Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Autor: Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio

Publikováno v: Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-15 (2020)

Abstract Background For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outs

Externí odkaz: https://doaj.org/article/59147f98fbb844a99a8ff42581d76f3a

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Autor: Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Alessandra Ferlini

Publikováno v: Frontiers in Genetics, Vol 9 (2019)

Only a few genes involved in teeth development and morphology are known to be responsible for tooth abnormalities in Mendelian-inherited diseases. We studied an inbred family of Pakistani origin in which two first-cousin born brothers are affected by

Externí odkaz: https://doaj.org/article/8cca511bd15c49fc80252eb81cd72c0d

Rare pathogenic copy number variation in the 16p11.2 (BP4–BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature

Autor: Goran Cuturilo, Jeanne Wolstencroft, Natália Oliva-Teles, Adrian J. Harwood, David Skuse, Yllka Kodra, Severin Rakic, Silvana Markovska-Simoska, Louise Gallagher, Maria Chiara de Stefano, Paula Jorge, Isabella Borg, Zeynep Tümer

Publikováno v: Oliva-Teles, N, de Stefano, M C, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, A J, Kodra, Y & Skuse, D 2020, ' Rare pathogenic copy number variation in the 16p11.2 (bp4–bp5) region associated with neurodevelopmental and neuropsychiatric disorders : A review of the literature ', International Journal of Environmental Research and Public Health, vol. 17, no. 24, 9253, pp. 1-16 . https://doi.org/10.3390/ijerph17249253
International Journal of Environmental Research and Public Health
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
International Journal of Environmental Research and Public Health, Vol 17, Iss 9253, p 9253 (2020)

Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4-BP5) harbours both deletions and duplications that are associated in carriers with n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc8847ed8838c41fbc243fab338ac11
https://orca.cardiff.ac.uk/id/eprint/137241/1/RARE-P~1.PDF

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

Autor: Maria Chiara, de Stefano, Giovanna, Floridia, Federica, Censi, Fabrizio, Tosto, Marco, Salvatore, Alessandro, Civolani, Barbara, Crescenzi, Daniela, Giardino, Elisabetta, Lenzini, Ermanna, Lisi, Fortunato, Lonardo, Marco, Mancini, Antonio, Novelli, Giuseppe, Piombo, Sabine, Stioui, Domenica, Taruscio

Publikováno v: Annali dell'Istituto superiore di sanita. 54(2)

Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db2a9fc6217525fdec81913714f6ef4b
https://pubmed.ncbi.nlm.nih.gov/29916415

Biochemical Characterization of Sirtuin 6 in the Brain and Its Involvement in Oxidative Stress Response

Autor: Enrico Garaci, Maria Chiara de Stefano, Cristiana Mollinari, Alessio Cardinale, Mauro Racaniello, Daniela Merlo

Publikováno v: Neurochemical research (2015). doi:10.1007/s11064-014-1465-1
info:cnr-pdr/source/autori:Cardinale A.; De Stefano M.C.; Mollinari C.; Racaniello M.; Garaci E.; Merlo D./titolo:Biochemical Characterization of Sirtuin 6 in the Brain and Its Involvement in Oxidative Stress Response/doi:10.1007%2Fs11064-014-1465-1/rivista:Neurochemical research/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume

Sirtuin 6 (SIRT6) is a member of nicotinamide adenine dinucleotide-dependent deacetylase protein family and has been implicated in the control of glucose and lipid metabolism, cancer, genomic stability and DNA repair. Moreover, SIRT6 regulates the ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8748102759e6b975ba07441cd435c8
https://doi.org/10.1007/s11064-014-1465-1