Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Antonella Turchiano"'
Autor:
Stefania Martino, Pietro D’Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Marco Tartaglia, Graziano Pesole, Nicoletta Resta
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9637 (2024)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in 200,000 live births. MADD has three clinical phenotypes: severe neonatal-onset with or with
Externí odkaz:
https://doaj.org/article/ee4504835bc64bde8310e3fc88be97d4
Autor:
Antonella Turchiano, Marilidia Piglionica, Stefania Martino, Rosanna Bagnulo, Antonella Garganese, Annunziata De Luisi, Stefania Chirulli, Matteo Iacoviello, Michele Stasi, Ornella Tabaku, Eleonora Meneleo, Martina Capurso, Silvia Crocetta, Simone Lattarulo, Yevheniia Krylovska, Patrizia Lastella, Cinzia Forleo, Alessandro Stella, Nenad Bukvic, Cristiano Simone, Nicoletta Resta
Publikováno v:
Genes, Vol 14, Iss 8, p 1530 (2023)
Breast cancer (BC) is the most common cancer and the leading cause of cancer death in women worldwide. Since the discovery of the highly penetrant susceptibility genes BRCA1 and BRCA2, many other predisposition genes that confer a moderate risk of BC
Externí odkaz:
https://doaj.org/article/d062736c3c07428fbfe92390d0b9f52e
Autor:
Antonella Turchiano, Daria Carmela Loconte, Rosalba De Nola, Francesca Arezzo, Giulia Chiarello, Antonino Pantaleo, Matteo Iacoviello, Rosanna Bagnulo, Annunziata De Luisi, Sonia Perrelli, Stefania Martino, Carlotta Ranieri, Antonella Garganese, Alessandro Stella, Cinzia Forleo, Vera Loizzi, Marco Marinaccio, Ettore Cicinelli, Gennaro Cormio, Nicoletta Resta
Publikováno v:
Cancers, Vol 14, Iss 2, p 365 (2022)
Background: Pathogenic variants in homologous recombination repair (HRR) genes other than BRCA1/2 have been associated with a high risk of ovarian cancer (OC). In current clinical practice, genetic testing is generally limited to BRCA1/2. Herein, we
Externí odkaz:
https://doaj.org/article/b86edfeb9f6344f797a86c7b64d73e99
Autor:
Alessandro Mussa, Antonella Turchiano, Simona Cardaropoli, Paola Coppo, Antonino Pantaleo, Rosanna Bagnulo, Carlotta Ranieri, Matteo Iacoviello, Antonella Garganese, Alessandro Stella, Stefano Gabriele Vallero, Daniele Bertin, Federica Santoro, Diana Carli, Giovanni Battista Ferrero, Nicoletta Resta
Publikováno v:
Genes, chromosomescancer. 61(11)
Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented molecular alterations in LOs mostly consist of somatic variants in genes of the PI3KCA/AKT/mTOR pa
Autor:
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta
Publikováno v:
Journal of medical genetics.
