Publications by authors named "Valentina Cetica"

30Publications

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.

Epilepsia 2019 12;60 Suppl 3:S2-S7

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/10.1111/epi.16054DOI Listing
December 2019

A KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Front Pediatr 2019 6;7:348. Epub 2019 Sep 6.

Division of Neonatology and Neonatal Intensive Care Unit, Department of Maternal and Child Health, Santa Chiara Hospital, University of Pisa, Pisa, Italy.

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http://dx.doi.org/10.3389/fped.2019.00348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743415PMC
September 2019

Clinical and genetic factors predicting Dravet syndrome in infants with mutations.

Neurology 2017 Mar 15;88(11):1037-1044. Epub 2017 Feb 15.

From the Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (V.C., S.C., D.M., E.P., C.M., D.P., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence; Department of Statistics, Computer Science and Applications (L.G.), University of Florence; Division of Child Neurology and Psychiatry Epilepsy and Clinical Neurophysiology Laboratory (A.F., F.S., R.G.), IRCCS Stella Maris Foundation, Pisa; Department of Neurosciences (N.S., M.T.), Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome; Child Neuropsichiatry Fondazione Policlinico Universitario Agostino Gemelli (D.B., I.C.), Università Cattolica del Sacro Cuore, Rome; Child Neuropsychiatry Unit (N.Z., C.P.), Ospedali Riuniti, Ancona; and Department of Pediatric Neuroscience (T.G., F.R., G.A.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000003716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384833PMC
March 2017

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

J Allergy Clin Immunol 2015 Jun 13;135(6):1638-41. Epub 2015 Jan 13.

Centre for Infectious Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden; Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.11.030DOI Listing
June 2015

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.

J Allergy Clin Immunol 2014 Dec 27;134(6):1381-1387.e7. Epub 2014 Jun 27.

Istituto di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliera Universitaria San Martino-Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.

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http://dx.doi.org/10.1016/j.jaci.2014.04.043DOI Listing
December 2014

XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells.

Eur J Immunol 2014 May 27;44(5):1526-34. Epub 2014 Feb 27.

Istituto di Ricovero e Cura a Carattere Scientifico Azienda Ospedaliera Universitaria San Martino-Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.

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http://dx.doi.org/10.1002/eji.201344312DOI Listing
May 2014

Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.

J Pediatr Hematol Oncol 2014 Aug;36(6):e359-65

*Pediatric Hematology-Oncology, Azienda Ospedaliero Universitaria Meyer Children Hospital, Firenze †Istituto Toscano Tumori (I.T.T.), Tuscany Pediatric Hematology Oncology Network, Florence ‡Istituto di Ricerca Pediatrico, Fondazione Città della Speranza §Clinica di Oncoematologia Pediatrica, Azienda Ospedaliera-Università di Padova ∥Department of Pathology, San Bortolo Hospital, Vicenza ¶Clinica Pediatrica, Università di Udine, Udine, Italy.

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http://dx.doi.org/10.1097/MPH.0000000000000073DOI Listing
August 2014

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.

Cell Mol Life Sci 2012 Jan 12;69(1):29-40. Epub 2011 Oct 12.

Dipartimento Oncoematologia Pediatrica e Cure Domiciliari, Azienda Ospedaliero-Universitaria Meyer, Viale Pieraccini, 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1007/s00018-011-0835-yDOI Listing
January 2012

Tumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy.

Histopathology 2011 Feb 16;58(3):455-66. Epub 2011 Feb 16.

Division of Pathological Anatomy, Department of Critical Care Medicine and Surgery, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/j.1365-2559.2011.03770.xDOI Listing
February 2011

Promoter methylation and expression analysis of MGMT in advanced pediatric brain tumors.

Oncol Rep 2009 Oct;22(4):773-9

Department of Pediatric Hematology-Oncology, University of Florence, A.O.U. Meyer Children's Hospital, 50139 Florence, Italy.

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http://dx.doi.org/10.3892/or_00000499DOI Listing
October 2009

Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage.

J Neurooncol 2009 Sep 17;94(2):195-201. Epub 2009 Mar 17.

Onco-Hematology Unit, Department of Pediatrics, Florence Medical School, A. Meyer Children's Hospital, viale Pieraccini 24, 50139, Florence, Italy.

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http://dx.doi.org/10.1007/s11060-009-9837-0DOI Listing
September 2009

Pediatric sinonasal neuroendocrine carcinoma after treatment of retinoblastoma.

Hum Pathol 2009 May 20;40(5):750-5. Epub 2009 Jan 20.

Department of Human Pathology and Oncology, University of Florence, 50134 Florence, Italy.

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http://dx.doi.org/10.1016/j.humpath.2008.09.018DOI Listing
May 2009