Publications by authors named "Marco Fichera"

65Publications

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Int J Dev Neurosci 2020 Jun 25;80(4):276-286. Epub 2020 Mar 25.

Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/jdn.10024DOI Listing
June 2020

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 06 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1038/s41431-019-0335-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777581PMC
June 2019

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Am J Med Genet A 2017 Jun 13;173(6):1649-1655. Epub 2017 Apr 13.

Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38205DOI Listing
June 2017

Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase.

Anticancer Drugs 2016 08;27(7):609-19

aUniversity of Catania bDepartment of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania cDepartment of Hematology and Bone Marrow Transplant Unit, Hospital Ferrarotto, Catania, Italy.

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http://dx.doi.org/10.1097/CAD.0000000000000367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936475PMC
August 2016

Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth.

Am J Med Genet A 2014 May 29;164A(5):1262-7. Epub 2014 Jan 29.

Department of Educational Sciences, Chair of Pediatrics, University of Catania, Catania, Italy; Unit of Neurosurgery, Department of Neurosciences, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36414DOI Listing
May 2014

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Am J Med Genet A 2014 Mar 23;164A(3):828-33. Epub 2014 Jan 23.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36363DOI 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

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.

Gene 2014 Jan 8;534(2):435-9. Epub 2013 Oct 8.

Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy; Medical Genetics, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1016/j.gene.2013.09.120DOI Listing
January 2014

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.

Nat Methods 2013 Sep 28;10(9):903-9. Epub 2013 Jul 28.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/nmeth.2572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985568PMC
September 2013

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.

Am J Med Genet A 2013 Jun 23;161A(6):1381-5. Epub 2013 Apr 23.

Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35860DOI Listing
June 2013

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.

Eur J Paediatr Neurol 2012 Nov 11;16(6):744-8. Epub 2012 Apr 11.

Hospital Unit of Pediatrics, University Hospital OVE-Policlinico, Catania, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S109037981200053
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http://dx.doi.org/10.1016/j.ejpn.2012.03.001DOI Listing
November 2012

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.

J Genet 2011 Dec;90(3):473-7

Dipartimento Materno Infantile, Universitá degli Studi, Via Alfonso Giordano 3, Palermo 90127, Italy.

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http://dx.doi.org/10.1007/s12041-011-0096-4DOI Listing
December 2011

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.

J Autism Dev Disord 2012 Oct;42(10):2202-7

Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Catania, Via S. Sofia 78, Catania, Italy.

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http://dx.doi.org/10.1007/s10803-011-1432-5DOI Listing
October 2012

An unusual presentation of Becker Nevus.

Eur J Dermatol 2010 Jul-Aug;20(4):522-3. Epub 2010 Apr 20.

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http://dx.doi.org/10.1684/ejd.2010.0971DOI Listing
September 2010

A novel L1CAM mutation in a fetus detected by prenatal diagnosis.

Eur J Pediatr 2010 Apr 16;169(4):415-9. Epub 2009 Aug 16.

U.O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy.

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http://link.springer.com/10.1007/s00431-009-1037-6
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http://dx.doi.org/10.1007/s00431-009-1037-6DOI Listing
April 2010

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

12q12 deletion: a new patient contributing to genotype-phenotype correlation.

Am J Med Genet A 2008 May;146A(10):1354-7

Unit of Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32280DOI Listing
May 2008

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.

Clin Chim Acta 2007 Sep 26;384(1-2):35-40. Epub 2007 May 26.

Biological Chemistry, Department of Molecular Biology, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.cca.2007.05.016DOI Listing
September 2007

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.

Neuromuscul Disord 2007 Mar 22;17(3):258-61. Epub 2007 Jan 22.

Dipartimento di Neurologia, IRCCS Oasi Maria SS, Troina, Italy.

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http://dx.doi.org/10.1016/j.nmd.2006.11.006DOI Listing
March 2007

Quantitative evaluation of partial deletions of the DAZ gene cluster.

Int J Mol Med 2006 May;17(5):785-9

Section of Endocrinology, Andrology and Internal Medicine, University of Catania, I-95123 Catania, Italy.

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May 2006

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

Arch Neurol 2006 Feb;63(2):284-7

Genetic Diagnostic Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Oasi Maria SS, Troina, Italy.

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http://dx.doi.org/10.1001/archneur.63.2.284DOI Listing
February 2006

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

Neuromuscul Disord 2004 Nov;14(11):750-3

Laboratorio di Patologia Genetica, IRCCS Oasi Maria SS, via Conte Ruggero 73, Troina (Enna) 94018, Italy.

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http://dx.doi.org/10.1016/j.nmd.2004.05.017DOI Listing
November 2004

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias.

Clin Chem 2004 Jul;50(7):1242-5

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS)-Casa Sollievo Sofferenza (CSS), San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1373/clinchem.2004.032664DOI Listing
July 2004