Andrea Ciolfi

Andrea Ciolfi

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Andrea Ciolfi

Andrea Ciolfi

Publications by authors named "Andrea Ciolfi"

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

POGZ-related epilepsy: Case report and review of the literature.

Am J Med Genet A 2019 Aug 28;179(8):1631-1636. Epub 2019 May 28.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61206
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http://dx.doi.org/10.1002/ajmg.a.61206DOI Listing
August 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 Apr 28;95(4):525-531. Epub 2019 Feb 28.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Immunol Lett 2018 02 24;194:40-43. Epub 2017 Dec 24.

University of Torino, Department of Public Health and Pediatrics, Piazza Polonia 94, Turin, 10126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2017.12.006DOI Listing
February 2018

Integrin α7 Is a Functional Marker and Potential Therapeutic Target in Glioblastoma.

Cell Stem Cell 2017 07 9;21(1):35-50.e9. Epub 2017 Jun 9.

Institute of General Pathology, Università Cattolica del Sacro Cuore and Fondazione Policlinico Universitario A. Gemelli, 00168 Rome, Italy; National Cancer Institute Regina Elena, 00144 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2017.04.009DOI Listing
July 2017

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Brain 2017 06;140(6):e34

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/awx083DOI Listing
June 2017

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Eur J Paediatr Neurol 2017 May 19;21(3):475-484. Epub 2016 Dec 19.

University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.12.005DOI Listing
May 2017

The emerging role of MicroRNA in schizophrenia.

CNS Neurol Disord Drug Targets 2015 ;14(2):208-21

Department of Experimental Medicine Sapienza University of Rome, Viale Regina Elena, 324, 00161 - Rome, Italy.

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November 2015

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

Dynamics of the shade-avoidance response in Arabidopsis.

Plant Physiol 2013 Sep 26;163(1):331-53. Epub 2013 Jul 26.

Institute of Molecular Biology and Pathology, National Research Council, 00185 Rome, Italy.

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http://dx.doi.org/10.1104/pp.113.221549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762654PMC
September 2013

The Arabidopsis homeodomain-leucine zipper II gene family: diversity and redundancy.

Plant Mol Biol 2008 Nov 30;68(4-5):465-78. Epub 2008 Aug 30.

Institute of Molecular Biology and Pathology, National Research Council, Rome, Italy.

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http://dx.doi.org/10.1007/s11103-008-9383-8DOI Listing
November 2008

A novel regulatory circuit underlying plant response to canopy shade.

Plant Signal Behav 2008 Feb;3(2):137-9

Institute of Molecular Biology and Pathology; National Research Council; Rome, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2634005PMC
http://dx.doi.org/10.4161/psb.3.2.5053DOI Listing
February 2008