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1
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Alari, Valentina ; Russo, Silvia ; Terragni, Benedetta ; Ajmone, Paola Francesca ; Sironi, Alessandra ; Catusi, Ilaria ; Calzari, Luciano ; Concolino, Daniela ; Marotta, Rosa ; Milani, Donatella ; Giardino, Daniela ; Mantegazza, Massimo ; Gervasini, Cristina ; Finelli, Palma ; Larizza, Lidia ; laredo, cecile

Stem cell research, 2018-07, Vol.30, p.130-140 [Rivista Peer Reviewed]

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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Cirello, Valentina ; Giorgini, Valentina ; Castronovo, Chiara ; Marelli, Susan ; Mainini, Ester ; Sironi, Alessandra ; Recalcati, Maria Paola ; Pessina, Marco ; Giardino, Daniela ; Larizza, Lidia ; Persani, Luca ; Finelli, Palma ; Russo, Silvia ; Fugazzola, Laura

Frontiers in genetics, 2018, Vol.9, p.600 [Rivista Peer Reviewed]

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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Gervasini, Cristina ; Picinelli, Chiara ; Azzollini, Jacopo ; Rusconi, Daniela ; Masciadri, Maura ; Cereda, Anna ; Marzocchi, Cinzia ; Zampino, Giuseppe ; Selicorni, Angelo ; Tenconi, Romano ; Russo, Silvia ; Larizza, Lidia ; Finelli, Palma

BMC medical genetics, 2013-04-03, Vol.14 (1), p.41-41 [Rivista Peer Reviewed]

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New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
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New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

Crippa, Milena ; Bestetti, Ilaria ; Perotti, Mario ; Castronovo, Chiara ; Tabano, Silvia ; Picinelli, Chiara ; Grassi, Guido ; Larizza, Lidia ; Pincelli, Angela Ida ; Finelli, Palma

BMC medical genetics, 2014-05-02, Vol.15 (1), p.52-52 [Rivista Peer Reviewed]

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5
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

Giardino, Daniela ; Vignoli, Aglaia ; Ballarati, Lucia ; Recalcati, Maria Paola ; Russo, Silvia ; Camporeale, Nicole ; Marchi, Margherita ; Finelli, Palma ; Accorsi, Patrizia ; Giordano, Lucio ; La Briola, Francesca ; Chiesa, Valentina ; Canevini, Maria Paola ; Larizza, Lidia

BMC medical genetics, 2010-10-12, Vol.11 (1), p.146-146 [Rivista Peer Reviewed]

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6
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
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Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Finelli, Palma ; Sirchia, Silvia Maria ; Masciadri, Maura ; Crippa, Milena ; Recalcati, Maria Paola ; Rusconi, Daniela ; Giardino, Daniela ; Monti, Laura ; Cogliati, Francesca ; Faravelli, Francesca ; Natacci, Federica ; Zoccante, Leonardo ; Bernardina, Bernardo Dalla ; Russo, Silvia ; Larizza, Lidia

Molecular cytogenetics, 2012-04-04, Vol.5 (1), p.16-16 [Rivista Peer Reviewed]

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SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case
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SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

Frigerio, Marcello ; Passeri, Elena ; de Filippis, Tiziana ; Rusconi, Daniela ; Valaperta, Rea ; Carminati, Mario ; Donnangelo, Anita ; Costa, Elena ; Persani, Luca ; Finelli, Palma ; Corbetta, Sabrina

BMC medical genetics, 2011-05-05, Vol.12 (1), p.61-61 [Rivista Peer Reviewed]

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Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency
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Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

Rossetti, Raffaella ; Ferrari, Ilaria ; Bestetti, Ilaria ; Moleri, Silvia ; Brancati, Francesco ; Petrone, Luisa ; Finelli, Palma ; Persani, Luca

Human mutation, 2020, Vol.41 (5), p.983-997 [Rivista Peer Reviewed]

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9
High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy
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High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomy

Giovanna Maria Pierantoni ; Palma Finelli ; Emanuele Valtorta ; Daniela Giardino ; Ornella Rodeschini ; Francesco Esposito ; Marco Losa ; Alfredo Fusco ; Lidia Larizza

Endocrine-Related Cancer, 2005-12-01, Vol.12 (4), p.867-874 [Rivista Peer Reviewed]

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10
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
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Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

Castronovo, Chiara ; Valtorta, Emanuele ; Crippa, Milena ; Tedoldi, Sara ; Romitti, Lorenza ; Amione, Maria Cristina ; Guerneri, Silvana ; Rusconi, Daniela ; Ballarati, Lucia ; Milani, Donatella ; Grosso, Enrico ; Cavalli, Pietro ; Giardino, Daniela ; Bonati, Maria Teresa ; Larizza, Lidia ; Finelli, Palma

Molecular cytogenetics, 2013-10-30, Vol.6 (1), p.45-45 [Rivista Peer Reviewed]

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