Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Franca Dagna-Bricarelli"'
Autor:
Nadia Sessarego, Alessia Parodi, Marina Podestà, Federica Benvenuto, Massimo Mogni, Valentina Raviolo, Mario Lituania, Annalisa Kunkl, Guido Ferlazzo, Franca Dagna Bricarelli, Antonio Uccelli, Francesco Frassoni
Publikováno v:
Haematologica, Vol 93, Iss 3 (2008)
Background Mesenchymal stromal cells are multipotent cells considered to be of great promise for use in regenerative medicine. However, the cell dose may be a critical factor in many clinical conditions and the yield resulting from the ex vivo expans
Externí odkaz:
https://doaj.org/article/8d8fde57ceb846b184fbc1199c8c05d0
Autor:
Veronica La Padula, Franca Dagna Bricarelli, Fabia Filipello, Federico Zara, Fabio Benfenati, Fabrizio A. de Falco, Carlo Minetti, Antonio Falace, Davide De Pietri Tonelli, Pasquale Striano, Francesca Madia, Nicola Vanni, Anna Fassio
Publikováno v:
The American Journal of Human Genetics. 87:365-370
Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5868b671737c7e8e55447f1e79011477
https://doi.org/10.1016/j.ajhg.2010.07.020
https://doi.org/10.1016/j.ajhg.2010.07.020
Autor:
Matteo Benelli, Giuseppina Marseglia, Franca Dagna Bricarelli, Genni Nannetti, Federico Zara, Roberta Paravidino, Alberto Magi, Francesca Torricelli
Publikováno v:
Biostatistics. 11:515-518
Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The standard workflow of the aCGH data analysis consists of 2 steps: detecting the boundaries of the regions of changed c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf726fee29f3734728f1c44fe19b4e8a
https://doi.org/10.1093/biostatistics/kxq008
https://doi.org/10.1093/biostatistics/kxq008
Autor:
Marina Grasso, Federica Censi, Domenica Taruscio, Vincenzo Falbo, Marco Salvatore, Anna Ravani, Giovanna Floridia, Fabrizio Tosto, Alessandra Ferlini, Franca Dagna Bricarelli, Maria Antonietta Melis
Publikováno v:
Genetic Testing. 12:279-288
The Italian External Quality Assessment scheme for fragile X syndrome started in 2001 as an activity funded by the National Health System and coordinated by the National Institute of Public Health. The aim of this work is to present the data of 5 yea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c45eddaf81c1f031f144832a7e11e77
https://doi.org/10.1089/gte.2007.0099
https://doi.org/10.1089/gte.2007.0099
Autor:
Mirella Filocamo, Alessandra Renieri, Corrado Angelini, Marina Mora, Peter Schneiderat, Luisa Politano, Stefano Goldwurm, Stephen Lynn, Anne Mary Bodin, Safaa Saker, Yann Lecam, Monica Ensini, David Gurwitz, Hanns Lochmüller, Marco Crimi, Mojgan Reza, Veronika Karcagi, Lucia Monaco, Elena Pegoraro, Alex E. Felice, Kurt Zatloukal, Franca Dagna Bricarelli, C. Baldo, Fabrizia Bignami, Diana Johnson, Maurizio Moggio, Jack Puymirat, Manuel Posada de la Paz, Cécile Jaeger, Giuseppe Merla, Thomas Voit, Francesco Muntoni, Barbara Garavaglia, Jeanne Hélène di Donato, Marija Meznaric
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
European Journal of Human Genetics, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (9), pp.1116-23. ⟨10.1038/ejhg.2014.272⟩
The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71dc068e24d51e59b10ee01a65fa842b
https://hal.science/hal-02881007/document
https://hal.science/hal-02881007/document
Autor:
Cleo L. Bishop, Mamoru Hasegawa, Dean Nizetic, Franca Dagna-Bricarelli, Aoife Murray, Frédérique Sloan-Béna, Trevor G. Smart, David Ballard, Denise Syndercombe Court, Noemi Fusaki, Audrey Letourneau, Robert Abrehart, C. Baldo, Pollyanna Goh, Stefania Gimelli, Saad Hannan, Claudia Canzonetta, Shuhui Lim, Stylianos E. Antonarakis, Martin Mortensen, Jürgen Groet, Elisavet Stathaki
Publikováno v:
Stem Cells, Vol. 33, No 6 (2015) pp. 2077-2084
Stem Cells (Dayton, Ohio)
