Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anna Maria Ciaschini"'
Autor:
Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Background It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis
Externí odkaz:
https://doaj.org/article/35fd16790adc46e8a865fc9511e50a52
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:
Serena Redaelli, Annamaria Montaldi, Francesca Crosti, Marzia Giagnacovo, Maria Paola Recalcati, Chiara Palka, Carlo Ceglia, Lidia Larizza, Caterina Ceccarini, Chiara Rigon, Anna Maria Nardone, Antonio Novelli, Domenico Coviello, Stefania Cappellani, Alessandra Renieri, Anna Maria Ciaschini, Alberta Alghisi, Ilaria Catusi, Daniela Zuccarello, Vanna Pecile, Mariella Tonelli, Paola Granata, Ilaria Bestetti, Ilaria Longo, Giuseppina Marseglia, Nicoletta Villa, Chiara Pessina, Michela Malacarne, Fabiola Tiberi, Chiara Valtorta, Melissa Alfonsi, Anna Zilio, Maria Garzo, Rossella Caselli, Annamaria D'Aprile, Daniela Giardino, Rosario Casalone, Diana Postorivo, Rita Genesio, Antonella Fabretto
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
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 developm
Autor:
Chiara Barone, Rosa Busuito, Laura De Grada, Stefania Cappellani, Daniela Giardino, Vanna Pecile, Ilaria Catusi, Maria Garzo, Ornella Rodeschini, Anna Maria Ciaschini, Lidia Larizza, Anna Gulisano, Elisabetta Malpezzi, Maria Carla Pittalis, Nicola Beltrami, L. Romitti, Sabine Stioui, Maria Paola Recalcati, Daniela Colombo
Publikováno v:
European journal of medical genetics. 63(2)
Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM) is an extremely rare phenomenon, mainly observed in subjects with a normal phenotype accomp
Autor:
Giancarlo Discepoli, Anna Maria Ciaschini, Antonella Pettinari, Maria Valeria Migliori, Francesco Pigliapoco, Paola Piermattei
Publikováno v:
Prenatal Diagnosis. 24:290-292
We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluore
Autor:
Giancarlo Discepoli, Emilio Pannone, Vincenzo Abbasciano, Maria Valeria Migliori, Anna Maria Ciaschini, Maria Barbato
Publikováno v:
Annales de genetique. 45(1)
In the present work, we report on a 2.5-year-old male patient with typical clinical features of partial trisomy of the distal third of chromosome 10 long arm. The karyotype was: 46,XY, dir dup(10)(q25.2-25.3-->qter). The identification of the duplica