Publications by authors named "Marco Di Duca"

36Publications

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

J Rheumatol 2017 Nov 15;44(11):1667-1673. Epub 2017 Sep 15.

From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell'Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L'Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic-Institut d'Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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November 2017

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Pediatr Pulmonol 2014 Mar 4;49(3):E45-7. Epub 2013 Mar 4.

U.O.C. Medical Genetics, Institute Giannina Gaslini, Genova, Italy.

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March 2014

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Mol Genet Metab 2012 Mar 16;105(3):479-83. Epub 2011 Dec 16.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.

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March 2012

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

J Mol Med (Berl) 2011 May 19;89(5):505-13. Epub 2011 Feb 19.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo Gerolamo Gaslini 5, Genoa, Italy.

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May 2011

Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.

J Pharmacol Exp Ther 2009 Sep 2;330(3):783-91. Epub 2009 Jun 2.

Laboratorio di Genetica Molecolare, Istituto Giannna Gaslini, Largo Gerolamo Gaslini 5, 16147 Genova, Italy.

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September 2009

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia.

Mol Cancer Res 2006 Sep;4(9):635-43

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L.go Gerolamo Gaslini, 5, 16148 Genova, Italy.

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September 2006

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Eur J Hum Genet 2004 Feb;12(2):150-4

Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G Gaslini, Largo G Gaslini 5, Genova 16147, Italy.

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February 2004

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Am J Med Genet A 2003 Jul;120A(1):84-7

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G.Gaslini, 16147 Genoa, Italy.

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July 2003

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Hum Genet 2003 Apr 11;112(4):419-25. Epub 2003 Feb 11.

Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G.Gaslini, Largo G. Gaslini, 16147 Genoa, Italy.

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April 2003