Publications by authors named "Giuseppe Calabrese"

47Publications

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

Impact of lockdown on the microbiological status of the hospital water network during COVID-19 pandemic.

Environ Res 2020 12 23;191:110231. Epub 2020 Sep 23.

Regional Reference Laboratory of Clinical and Environmental Surveillance of Legionellosis, Department of Biomedical Science and Human Oncology, University of Bari Aldo Moro, Piazza G. Cesare 11, 70124, Bari, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.envres.2020.110231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7511218PMC
December 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

Non-invasive prenatal screening: A 20-year experience in Italy.

Eur J Obstet Gynecol Reprod Biol X 2019 Jul 18;3:100050. Epub 2019 May 18.

Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eurox.2019.100050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687402PMC
July 2019

Sensitivity of cutaneous chronic myelomonocytic leukaemia lesions to hypomethylating treatment.

Eur J Dermatol 2017 10;27(5):540-542

Institute of Hematology and Hemato-Oncology Research Centre (CREO), University of Perugia, Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2017.3068DOI Listing
October 2017

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

Cytogenet Genome Res 2015 13;146(2):115-9. Epub 2015 Aug 13.

Department of Pediatrics, University of Perugia, Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000438502DOI Listing
January 2016

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases.

Seizure 2014 Oct 1;23(9):774-9. Epub 2014 Jul 1.

Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2014.06.008DOI Listing
October 2014

A case of triploidy detected by crosstrimester test.

J Prenat Med 2012 Jul;6(3):55-6

Department of Medical Genetics, "Spirito Santo" Hospital, Pescara, Italy ; Department of Medical Genetics a University of Chieti, Chieti, Italy.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3503519PMC
July 2012

Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women.

Prenat Diagn 2012 Dec 25;32(12):1147-50. Epub 2012 Sep 25.

Department of Medical Genetics, Spirito Santo Hospital, Pescara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.3974DOI Listing
December 2012

Partial trisomy of chromosome 13 as a single cytogenetic abnormality in an Italian case of nasal NK/T lymphoma.

Cancer Genet 2012 Apr;205(4):186-9

Department of Surgical and Morphological Sciences, Unit of Pathology, University of Insubria-Ospedale di Circolo, Varese, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergen.2012.02.005DOI Listing
April 2012

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.

Pediatrics 2012 Jan 5;129(1):e183-8. Epub 2011 Dec 5.

Department of Oral Sciences, Nano and Biotechnologies, G. D'Annunzio University, Via dei Vestini 31, 66100 Chieti, Italy.

View Article

Download full-text PDF

Source
http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2010-2094DOI Listing
January 2012

Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women.

Prenat Diagn 2011 Nov 29;31(11):1077-81. Epub 2011 Jul 29.

Department of Medical Genetics, Spirito Santo Hospital, Pescara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2836DOI Listing
November 2011

Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.

Eur J Med Genet 2011 May-Jun;54(3):333-6. Epub 2011 Feb 24.

Department of Oral Sciences, Nano and Biotechnologies, G. D'Annunzio University, Via dei Vestini 31, 66100 Chieti, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.02.003DOI Listing
September 2011

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.

J Assist Reprod Genet 2008 Nov-Dec;25(11-12):577-80. Epub 2008 Oct 25.

Department of Obstetrics and Gynecology, University Gabriele d'Annunzio, d'Annunzio Foundation, Chieti, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10815-008-9257-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2593768PMC
March 2009

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

Eur J Med Genet 2008 May-Jun;51(3):239-44. Epub 2008 Feb 13.

Department of Medical Genetics, University G. D'Annunzio, Via dei Vestini, 66100 Chieti, Italy.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120800024
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2008.02.002DOI Listing
August 2008

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

J Hum Genet 2007 8;52(1):21-27. Epub 2006 Nov 8.

Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10038-006-0074-5DOI Listing
March 2007

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes.

Exp Neurol 2007 Jan 27;203(1):233-40. Epub 2006 Sep 27.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.expneurol.2006.08.007DOI Listing
January 2007

Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate.

Leuk Res 2007 Apr 17;31(4):563-7. Epub 2006 Aug 17.

Molecular Biology Laboratory, Department of Transfusional Medicine, Ospedale Civile Spirito Santo, Pescara-Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.leukres.2006.05.021DOI Listing
April 2007

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.

Genomics 2005 Feb;85(2):280-3

Department of Biomedical Sciences, Gabriele d'Annunzio University Foundation, Chieti-Pescara, Via dei Vestini 35, 66013 Chieti, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ygeno.2004.10.015DOI Listing
February 2005

Grafts of microencapsulated pancreatic islet cells for the therapy of diabetes mellitus in non-immunosuppressed animals.

Biotechnol Appl Biochem 2004 Apr;39(Pt 2):159-64

Department of Internal Medicine, Section of Internal Medicine and Endocrine and Metabolic Sciences (Di.M.I.), University of Perugia, Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/BA20030151DOI Listing
April 2004

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

Invest Ophthalmol Vis Sci 2002 Dec;43(12):3609-12

Department of Experimental Medicine and Pathology, University of Rome La Sapienza, Italy.

View Article

Download full-text PDF

Source
December 2002

Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia.

Haematologica 2002 Aug;87(8):888-9

Dip. Scienze Biomediche/Sez. Genetica Medica, Università di Chieti, Ospedale Civile, via B. Buozzi 93, 65121 Pescara, Italy.

View Article

Download full-text PDF

Source
August 2002

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.

Eur J Hum Genet 2002 Jun;10(6):388-90

Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università 'G. D'Annunzio', Chieti, Italy.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5200819
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5200819DOI Listing
June 2002