Publications by authors named "Lucia Pedace"

20Publications

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

Am J Hum Genet 2019 09 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

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.

J Neurol Neurosurg Psychiatry 2016 11 6;87(11):1263-1265. Epub 2016 May 6.

Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

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http://dx.doi.org/10.1136/jnnp-2015-312646DOI Listing
November 2016

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.

J Neurol Sci 2016 May 2;364:45-9. Epub 2016 Mar 2.

Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.03.001DOI Listing
May 2016

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Am J Med Genet A 2014 Nov 26;164A(11):2938-46. Epub 2014 Aug 26.

Medical Genetics, Department of Molecular Medicine, Sapienza University, S. Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36729DOI Listing
November 2014

Comedonal Darier disease: report of 2 cases.

J Am Acad Dermatol 2013 Dec;69(6):e307-9

Dermatopathology Unit, San Gallicano Dermatological Institute, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaad.2013.08.035DOI Listing
December 2013

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

Cancer Epidemiol 2011 Dec 3;35(6):e116-20. Epub 2011 Sep 3.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.canep.2011.07.007DOI Listing
December 2011

Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.

Eur J Med Genet 2010 May-Jun;53(3):149-52. Epub 2010 Feb 26.

Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.02.005DOI Listing
October 2010

Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.

Am J Med Genet A 2009 Oct;149A(10):2193-9

Experimental Medicine Department, Medical Genetics, Sapienza-University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.32763
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http://dx.doi.org/10.1002/ajmg.a.32763DOI Listing
October 2009

Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.

Cancer Genet Cytogenet 2008 Apr;182(2):130-5

Medical Genetics, Experimental Medicine Department, University of Rome La Sapienza, S. Camillo-Forlanini Hospital, Circ. ne Gianicolense n. 87, 00152 Rome, Italy.

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http://dx.doi.org/10.1016/j.cancergencyto.2008.01.009DOI Listing
April 2008