Publications by authors named "Corrado Romano"

100Publications

gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome.

Asian J Androl 2020 10 27. Epub 2020 Oct 27.

Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/aja.aja_37_20DOI Listing
October 2020

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 Oct 21;11(1):5398. Epub 2020 Oct 21.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-020-19289-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578800PMC
October 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects.

Hum Cell 2020 Jul 18;33(3):476-478. Epub 2020 May 18.

Oasi Research Institute-IRCCS, Troina, EN, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13577-020-00374-2DOI Listing
July 2020

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 09 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Expression of miR-132 in Down syndrome subjects.

Hum Cell 2018 Jul 8;31(3):268-270. Epub 2018 May 8.

Oasi Research Institute-IRCCS, Troina, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s13577-018-0209-y
Publisher Site
http://dx.doi.org/10.1007/s13577-018-0209-yDOI Listing
July 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome.

Eur J Pharmacol 2017 Dec 5;817:7-19. Epub 2017 Oct 5.

Department of Neurology and Neurosurgery, McGill University, Montreal, Canada H3G1Y6; Department of Anatomy and Cell Biology, McGill University, Montreal, Canada H3G1Y6; Department of Pharmacology and Therapeutics, McGill University, Montreal, Canada H3G1Y6. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejphar.2017.10.004DOI Listing
December 2017

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.

Acta Neurol Belg 2020 Apr 19;120(2):381-383. Epub 2017 Jul 19.

IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13760-017-0818-3DOI Listing
April 2020

Facies: the value of an old diagnostic tip in pediatric dermatology.

G Ital Dermatol Venereol 2018 Oct 19;153(5):716-721. Epub 2017 Apr 19.

Unit of Pediatrics and Medical Genetics, Oasi Institute (IRCCS), Troina, Enna, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23736/S0392-0488.17.05626-7DOI Listing
October 2018

The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study.

J Alzheimers Dis 2017 ;56(4):1451-1457

Department of Translational Research and New Technologies in Medicine and Surgery, Section of Medical Genetics, University of Pisa, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-161081DOI Listing
February 2018

A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.

J Matern Fetal Neonatal Med 2017 Nov 7;30(22):2752-2754. Epub 2016 Dec 7.

a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14767058.2016.1262343DOI Listing
November 2017

Low AMH levels as a marker of reduced ovarian reserve in young women affected by Down's syndrome.

Menopause 2016 11;23(11):1247-1251

1Department of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore, Roma, Italia 2OASI Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GME.0000000000000695DOI Listing
November 2016

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.

G Ital Dermatol Venereol 2016 Oct;151(5):582-5

Laboratorio di Genetica Molecolare, Unità Operativa Complessa di Genetica Medica, IRCCS Associazione Oasi Maria SS., Troina, Enna, Italy -

View Article

Download full-text PDF

Source
October 2016

An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation.

Alzheimers Dement 2016 11 21;12(11):1132-1148. Epub 2016 Jul 21.

Department of Pharmacology and Therapeutics, McGill University, Montreal, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada; Department of Anatomy and Cell Biology, McGill University, Montreal, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jalz.2016.05.001DOI Listing
November 2016

Killer-specific secretory (Ksp37) gene expression in subjects with Down's syndrome.

Neurol Sci 2016 May 31;37(5):793-5. Epub 2016 Mar 31.

IRCCS Associazione Oasi Maria SS Institute for Research on Mental Retardation and Brain Aging, Troina (EN), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-016-2554-5DOI Listing
May 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.

J Clin Lab Anal 2016 May 26;30(3):196-9. Epub 2014 Dec 26.

Section of Endocrinology, Andrology and Internal Medicine, Department of Medical and Pediatric Sciences, University of Catania, Catania, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcla.21835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807182PMC
May 2016

NF-kB1 gene expression in Down syndrome patients.

Neurol Sci 2015 Jun 16;36(6):1065-6. Epub 2014 Oct 16.

Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-014-1981-4DOI Listing
June 2015

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Genet Med 2015 May 18;17(5):396-9. Epub 2014 Sep 18.

1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.118DOI Listing
May 2015

The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis.

Mol Biol Rep 2014 Sep;41(9):5571-83

Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Via Roma 55, 56126, Pisa, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11033-014-3462-5DOI Listing
September 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.