BackgroundPostzygotic activatingPIK3CAvariants cause several phenotypes within thePIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heteroge
Autor:
Romina Ficarella, Carlotta Ranieri, Antonella Turchiano, Martina Lepore Signorile, Valentina Grossi, Mattia Gentile, Cristiano Simone, Gabriele Scalzo, Giovanna Maria Ventola, Nicoletta Resta, Daria Carmela Loconte, Francesco Susca, Paolo Volpe, Angela Cordella, Emanuela Ponzi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad76dd487cb49b505208cc3413523c00
https://doi.org/10.1111/cge.13890/v2/response1
https://doi.org/10.1111/cge.13890/v2/response1
Autor:
Paolo Volpe, Mattia Gentile, Gabriele Scalzo, Angela Cordella, Giovanna Maria Ventola, Carlotta Ranieri, Antonella Turchiano, Daria Carmela Loconte, Francesco Susca, Martina Lepore Signorile, Cristiano Simone, Nicoletta Resta, Valentina Grossi, Romina Ficarella, Emanuela Ponzi
Publikováno v:
Clinical geneticsREFERENCES. 99(3)
mTOR dysregulation has been described in pathological conditions, such as cardiovascular and overgrowth disorders. Here we report on the first case of a patient with a complex congenital heart disease and an interstitial duplication in the short arm
Autor:
Clelia Tiziana Storlazzi, Giulia Daniele, Antonella Turchiano, Crocifissa Lo Cunsolo, María Hernández-Sánchez, Patrizia Leone, P. Iuzzolino, Angelo Lonoce, Carla Minoia, Orazio Palumbo, Massimo Carella, Jesús María Hernández-Rivas, Alberto L'Abbate
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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The identification of chromosome 1 translocations and deletions is a rare and poorly investigated event in chronic lymphocytic leukemia (CLL). Nevertheless, the identification of novel additional molecular alterations is of great interest, opening to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21c2e9e12047cbba144e411752e6f4c2
http://hdl.handle.net/10261/202827
http://hdl.handle.net/10261/202827
Autor:
Clelia Tiziana Storlazzi, Nadine Van Roy, Lars Bullinger, Gianluca De Bellis, Angelo Lonoce, Massimo Carella, Marco Severgnini, Antonella Turchiano, Mariella Pafundi, Doron Tolomeo, Anna Dolnik, Alberto L'Abbate, Jacqueline Schoumans, Dominique Muehlematter, Bartolomeo Augello, Giuseppe Merla, Ingrid Cifola, Giovanni Martinelli, Debora Traversa, Claudia Haferlach, Giulia Daniele, Orazio Palumbo, Pietro D'Addabbo, Gabriella Maria Squeo
Publikováno v:
Leukemia, vol. 32, no. 10, pp. 2152-2166
Leukemia (2017).
info:cnr-pdr/source/autori:A ?Abbate, D Tolomeo, I Cifola, M Severgnini, A Turchiano, B Augello, G Squeo, P D´Addabbo, D Traversa, G Daniele, A Lonoce, M Pafundi, M Carella, O Palumbo, A Dolnik, D Muehlematter, J Schoumans, N Van Roy, G De Bellis, G Martinelli, G Merla, L Bullinger, C Haferlach & C T Storlazzi/titolo:MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences/doi:/rivista:Leukemia/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume
Leukemia (2017).
info:cnr-pdr/source/autori:A ?Abbate, D Tolomeo, I Cifola, M Severgnini, A Turchiano, B Augello, G Squeo, P D´Addabbo, D Traversa, G Daniele, A Lonoce, M Pafundi, M Carella, O Palumbo, A Dolnik, D Muehlematter, J Schoumans, N Van Roy, G De Bellis, G Martinelli, G Merla, L Bullinger, C Haferlach & C T Storlazzi/titolo:MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences/doi:/rivista:Leukemia/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume
Double minutes (dmin), homogeneously staining regions, and ring chromosomes are vehicles of gene amplification in cancer. The underlying mechanism leading to their formation as well as their structure and function in acute myeloid leukemia (AML) rema
Autor:
Clelia Tiziana Storlazzi, Dominique Muehlematter, Doron Tolomeo, Bartolomeo Augello, Massimo Carella, Gabriella Maria Squeo, Alberto L'Abbate, Pietro D'Addabbo, Giuseppe Merla, Claudia Haferlach, Antonella Turchiano, Anna Dolnik, Nadine Van Roy, Ingrid Cifola, Lars Bullinger, Gianluca De Bellis, Marco Severgnini, Orazio Palumbo, Debora Traversa, Angelo Lonoce, Giovanni Martinelli, Jacqueline Schoumans, Mariella Pafundi, Giulia Daniele
Publikováno v:
Leukemia
Double minutes (dmin), homogeneously staining regions, and ring chromosomes are vehicles of gene amplification in cancer. The underlying mechanism leading to their formation as well as their structure and function in acute myeloid leukemia (AML) rema