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1
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Crippa, Milena ; Biamino, Elisa ; Piccione, Maria ; Sotgiu, Stefano ; Perrìa, Chiara ; Vitiello, Giuseppina ; Frontali, Marina ; Boni, Antonella ; Di Fede, Elisabetta ; Gandini, Maria Chiara ; Colombo, Elisa Adele ; Bamshad, Michael J ; Nickerson, Deborah A ; Smith, Joshua D ; Loddo, Italia ; Finelli, Palma ; Seri, Marco ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019-02-26, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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2
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Colombo, Elisa Adele ; Spaccini, Luigina ; Volpi, Ludovica ; Negri, Gloria ; Cittaro, Davide ; Lazarevic, Dejan ; Zirpoli, Salvatore ; Farolfi, Andrea ; Gervasini, Cristina ; Cubellis, Maria Vittoria ; Larizza, Lidia

Orphanet journal of rare diseases, 2016-10-07, Vol.11 (1), p.136-136 [Rivista Peer Reviewed]

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3
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Colombo, Elisa Adele ; Mutlu-Albayrak, Hatice ; Shafeghati, Yousef ; Balasar, Mine ; Piard, Juliette ; Gentilini, Davide ; Di Blasio, Anna Maria ; Gervasini, Cristina ; Van Maldergem, Lionel ; Larizza, Lidia

Frontiers in pediatrics, 2019, Vol.7, p.210 [Rivista Peer Reviewed]

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4
Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Volpi, Ludovica ; Roversi, Gaia ; Colombo, Elisa Adele ; Leijsten, Nico ; Concolino, Daniela ; Calabria, Andrea ; Mencarelli, Maria Antonietta ; Fimiani, Michele ; Macciardi, Fabio ; Pfundt, Rolph ; Schoenmakers, Eric F.P.M ; Larizza, Lidia

American journal of human genetics, 2010, Vol.86 (1), p.72-76 [Rivista Peer Reviewed]

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5
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
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Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

Negri, Gloria ; Crescenzi, Barbara ; Colombo, Elisa Adele ; Fontana, Laura ; Barba, Gianluca ; Arcioni, Francesco ; Gervasini, Cristina ; Mecucci, Cristina ; Larizza, Lidia

British journal of haematology, 2015-11, Vol.171 (4), p.557-565 [Rivista Peer Reviewed]

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6
Expanding the role of the splicingUSB1gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
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Expanding the role of the splicingUSB1gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

Negri, Gloria ; Crescenzi, Barbara ; Colombo, Elisa Adele ; Fontana, Laura ; Barba, Gianluca ; Arcioni, Francesco ; Gervasini, Cristina ; Mecucci, Cristina ; Larizza, Lidia

British journal of haematology, 2015-11, Vol.171 (4), p.557-565 [Rivista Peer Reviewed]

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7
Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Volpi, Ludovica ; Roversi, Gaia ; Colombo, Elisa Adele ; Leijsten, Nico ; Concolino, Daniela ; Calabria, Andrea ; Mencarelli, Maria Antonietta ; Fimiani, Michele ; Macciardi, Fabio ; Pfundt, Rolph ; Schoenmakers, Eric F.P.M ; Larizza, Lidia

American journal of human genetics, 2010-09-10, Vol.87 (3), p.445-445 [Rivista Peer Reviewed]

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8
Dysregulated ratio between MARK4 L and S isoforms during glioma progression
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Dysregulated ratio between MARK4 L and S isoforms during glioma progression

Novielli, Chiara ; Magnani, Ivana ; Tabano, Silvia ; Fontana, Laura ; Moroni, Ramona Frida ; Colombo, Elisa Adele ; Monti, Laura ; Bello, Lorenzo ; Bauer, Dario ; Mazzoleni, Stefania ; Galli, Rossella ; Porta, Giovanni ; Frassoni, Carolina ; Larizza, Lidia

Cancer genetics and cytogenetics, 2010, Vol.203 (1), p.45-45

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9
Clock genes associate with white matter integrity in depressed bipolar patients
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Clock genes associate with white matter integrity in depressed bipolar patients

Bollettini, Irene ; Melloni, Elisa Maria Teresa ; Aggio, Veronica ; Poletti, Sara ; Lorenzi, Cristina ; Pirovano, Adele ; Vai, Benedetta ; Dallaspezia, Sara ; Colombo, Cristina ; Benedetti, Francesco

Chronobiology international, 2016-12-20, Vol.34 (2), p.212-224 [Rivista Peer Reviewed]

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10
International Congress of Drug Therapy in HIV Infection 23‐26 October 2016, Glasgow, UK
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International Congress of Drug Therapy in HIV Infection 23‐26 October 2016, Glasgow, UK

Journal of the International AIDS Society, 2016-10, Vol.19 (8(Suppl 7)), p.21487-n/a

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