Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Francesca Crosti"'
Autor:
Serena Redaelli, Francesca Romana Grati, Viviana Tritto, Giuliana Giannuzzi, Maria Paola Recalcati, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Francesca Malvestiti, Valentina Zanatta, Elena Repetti, Ornella Rodeschini, Chiara Valtorta, Ilaria Catusi, Lorenza Romitti, Emanuela Martinoli, Donatella Conconi, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Angela Bentivegna
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100261- (2024)
Summary: The largest multi-gene family in metazoans is the family of olfactory receptor (OR) genes. Human ORs are organized in clusters over most chromosomes and seem to include >0.1% the human genome. Because 369 out of 856 OR genes are mapped on ch
Externí odkaz:
https://doaj.org/article/38847ef173984780a4e4377e6cee1813
Autor:
Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi
Publikováno v:
Diagnostics, Vol 14, Iss 16, p 1732 (2024)
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of
Externí odkaz:
https://doaj.org/article/c031c65a76c2436a9035a1f83c32f7d4
Autor:
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 11, p 5912 (2022)
KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a mu
Externí odkaz:
https://doaj.org/article/283499ec5e6348c79847835d939d0fa1
Autor:
Serena Redaelli, Donatella Conconi, Elena Sala, Nicoletta Villa, Francesca Crosti, Gaia Roversi, Ilaria Catusi, Chiara Valtorta, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Angela Bentivegna
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 6, p 3347 (2022)
Improvements in microarray-based comparative genomic hybridization technology have allowed for high-resolution detection of genome wide copy number alterations, leading to a better definition of rearrangements and supporting the study of pathogenesis
Externí odkaz:
https://doaj.org/article/2ff85be3c6e3425ebbab97e93e9ebfde
Autor:
Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of
Externí odkaz:
https://doaj.org/article/dcd2b41af7c54fef9ac5273be374d880
Autor:
Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano, Gaia Roversi
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis. Case presentation We described two families with copy number gain
Externí odkaz:
https://doaj.org/article/b346f44081f34de98006d036bbd1bbb0
Autor:
Lucia Cococcioni, Susanna Paccagnini, Elena Pozzi, Luigina Spaccini, Elisa Cattaneo, Serena Redaelli, Francesca Crosti, Gian Vincenzo Zuccotti
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-5 (2018)
Abstract Background Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. Case presentation We report the case of a child that presented chronic constipation, encopresis and mycrocephaly
Externí odkaz:
https://doaj.org/article/967dbd6d298f4162a31fdc9690135e6d
Autor:
Nicoletta Villa, Serena Redaelli, Elena Sala, Donatella Conconi, Lorenza Romitti, Emanuela Manfredini, Francesca Crosti, Gaia Roversi, Marialuisa Lavitrano, Ornella Rodeschini, Maria Paola Recalcati, Rocco Piazza, Leda Dalprà, Paola Riva, Angela Bentivegna
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5637 (2021)
The presence of thousands of repetitive sequences makes the centromere a fragile region subject to breakage. In this study we collected 31 cases of rearrangements of chromosome 18, of which 16 involved an acrocentric chromosome, during genetic screen
Externí odkaz:
https://doaj.org/article/d09fb230d4a94bafb5cb0fc43a881330
Autor:
Serena Redaelli, Donatella Conconi, Nicoletta Villa, Elena Sala, Francesca Crosti, Cecilia Corti, Ilaria Catusi, Maria Garzo, Lorenza Romitti, Emanuela Martinoli, Antonella Patrizi, Roberta Malgara, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Gaia Roversi, Angela Bentivegna
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 10, p 3431 (2020)
Satellited non-acrocentric autosomal chromosomes (ps–qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be
Externí odkaz:
https://doaj.org/article/5c400ef862de4d90b32ca6dc0632cc04
Autor:
Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà, Gaia Roversi, Angela Bentivegna
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 5, p 1095 (2019)
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombin
Externí odkaz:
https://doaj.org/article/c1d32a2918ce4a3e8c819604aea03493