Publications by authors named "Roberto Ciccone"

51Publications

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.

Neurol Sci 2020 Aug 28;41(8):2271-2274. Epub 2020 Apr 28.

Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1007/s10072-020-04417-2DOI Listing
August 2020

Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke.

J Stroke Cerebrovasc Dis 2015 Apr 26;24(4):759-65. Epub 2015 Feb 26.

Cerebrovascular Unit, IRCCS Foundation Neurological Institute 'C.Besta', Milan, Italy.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2014.10.019DOI Listing
April 2015

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Am J Med Genet A 2015 Apr 23;167A(4):810-5. Epub 2015 Feb 23.

Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36907DOI Listing
April 2015

PRKACB and Carney complex.

N Engl J Med 2014 Mar 26;370(11):1065-7. Epub 2014 Feb 26.

University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1056/NEJMc1309730DOI Listing
March 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

Eur J Med Genet 2013 Jan 18;56(1):54-8. Epub 2012 Oct 18.

Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.002DOI Listing
January 2013

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

Eur J Med Genet 2012 Apr 18;55(4):238-44. Epub 2012 Feb 18.

U.O. Pediatria e TIN Dipartimento Materno-Infantile, Università degli Studi di Palermo via Alfonso Giordano 3, 90127 Palermo, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.014DOI Listing
April 2012

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

Am J Med Genet A 2011 Nov 30;155A(11):2681-7. Epub 2011 Sep 30.

Istituto Scientifico E. Medea, Bosisio Parini (LC), Italy.

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http://dx.doi.org/10.1002/ajmg.a.34248DOI Listing
November 2011

XX males SRY negative: a confirmed cause of infertility.

J Med Genet 2011 Oct 7;48(10):710-2. Epub 2011 Jun 7.

Medical Genetics, University of Pavia, via Forlanini 14, 27100 Pavia, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2011-100036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178810PMC
October 2011

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Hum Genet 2010 Oct 11;128(4):373-82. Epub 2010 Jul 11.

Dipartimento di Biomedicina dell'Età Evolutiva, Sezione di Genetica Medica, Università di Bari Aldo Moro, Policlinico Piazza G. Cesare 11, 70124, Bari, Italy.

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http://dx.doi.org/10.1007/s00439-010-0859-7DOI Listing
October 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

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Nephrol Dial Transplant 2009 Sep 13;24(9):2734-8. Epub 2009 Apr 13.

Department of Clinical Pathophysiology, University of Florence, Italy.

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http://dx.doi.org/10.1093/ndt/gfp160DOI Listing
September 2009

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Eur J Hum Genet 2008 Aug 12;16(8):880-7. Epub 2008 Mar 12.

Servizio Neuropsichiatria Infantile, Policlinico GB Rossi, Università di Verona, Verona, Italy.

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http://www.nature.com/articles/ejhg200842
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http://dx.doi.org/10.1038/ejhg.2008.42DOI Listing
August 2008

Evolutionary and clinical neocentromeres: two faces of the same coin?

Chromosoma 2008 Aug 15;117(4):339-44. Epub 2008 Feb 15.

Department of Genetics and Microbiology, University of Bari, Bari, Italy.

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http://dx.doi.org/10.1007/s00412-008-0150-zDOI Listing
August 2008

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

Eur J Med Genet 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8.

IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.005DOI Listing
June 2008

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.

Eur J Med Genet 2007 Jan-Feb;50(1):79-84. Epub 2006 Nov 10.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Via Jenner s/n, 09134 Cagliari, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120600103
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http://dx.doi.org/10.1016/j.ejmg.2006.10.003DOI Listing
March 2007

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

Eur J Med Genet 2007 Mar-Apr;50(2):139-43. Epub 2006 Oct 28.

Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az. Ospedaliera Bianchi-Melacrino-Morelli, V Petrara Reggio Calabria, 89100 Reggio Calabria, RC, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120600104
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http://dx.doi.org/10.1016/j.ejmg.2006.10.004DOI Listing
May 2007

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

J Hum Genet 2006 6;51(11):1030-1036. Epub 2006 Sep 6.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, via Jenner s/n, 09134, Cagliari, Italy.

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http://dx.doi.org/10.1007/s10038-006-0049-6DOI Listing
January 2007

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Hum Genet 2005 Nov 15;118(2):207-13. Epub 2005 Nov 15.

Biologia Generale e Genetica Medic, Università di Pavia, Via forlanini, 14-27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s00439-005-0008-xDOI Listing
November 2005