View Article

Download full-text PDF

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

CASP3 protein expression by flow cytometry in Down's syndrome subjects.

Hum Cell 2014 Jan 13;27(1):43-5. Epub 2013 Dec 13.

IRCCS Associazione Oasi Maria SS, Institute for Research On Mental Retardation and Brain Aging, Troina, EN, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13577-013-0071-xDOI Listing
January 2014

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Am J Med Genet A 2013 Dec 24;161A(12):3018-22. Epub 2013 Sep 24.

Unit of Psychology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36142DOI Listing
December 2013

The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.

Mol Biol Rep 2013 Dec 23;40(12):6913-25. Epub 2013 Oct 23.

Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Via S. Giuseppe 22, 56126, Pisa, IT, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11033-013-2810-1DOI Listing
December 2013

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.

View Article

Download full-text PDF

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

Pericentrin expression in Down's syndrome.

Neurol Sci 2013 Nov 27;34(11):2023-5. Epub 2013 Aug 27.

IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-013-1529-zDOI Listing
November 2013

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.

View Article

Download full-text PDF

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

DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome.

Hum Reprod 2013 Feb 18;28(2):545-50. Epub 2012 Oct 18.

Department of Laboratory Medicine, Pisa University Hospital (AOUP), Via S. Giuseppe 22, Pisa 56126, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/des376DOI Listing
February 2013

KIF21A mRNA expression in patients with Down syndrome.

Neurol Sci 2013 Apr 12;34(4):569-71. Epub 2012 Sep 12.

Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-012-1183-xDOI Listing
April 2013

SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism.

Neurol Sci 2013 Apr 8;34(4):549-51. Epub 2012 Jul 8.

Laboratory of Cytogenetics, IRCSS Associazione Oasi Maria S.S., Institute for Research on Mental Retardation and Brain Aging, 94018 Troina, EN, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-012-1152-4DOI Listing
April 2013

PTEN gene: a model for genetic diseases in dermatology.

ScientificWorldJournal 2012 30;2012:252457. Epub 2012 Apr 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1100/2012/252457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3353286PMC
October 2012

Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.

J Genet 2012 Mar 13;91(1):e18-23. Epub 2012 Mar 13.

Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

View Article

Download full-text PDF

Source
March 2012

Expression of LDOC1 mRNA in leucocytes of patients with Down's syndrome.

J Genet 2012 ;91(1):95-8

Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.

View Article

Download full-text PDF

Source
September 2012

Differential expression of PARP1 mRNA in leucocytes of patients with Down's syndrome.

J Genet 2011 Dec;90(3):469-72

Laboratory of Cytogenetics, Oasi Institute for Research on Mental Retardation and Brain Aging, 94018 Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12041-011-0074-xDOI Listing
December 2011

An unusual presentation of Becker Nevus.

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome.

Int J Dermatol 2008 Apr;47(4):374-6

Unit of Dermatology, Oasi Institute (IRCCS), Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-4632.2008.03440.xDOI Listing
April 2008

A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation.

Genet Test 2007 ;11(2):124-7

Laboratorio di Citogenetica, Oasi Institute for Research on Mental Retardation and Brain Aging, 94018 Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gte.2006.0510DOI Listing
September 2007

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.

View Article

Download full-text PDF

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

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.

Eur J Hum Genet 2007 Oct 20;15(10):1098-101. Epub 2007 Jun 20.

Unit of Pediatrics and Medical Genetics, Department for Mental Retardation, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201880DOI Listing
October 2007

Hypersensitivity to aromatic anticonvulsants: in vivo and in vitro cross-reactivity studies.

Curr Pharm Des 2006 ;12(26):3373-81

Department of Internal Medicine and Geriatrics, UCSC-Allergy Unit, Complesso Integrato Columbus, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/138161206778193962DOI Listing
December 2006

Genetic determinants of folate and vitamin B12 metabolism: a common pathway in neural tube defect and Down syndrome?

Clin Chem Lab Med 2003 Nov;41(11):1473-7

INSERM 00-14, Laboratory of Cellular and Molecular Pathology in Nutrition, Faculty of Medicine Nancy, Vandoeuvre lès Nancy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/CCLM.2003.226DOI Listing
November 2003