.doi.org/10.1016/j.jcf.2010.08.009DOI Listing
December 2010

alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.

Parkinsonism Relat Disord 2010 Mar 14;16(3):228-31. Epub 2009 Oct 14.

Parkinson Institute, Istituti Clinici di Perfezionamento, via Bignami 1, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2009.09.008DOI Listing
March 2010

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

Twin Res Hum Genet 2008 Jun;11(3):352-6

Clinical Genetic Unit, Dipartimento Salute della Donna, del Bambino e del Neonato, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1375/twin.11.3.352DOI Listing
June 2008

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

Eur J Hum Genet 2007 Dec 29;15(12):1230-8. Epub 2007 Aug 29.

Laboratorio di Genetica Medica, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201908DOI Listing
December 2007

Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future.

Eur J Hum Genet 2007 Dec 26;15(12):1203-4. Epub 2007 Sep 26.

Laboratory of Medical Genetics, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

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http://www.nature.com/articles/5201927
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http://dx.doi.org/10.1038/sj.ejhg.5201927DOI Listing
December 2007

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.

Growth Horm IGF Res 2005 Dec 5;15(6):405-10. Epub 2005 Oct 5.

Dipartimento di Pediatria, Largo G. Gaslini, 5 16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.ghir.2005.08.004DOI Listing
December 2005

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

Prenat Diagn 2004 Aug;24(8):631-4

Laboratorio di Genetica Medica, Istituti Clinici di Perfezionamento, Milan, Italy.

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http://dx.doi.org/10.1002/pd.954DOI Listing
August 2004