Murray, A, Letourneau, A, Canzonetta, C, Stathaki, E, Gimelli, S, Sloan-Bena, F, Abrehart, R, Goh, P, Lim, S, Baldo, C, Dagna-Bricarelli, F, Hannan, S, Mortensen, M, Ballard, D, Syndercombe Court, D, Fusaki, N, Hasegawa, M, Smart, T G, Bishop, C, Antonarakis, S E, Groet, J & Nizetic, D 2015, ' Brief report : Isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration ', Stem cells (Dayton, Ohio), vol. 33, no. 6, pp. 2077-2084 . https://doi.org/10.1002/stem.1968
STEM CELLS
Stem Cells (Dayton, Ohio)
Murray, A, Letourneau, A, Canzonetta, C, Stathaki, E, Gimelli, S, Sloan-Bena, F, Abrehart, R, Goh, P, Lim, S, Baldo, C, Dagna-Bricarelli, F, Hannan, S, Mortensen, M, Ballard, D, Syndercombe Court, D, Fusaki, N, Hasegawa, M, Smart, T G, Bishop, C, Antonarakis, S E, Groet, J & Nizetic, D 2015, ' Brief report : Isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration ', Stem cells (Dayton, Ohio), vol. 33, no. 6, pp. 2077-2084 . https://doi.org/10.1002/stem.1968
STEM CELLS
Trisomy 21 (T21), Down Syndrome (DS) is the most common genetic cause of dementia and intellectual disability. Modeling DS is beginning to yield pharmaceutical therapeutic interventions for amelioration of intellectual disability, which are currently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4128002bf440cdf4264b7188ec854fd8
https://archive-ouverte.unige.ch/unige:77369
https://archive-ouverte.unige.ch/unige:77369
Autor:
S Cavani, Claire Mulligan, Suzanne McElwaine, Franca Dagna-Bricarelli, Jürgen Groet, Afua Adjeiwaa Mensah, Andrea Rinaldi, Gareth Denyer, Finbarr E. Cotter, Giuseppe Basso, Ian Hann, Dean Nizetic, C. Baldo, Monica Spinelli
Publikováno v:
British Journal of Haematology. 125:729-742
Transient myeloproliferative disorder (TMD) is a unique, spontaneously regressing neoplasia specific to Down's syndrome (DS), affecting up to 10% of DS neonates. In 20-30% of cases, it reoccurs as progressive acute megakaryoblastic leukaemia (AMKL) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ffc34c11c84e53ce8d0fcca2b6d39e9
https://doi.org/10.1111/j.1365-2141.2004.04982.x
https://doi.org/10.1111/j.1365-2141.2004.04982.x
Autor:
Francesca Madia, Bernardo Dalla Bernardina, Maurizio Viri, Piernanda Vigliano, Margherita Santucci, Maria Luisa Lispi, Annarita Ferrari, Elena Gennaro, Roberto Gaggero, Daniela Buti, Francesca Vanadia, Pierangelo Veggiotti, Amedeo Bianchi, Tiziana Granata, Lucio Giordano, Melania Giannotta, Lorita La Selva, Franca Dagna Bricarelli, Elena Fontana, Massimiliano Cecconi, Maurizio Elia, Federico Zara, Giuseppe Capovilla
Publikováno v:
Epilepsy Research. 53:196-200
Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated α-1 sodium channel subunit—SCN1A—have been identified as a common cause of SMEI. Moreover, a mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34c633471d6606e8a883cfdef6fd37a
https://doi.org/10.1016/s0920-1211(03)00022-6
https://doi.org/10.1016/s0920-1211(03)00022-6
Autor:
Caterina Sferro, Franca Dagna Bricarelli, Roberto Gaggero, Daniela Malamaci, Giuseppe Gobbi, Salvatore Buono, A. Ilter Guney, Amedeo Bianchi, Franco Viri, Federico Vigevano, Michela Malacarne, Bernardo Dalla Bernardina, A. Tiberti, Francesca Vanadia, Francesca Madia, Elena Gennaro, Federico Zara, Maurizio Roccella, G. Melideo, Maria Luisa Lispi, Daniela Vacca, Maria Rosa Vitali
Publikováno v:
Epilepsia. 43:559-562
Summary: Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953b3a29f0836e207167bbfaa270c9d8
https://doi.org/10.1046/j.1528-1157.2002.29301.x
https://doi.org/10.1046/j.1528-1157.2002.29301.x
Autor:
Simona Cavani, Ulf Kristoffersson, Philippos C. Patsalis, Franca Dagna Bricarelli, Ros Hastings
Publikováno v:
European Journal of Human Genetics. 15:525-527
Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21fb7f72256a20be6df834b75b9c946f
https://doi.org/10.1038/sj.ejhg.5201809
https://doi.org/10.1038/sj.ejhg.5201809