Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Annalisa Frattini"'
Autor:
Maddalena Di Nardo, Simonetta Astigiano, Silvia Baldari, Maria Michela Pallotta, Giovanni Porta, Simona Pigozzi, Annalisa Antonini, Laura Emionite, Annalisa Frattini, Roberto Valli, Gabriele Toietta, Silvia Soddu, Antonio Musio
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 43, Iss 1, Pp 1-13 (2024)
Abstract Background SMC1A is a subunit of the cohesin complex that participates in many DNA- and chromosome-related biological processes. Previous studies have established that SMC1A is involved in cancer development and in particular, is overexpress
Externí odkaz:
https://doaj.org/article/1d93f6b1d4f7484da2cd34effd3e7fc0
Autor:
Giovanni Micheloni, Annalisa Frattini, Marta Donini, Stefano Dusi, Anna Leszl, Annamaria Di Meglio, Martina Pigazzi, Antonio Musio, Marco Zecca, Tommaso Mina, Marco Rabusin, Pamela Roccia, Paolo Bernasconi, Irene Dambruoso, Antonella Minelli, Giuseppe Montalbano, Francesco Acquati, Giovanni Porta, Roberto Valli, Francesco Pasquali
Publikováno v:
Genes, Vol 14, Iss 11, p 2085 (2023)
The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two years later, he developed AML, which was unexpected and was recognized v
Externí odkaz:
https://doaj.org/article/52a2fdb6d4df43c4942f59643205d939
Autor:
Abdul Waheed Khan, Alyssa Kennedy, Elissa Furutani, Kasiani Myers, Annalisa Frattini, Francesco Acquati, Pamela Roccia, Giovanni Micheloni, Antonella Minelli, Giovanni Porta, Marco Cipolli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Akiko Shimamura, Roberto Valli
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome
Externí odkaz:
https://doaj.org/article/3fc874865da740418e5b38c9fe52d387
Autor:
Ibrahim Taha, Selena Foroni, Roberto Valli, Annalisa Frattini, Pamela Roccia, Giovanni Porta, Marco Zecca, Elena Bergami, Marco Cipolli, Francesco Pasquali, Cesare Danesino, Claudia Scotti, Antonella Minelli
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90%
Externí odkaz:
https://doaj.org/article/e38c4f61baaf49bdb08f06050e0d36c4
Autor:
Alberto L’Abbate, Vittoria Moretti, Ester Pungolino, Giovanni Micheloni, Roberto Valli, Annalisa Frattini, Matteo Barcella, Francesco Acquati, Rolland A Reinbold, Lucy Costantino, Fulvio Ferrara, Alessandra Trojani, Mario Ventura, Giovanni Porta, Roberto Cairoli
Publikováno v:
Genes, Vol 14, Iss 7, p 1351 (2023)
Chronic myeloid leukemia (CML) is a rare myeloproliferative disorder caused by the reciprocal translocation t(9;22)(q34;q11) in hematopoietic stem cells (HSCs). This chromosomal translocation results in the formation of an extra-short chromosome 22,
Externí odkaz:
https://doaj.org/article/9498a4dc5adf421394c2baec127f0db2
Autor:
Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Danesino, Franco Locatelli, Emanuela Maserati, Francesco Pasquali, Roberto Valli
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-9 (2020)
Abstract Background Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10), and an interstitial
Externí odkaz:
https://doaj.org/article/f3bc050564244f20b7a6bcde606e1c8f
Autor:
Annalisa Frattini, Simona Bolamperti, Roberto Valli, Marco Cipolli, Rita Maria Pinto, Elena Bergami, Maria Rita Frau, Simone Cesaro, Michela Signo, Valentino Bezzerri, Giovanni Porta, Abdul Waheed Khan, Alessandro Rubinacci, Isabella Villa
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 24, p 13331 (2021)
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, caused by loss-of-function mutations in the SBDS gene, a factor involved in
Externí odkaz:
https://doaj.org/article/b992467bcb484bd4ab9d133b03bdf2c5
Autor:
Stefano Barone, Patrizia Sarogni, Roberto Valli, Maria Michela Pallotta, Gazzi Silvia, Annalisa Frattini, Abdul Waheed Khan, Erika Rapalini, Cristiana Parri, Antonio Musio
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 6, p 1934 (2020)
The growing trend for women to postpone childbearing has resulted in a dramatic increase in the incidence of aneuploid pregnancies. Despite the importance to human reproductive health, the events precipitating female age-related meiotic errors are po
Externí odkaz:
https://doaj.org/article/dc69821ee7ba4e95a3bfaefff680ad49
Autor:
Cairoli, Alberto L’Abbate, Vittoria Moretti, Ester Pungolino, Giovanni Micheloni, Roberto Valli, Annalisa Frattini, Matteo Barcella, Francesco Acquati, Rolland A Reinbold, Lucy Costantino, Fulvio Ferrara, Alessandra Trojani, Mario Ventura, Giovanni Porta, Roberto
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1351
Chronic myeloid leukemia (CML) is a rare myeloproliferative disorder caused by the reciprocal translocation t(9;22)(q34;q11) in hematopoietic stem cells (HSCs). This chromosomal translocation results in the formation of an extra-short chromosome 22,
Autor:
Giovanni Porta, Marco Fabbri, Emanuela Maserati, Marco Zecca, Giuseppe Montalbano, Marco Cipolli, Antonella Minelli, Roberto Valli, Cesare Danesino, Rita Maria Pinto, Abdul Waheed Khan, Francesco Pasquali, Alessia Bogni, Simone Cesaro, Annalisa Frattini, Elena Bergami, Franco Locatelli, Anna Pegoraro, R. Mura, Francesco Acquati
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-9 (2020)
Molecular Cytogenetics
Molecular Cytogenetics
Background Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10), and an interstitial deletion