Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Fusco, Francesca"'
Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.
Autor:
Pescatore A; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy., Spinosa E; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy., Casale C; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy., Lioi MB; Department of Science, University of Basilicata, Viale dell'Ateneo Lucano, 85100 Potenza, Italy., Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy., Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Jan 21; Vol. 23 (3). Date of Electronic Publication: 2022 Jan 21.
Autor:
Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, 80131, Italy., Pescatore A; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, 80131, Italy., Steffann J; Université Paris Descartes-Sorbonne Paris Cité, Imagine INSERM UMR1163, Service de Génétique Moléculaire, Hopital Necker-Enfants Malades, AP-HP, Paris, France., Bonnefont JP; Université Paris Descartes-Sorbonne Paris Cité, Imagine INSERM UMR1163, Service de Génétique Moléculaire, Hopital Necker-Enfants Malades, AP-HP, Paris, France., De Oliveira J; Université Paris Descartes-Sorbonne Paris Cité, Imagine INSERM UMR1163, Service de Génétique Moléculaire, Hopital Necker-Enfants Malades, AP-HP, Paris, France., Lioi MB; Department of Science, University of Basilicata, Potenza, 85100, Italy., Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, 80131, Italy. matildevaleria.ursini@igb.cnr.it.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Dec; Vol. 27 (12), pp. 1894-1900. Date of Electronic Publication: 2019 Jul 09.
Autor:
Fusco F; Institute of Genetics and Biophysics 'A. Buzzati Traverso' CNR, 80131, Naples, Italy., Valente V; Institute of Genetics and Biophysics 'A. Buzzati Traverso' CNR, 80131, Naples, Italy., Fergola D; Institute of Genetics and Biophysics 'A. Buzzati Traverso' CNR, 80131, Naples, Italy., Pescatore A; Institute of Genetics and Biophysics 'A. Buzzati Traverso' CNR, 80131, Naples, Italy., Lioi MB; University of Basilicata, 85100, Potenza, Italy., Ursini MV; Institute of Genetics and Biophysics 'A. Buzzati Traverso' CNR, 80131, Naples, Italy. matildevaleria.ursini@igb.cnr.it.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Oct; Vol. 27 (10), pp. 1509-1518. Date of Electronic Publication: 2019 Jun 23.
Autor:
Pizzamiglio MR; a Neuropsychology Unit, IRCCS , Santa Lucia Hospital , Rome , Italy., Piccardi L; a Neuropsychology Unit, IRCCS , Santa Lucia Hospital , Rome , Italy.; b Life, Health and Environmental Science Department , University of L'Aquila , L'Aquila , Italy., Bianchini F; c Psychology Department , Sapienza University , Rome , Italy., Canzano L; a Neuropsychology Unit, IRCCS , Santa Lucia Hospital , Rome , Italy.; c Psychology Department , Sapienza University , Rome , Italy., Palermo L; d School of Life & Health Sciences , Aston University , Birmingham , United Kingdom., Fusco F; e Institute of Genetics and Biophysics 'Adriano Buzzati Traverso,' Naples , Italy., D'Antuono G; a Neuropsychology Unit, IRCCS , Santa Lucia Hospital , Rome , Italy., Gelmini C; f Clinical Genetics Unit, Obstetrics and Pediatric Department , Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova Hospital , Reggio Emilia , Italy., Garavelli L; f Clinical Genetics Unit, Obstetrics and Pediatric Department , Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova Hospital , Reggio Emilia , Italy., Ursini MV; e Institute of Genetics and Biophysics 'Adriano Buzzati Traverso,' Naples , Italy.
Publikováno v:
Applied neuropsychology. Child [Appl Neuropsychol Child] 2017 Oct-Dec; Vol. 6 (4), pp. 327-334. Date of Electronic Publication: 2016 Jun 07.
Autor:
Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR, Naples, Italy., Conte MI; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR, Naples, Italy., Diociaiuti A; Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy; and., Bigoni S; Unità Operativa Logistica of Medical Genetics, Ferrara University Hospital, Ferrara, Italy., Branda MF; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR, Naples, Italy., Ferlini A; Unità Operativa Logistica of Medical Genetics, Ferrara University Hospital, Ferrara, Italy., El Hachem M; Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy; and., Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR, Naples, Italy; matildevaleria.ursini@igb.cnr.it.
Publikováno v:
Pediatrics [Pediatrics] 2017 Sep; Vol. 140 (3). Date of Electronic Publication: 2017 Aug 09.
Autor:
Fusco F; a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy., Pescatore A; a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy., Conte MI; a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy., Mirabelli P; b Fondazione SDN IRCCS , Naples , Italy., Paciolla M; a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy.; c University of Basilicata , Potenza , Italy., Esposito E; a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy., Lioi MB; c University of Basilicata , Potenza , Italy., Ursini MV; a Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' , IGB-CNR, Naples , Italy.; b Fondazione SDN IRCCS , Naples , Italy.
Publikováno v:
International reviews of immunology [Int Rev Immunol] 2015; Vol. 34 (6), pp. 445-59. Date of Electronic Publication: 2015 Aug 13.
Autor:
Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, Italy. francesca.fusco@igb.cnr.it., Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, Lioi MB, Ursini MV
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Jun 24; Vol. 9, pp. 93. Date of Electronic Publication: 2014 Jun 24.
Autor:
Conte MI; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, Italy., Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV
Publikováno v:
Human mutation [Hum Mutat] 2014 Feb; Vol. 35 (2), pp. 165-77. Date of Electronic Publication: 2013 Dec 12.
Autor:
Pizzamiglio MR; IRCCS, Santa Lucia Foundation, Rome, Italy., Piccardi L; IRCCS, Santa Lucia Foundation, Rome, Italy ; Life, Health and Environmental Science Department, University of L'Aquila, L'Aquila, Italy., Bianchini F; IRCCS, Santa Lucia Foundation, Rome, Italy ; Psychology Department, Sapienza University, Rome, Italy., Canzano L; IRCCS, Santa Lucia Foundation, Rome, Italy ; Psychology Department, Sapienza University, Rome, Italy., Palermo L; IRCCS, Santa Lucia Foundation, Rome, Italy ; Psychology Department, Sapienza University, Rome, Italy., Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati Traverso', Naples, Italy., D'Antuono G; IRCCS, Santa Lucia Foundation, Rome, Italy., Gelmini C; Clinical Genetics Unit, Obstetrics and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova Hospital, Reggio Emilia, Italy., Garavelli L; Clinical Genetics Unit, Obstetrics and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova Hospital, Reggio Emilia, Italy., Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati Traverso', Naples, Italy ; Fondazione IRCCS SDN, Naples, Italy.
Publikováno v:
PloS one [PLoS One] 2014 Jan 29; Vol. 9 (1), pp. e87771. Date of Electronic Publication: 2014 Jan 29 (Print Publication: 2014).
Autor:
Fusco F; Institute of Genetics and Biophysics Adriano Buzzati-Traverso, IGB-CNR, Naples, Italy., Pescatore A, Steffann J, Royer G, Bonnefont JP, Ursini MV
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jul; Vol. 21 (7). Date of Electronic Publication: 2012 Oct 10.