Emilio Donti

Emilio Donti

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Emilio Donti

Emilio Donti

Publications by authors named "Emilio Donti"

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33Publications

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Comparative proteomic analysis of two distinct stem-cell populations from human amniotic fluid.

Mol Biosyst 2015 Jun 26;11(6):1622-32. Epub 2015 Mar 26.

Department of Experimental Medicine, University of Perugia, Polo Didattico Sant'Andrea delle Fratte, Piazzale Gambuli, 06132 Perugia, Italy.

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http://dx.doi.org/10.1039/c5mb00018aDOI Listing
June 2015

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Nat Genet 2015 Feb 15;47(2):132-41. Epub 2014 Dec 15.

1] Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy. [2] Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ng.3169DOI Listing
February 2015

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.

Am J Med Genet A 2014 Dec 24;164A(12):3137-41. Epub 2014 Sep 24.

Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera-Universitaria di Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36741DOI Listing
December 2014

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Neurogenetics 2014 Oct 17;15(4):237-42. Epub 2014 Aug 17.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia, Hospital "S. M. della Misericordia", Via E. dal Pozzo, 06123, Perugia, Italy,

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http://link.springer.com/10.1007/s10048-014-0418-9
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http://dx.doi.org/10.1007/s10048-014-0418-9DOI Listing
October 2014

Hypothesis: gonadal temperature influences sex-specific imprinting.

Front Genet 2014 25;5:294. Epub 2014 Aug 25.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia Perugia, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4142806PMC
September 2014

Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

Eur J Paediatr Neurol 2014 Jul 15;18(4):453-7. Epub 2014 Feb 15.

Clinica Neurologica, Azienda Ospedaliero - Universitaria di Perugia, Italy; I.R.C.C.S., Fondazione S. Lucia, Roma, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.02.001DOI Listing
July 2014

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Cephalalgia 2014 Jan 5;34(1):68-72. Epub 2013 Aug 5.

Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Italy.

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http://dx.doi.org/10.1177/0333102413498941DOI Listing
January 2014

Xq12-q13.3 duplication: evidence of a recurrent syndrome.

Ann Neurol 2012 Nov;72(5):821-2; author reply 822-3

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http://dx.doi.org/10.1002/ana.23754DOI Listing
November 2012

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

Am J Med Genet A 2011 Dec 3;155A(12):3125-7. Epub 2011 Nov 3.

CRR Genetica Medica, Università ed Azienda Ospedaliera di Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34295DOI Listing
December 2011

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Am J Med Genet A 2011 Nov 11;155A(11):2746-9. Epub 2011 Oct 11.

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34270DOI Listing
November 2011

Deletion 2p15-16.1 syndrome: case report and review.

Am J Med Genet A 2011 Oct 9;155A(10):2473-8. Epub 2011 Sep 9.

Sezione di Genetica Medica, Università e Azienda Ospedaliera di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33875DOI Listing
October 2011

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Am J Med Genet A 2011 May 4;155A(5):1106-8. Epub 2011 Apr 4.

Sezione di Genetica Medica, Azienda Ospedaliera e Università di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33826DOI Listing
May 2011

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Am J Med Genet A 2011 Apr 17;155A(4):928-30. Epub 2011 Mar 17.

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia and S. Maria della Misericordia Hospital, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33817DOI Listing
April 2011

Sustained molecular remissions are achievable with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia and additional cytogenetic clonal evolution.

Cancer Genet Cytogenet 2010 Jun;199(2):139-42

Oncohematology Unit, Department of Clinical and Experimental Medicine, University of Perugia, S. Maria Hospital, Via Tristano di Joannuccio 1, 05100 Terni, Italy.

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http://dx.doi.org/10.1016/j.cancergencyto.2010.02.008DOI Listing
June 2010

Hot water epilepsy and Mccune-Albright syndrome: a case report.

Seizure 2009 Mar 15;18(2):161-2. Epub 2008 Aug 15.

Clinica Neurologica, University of Perugia, Ospedale S. Maria della Misericordia, S Andrea delle Fratte, 06156 Perugia, Italy.

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http://dx.doi.org/10.1016/j.seizure.2008.07.005DOI Listing
March 2009

Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).

Am J Med Genet A 2009 Mar;149A(3):543-5

Medical Genetics Unit, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32692DOI Listing
March 2009

2q31.2q32.3 deletion syndrome: report of an adult patient.

Am J Med Genet A 2009 Feb;149A(4):706-12

Medical Genetics Unit, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32688DOI Listing
February 2009