Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Laura Pignata"'
Autor:
Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra, Laura Pignata, Flavia Cerrato, Andrea Riccio, Egidio Barbi, Luigi Memo, Laura Travan
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-4 (2023)
Abstract Background Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how t
Externí odkaz:
https://doaj.org/article/32264e6c80954a179266ed8bdc0ac3b4
Autor:
Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of disea
Externí odkaz:
https://doaj.org/article/e9967b43ef824f1aad5e0516a7eb96e9
Autor:
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007780 (2018)
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order
Externí odkaz:
https://doaj.org/article/69ea9822f491409e90114bf9c70d2228
Autor:
Antonietta Liotti, Anne Lise Ferrara, Stefania Loffredo, Maria Rosaria Galdiero, Gilda Varricchi, Francesca Di Rella, Giorgia Teresa Maniscalco, Martina Belardo, Roberta Vastano, Rosaria Prencipe, Laura Pignata, Roberta Romano, Giuseppe Spadaro, Paola de Candia, Antonio Pezone, Veronica De Rosa
Publikováno v:
Immunology. 167:451-470
Epigenetics connects genetic and environmental factors: it includes DNA methylation, histone post-translational modifications and the regulation of chromatin accessibility by non-coding RNAs, all of which control constitutive or inducible gene transc
Autor:
Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Malene Lundsgaard, Laura Pignata, Karen Grønskov, Asuman Z Tumer, Kjeld Schmiegelow, Jesper Sune Brok, Karin A W Wadt
Publikováno v:
Stoltze, U K, Hildonen, M, Hansen, T V O, Foss-Skiftesvik, J, Byrjalsen, A, Lundsgaard, M, Pignata, L, Grønskov, K, Tumer, A Z, Schmiegelow, K, Brok, J S & Wadt, K A W 2023, ' Germline (epi)genetics reveals high predisposition in females : a 5-year, nationwide, prospective Wilms tumour cohort ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108982
Background: Studies suggest that Wilms tumours (WT) are caused by underlying genetic (5%-10%) and epigenetic (2%-29%) mechanisms, yet studies covering both aspects are sparse.Methods: We performed prospective whole-genome sequencing of germline DNA i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a1ba43d3f730b43d1c0cda88fb5d16
https://vbn.aau.dk/da/publications/fd07e57e-1ff3-4d35-988f-acaaa74ae55c
https://vbn.aau.dk/da/publications/fd07e57e-1ff3-4d35-988f-acaaa74ae55c
Autor:
Maria Luca, Diana Carli, Simona Cardaropoli, Donatella Milani, Guido Cocchi, Chiara Leoni, Marina Macchiaiolo, Andrea Bartuli, Luigi Tarani, Daniela Melis, Piera Bontempo, Gemma D’Elia, Elisabetta Prada, Raffaele Vitale, Angelina Grammegna, Pierpaola Tannorella, Angela Sparago, Laura Pignata, Andrea Riccio, Silvia Russo, Giovanni Battista Ferrero, Alessandro Mussa
Publikováno v:
Cancers
Volume 15
Issue 3
Pages: 773
Volume 15
Issue 3
Pages: 773
Different scoring systems for the clinical diagnosis of the Beckwith-Wiedemann spectrum (BWSp) have been developed over time, the most recent being the international consensus score. Here we try to validate and provide data on the performance metrics
Autor:
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D’Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Publikováno v:
Cancers; Volume 15; Issue 7; Pages: 1944
CRC is an adult-onset carcinoma representing the third most common cancer and the second leading cause of cancer-related deaths in the world. EO-CRC (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f5ddeebdbdae19d24692940e2f5c096
https://hdl.handle.net/11591/497889
https://hdl.handle.net/11591/497889
Autor:
Francesco Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D’Elia, Francesco Cecere, Fabio Acquaviva, Daniele De Brasi, Antonio Novelli, Andrea Riccio, Achille Iolascon, Flavia Cerrato
Publikováno v:
Genes; Volume 13; Issue 10; Pages: 1875
Silver–Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci. In the majority of cases, the molecular defect is the loss
Autor:
Diana Carli, Matteo Operti, Silvia Russo, Guido Cocchi, Donatella Milani, Chiara Leoni, Elisabetta Prada, Daniela Melis, Mariateresa Falco, Jennifer Spina, Vera Uliana, Osimani Sara, Fabio Sirchia, Luigi Tarani, Marina Macchiaiolo, Flavia Cerrato, Angela Sparago, Laura Pignata, Pierpaola Tannorella, Simona Cardaropoli, Andrea Bartuli, Andrea Riccio, Giovanni Battista Ferrero, Alessandro Mussa
The prevalence of Beckwith-Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART-BWSp patients reported so far display imprinting center 2 loss-of-methylations (IC2-L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb4220b06cc05cb8cebfc9ddcdef6a00
http://hdl.handle.net/11591/480729
http://hdl.handle.net/11591/480729
Autor:
Angela Sparago, Livia Garavelli, Carmelo Piscopo, Francisco Cammarata-Scalisi, Andrea Riccio, Flavia Cerrato, Alessandra Vancini, Laura Pignata
Publikováno v:
Genes, Vol 12, Iss 706, p 706 (2021)
Genes
Genes (Basel) 12 (2021). doi:10.3390/genes12050706
info:cnr-pdr/source/autori:Sparago A.; Cerrato F.; Pignata L.; Cammarata-Scalisi F.; Garavelli L.; Piscopo C.; Vancini A.; Riccio A./titolo:Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c/doi:10.3390%2Fgenes12050706/rivista:Genes (Basel)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:12
Genes
Genes (Basel) 12 (2021). doi:10.3390/genes12050706
info:cnr-pdr/source/autori:Sparago A.; Cerrato F.; Pignata L.; Cammarata-Scalisi F.; Garavelli L.; Piscopo C.; Vancini A.; Riccio A./titolo:Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c/doi:10.3390%2Fgenes12050706/rivista:Genes (Basel)/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:12
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition. CDKN1C is a maternally expressed gene of the 11p15.5 chromosomal region