Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Giulia A. Cagnoli"'
Autor:
Laura Fontana, Maria F. Bedeschi, Giulia A. Cagnoli, Jole Costanza, Nicola Persico, Silvana Gangi, Matteo Porro, Paola F. Ajmone, Patrizia Colapietro, Carlo Santaniello, Milena Crippa, Silvia M. Sirchia, Monica Miozzo, Silvia Tabano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have
Externí odkaz:
https://doaj.org/article/48c480006d9d43f9a00c6543aa3619d4
Autor:
Giulia Anna Cagnoli, Federica Natacci, Michele Paternò, Gianpaolo Carrafiello, Gianmarco Della Pepa, Silvia Tortora, Andrea Esposito, Claudia Cesaretti
Publikováno v:
Reports in Medical Imaging. 14:41-51
Silvia Tortora,1 Andrea Esposito,2 Gianmarco Della Pepa,1 Michele Paternò,1 Giulia Anna Cagnoli,3 Claudia Cesaretti,3 Federica Natacci,3 Gianpaolo Carrafiello2 1School of Diagnostic and Interventional Radiology, University of Milan, Milan, 20122, It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692948b772f61669817b65b9afbd5e45
https://doi.org/10.2147/rmi.s300065
https://doi.org/10.2147/rmi.s300065
Autor:
Carlo Santaniello, Jole Costanza, Nicola Persico, Giulia Anna Cagnoli, Patrizia Colapietro, Monica Miozzo, Silvia Tabano, Paola Francesca Ajmone, Silvana Gangi, Milena Crippa, Laura Fontana, Silvia M. Sirchia, Maria Francesca Bedeschi, Matteo Porro
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have been dra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e858efd8305a29931d5b39a9c1374f7
https://doi.org/10.1002/mgg3.1386
https://doi.org/10.1002/mgg3.1386
Autor:
Marica Eoli, Federica Natacci, Donatella Bianchessi, Tiziana Langella, Veronica Saletti, Claudia Cesaretti, Maria Cristina Ibba, Giulia Anna Cagnoli, Giulietta Scuvera, Stefania Blasa, Gaetano Finocchiaro, Giulia Melloni, Rosina Paterra
Publikováno v:
Genes, Vol 11, Iss 671, p 671 (2020)
Genes
Volume 11
Issue 6
Genes
Volume 11
Issue 6
Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::220deef3e415c321c225522c14139394
https://www.mdpi.com/2073-4425/11/6/671
https://www.mdpi.com/2073-4425/11/6/671
Autor:
Donatella, Bianchessi, Maria Cristina, Ibba, Veronica, Saletti, Stefania, Blasa, Tiziana, Langella, Rosina, Paterra, Giulia Anna, Cagnoli, Giulia, Melloni, Giulietta, Scuvera, Federica, Natacci, Claudia, Cesaretti, Gaetano, Finocchiaro, Marica, Eoli
Publikováno v:
Genes
Neurofibromatosis type 1 (NF1) displays overlapping phenotypes with other neurocutaneous diseases such as Legius Syndrome. Here, we present results obtained using a next generation sequencing (NGS) panel including NF1, NF2, SPRED1, SMARCB1, and LZTR1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5f2ea6aacefd74ee4ef9f2640c565ae
https://pubmed.ncbi.nlm.nih.gov/32575496
https://pubmed.ncbi.nlm.nih.gov/32575496
Autor:
Roberta Bordoni, Paola Bettinaglio, Carla Schettino, Giulia Anna Cagnoli, Veronica Saletti, Donata Bianchessi, Gaetano Finocchiaro, Marica Eoli, Eleonora Mangano, Claudia Cesaretti, Cristina Battaglia, Marina Melone, Federica Natacci, Viviana Tritto, Paola Riva
Publikováno v:
Neuro Oncol
INTRODUCTION Spinal Neurofibromatosis (SNF), a distinct clinical entity of NF1, characterized by bilateral neurofibromas involving all spinal roots and a few, if any, cutaneous manifestations, entails greater morbidity than the classical form of dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faeb2955a6557380fead8417074ea276
https://doi.org/10.1093/neuonc/noaa215.010
https://doi.org/10.1093/neuonc/noaa215.010
Autor:
Donatella Milani, Marco Baccarin, Enrico Alfei, Susanna Esposito, Silvana Guerneri, Giulia Anna Cagnoli
Publikováno v:
Congenital Anomalies. 56:187-189
Deletions on chromosome 6q are rarely reported in the literature, and genotype-phenotype correlations are poorly understood. We report a child with a deletion of the 6q21-q22 chromosomal region, providing some intriguing results about the correlation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5186d10fe6fc2083d83a2525d332e9b9
https://doi.org/10.1111/cga.12164
https://doi.org/10.1111/cga.12164