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Publications en 2015

Peer-reviewed publications in International Journals

[2-RZH15]

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Frederic Reinier, Magdalena Zoledziewska, David Hanna, Josh D Smith, Maria Valentini, Ilenia Zara, Riccardo Berutti, Serena Sanna, Manuela Oppo, Roberto Cusano, Rosanna Satta, Maria Antonietta Montesu, Christopher M. S. Jones, Decio Cerimele, Debby A. Nickerson, Andrea Angius, Francesco Cucca, F. Cottoni, Laura Crisponi

Metabolism - 2015 doi: 10.1016/j.metabol.2015.07.022 Share on mendeley

Publications en 2014

Peer-reviewed publications in International Journals

[2-PPO14]

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro, Ashok Vellodi, Blanca Gener, Isabel Liano-Rivas, Jamal Raza, Irum Aatta, Paolo Vezzoni, Andrea Superti-Fuga, Anna Villa, Cristina Sobacchi

Bone Elsevier pages 122-126 vol. 59 num. 59 - february 2014 doi: 10.1016/j.bone.2013.11.014

Various talks, works and publications

[6-PPS14]

New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations

Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

[6-COU14]

Unravelling the genetic causes of syndromic intellectual disability in the era of exome sequencing

Laura Crisponi, Manuela Oppo, Paolo Uva, Stefano Onano, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Ilenia Zara, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Maria Valentini, Christopher M. S. Jones, Serena Sanna, Alessia Loi, V Dessi, C Perria, V Pes, G. Serra, Stefano Sotgiu, Andrea Angius, Francesco Cucca

Poster presentation at Convegno Nazionale Società Italiana di Genetica Umana SIGU, Il Sequenziamento di Nuova Generazione in Genetica Umana e Medica, Bologna, October 30-31, 2014 - 2014

[6-CRZ14]

P.SER605DEL IN POLD1 E' UNA MUTAZIONE RICORRENTE CAUSA DELLA SINDROME MDPL

Laura Crisponi, Frederic Reinier, Magdalena Zoledziewska, David Hanna, J.D. Smith, Maria Valentini, Ilenia Zara, Riccardo Berutti, Serena Sanna, Manuela Oppo, Roberto Cusano, M.R. Montesu, Christopher M. S. Jones, D. Cerimele, Debby A. Nickerson, F. Cottoni, Andrea Angius, Francesco Cucca

Poster at SIGU2014 Bologna 30-31 October 2014 - 2014

[6-VHP14]

Method for determining values of molecular properties

Maria Valentini, Detlef W.M. Hofmann, Enrico Pieroni

International Patent Deposit - WO2014/033670 A2, 6 March 2014 - - march 2014

Publications en 2013

Peer-reviewed publications in International Journals

[2-OSC13]

Genetic Variants Regulating Immune Cell Levels in Health and Disease

Valeria Orrú, Maristella Steri, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Magdalena Zoledziewska, Fabio Busonero, Antonella Mulas, Matteo Floris, Wieslawa Mentzen, Silvana Urru, michele marongiu, stefania olla, MG Piras, Lobina M., Andrea Maschio, Maristella Pitzalis, Maria Francesca Urru, Marco Marcelli, Roberto Cusano, Francesca Deidda, Manuela Oppo, Rosella Pilu, Frederic Reinier, Riccardo Berutti, Luca Pireddu, Ilenia Zara, Eleonora Porcu, Alan Kwong , Christine Brennan , Brendan Tarrier, Hyun Kang , Robert Lyons, Sergio Uzzau, Rossano Atzeni, Maria Valentini, Firinu D., Lidia Leoni, Gianluca Rotta, Silvia Naitza, Andrea Angius, Mauro Congia, Michael Whalen, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Edoardo Fiorillo, Serena Sanna, Francesco Cucca

Cell Elsevier Inc pages 242-256 vol. 155 num. 1 - september 2013 doi: 10.1016/j.cell.2013.08.041

Peer-reviewed publications in international events

[4-MPB13]

Whole-exome sequencing in pedigrees segregating Type 1 Diabetes

Elisabetta Mereu, Maristella Pitzalis, Riccardo Berutti, Manuela Oppo, Carlo Sidore, Magdalena Zoledziewska, Laura Crisponi, Maria Valentini, Alessandro Puddu, Ilenia Zara, Francesca Deidda, Frederic Reinier, Renzo Galanello, P. Pusceddu, M. Frongia, Christopher M. S. Jones, Andrea Angius, Serena Sanna, Francesco Cucca

ESHG (European Society of Human Genetics) 2013 - june 2013

Publications en 2012

Peer-reviewed publications in International Journals

[2-CSP12]

HLA-DRB1-DQB1 Haplotypes Confer Susceptibility and Resistance to Multiple Sclerosis in Sardinia

Eleonora Cocco, Claudia Sardu, Enrico Pieroni, Maria Valentini, Raffaele Murru, Gianna Costa, Stefania Tranquilli, Jessica Frau, Giancarlo Coghe, Nicola Carboni, Matteo Floris, Paolo Contu, Maria Giovanna Marrosu

PLoS ONE - 2012 doi: 10.1371/journal.pone.0033972

Peer-reviewed publications in international events

[4-SOF12]

Genetic factors associated with levels of immune cell types

Maristella Steri, Valeria Orrú, Edoardo Fiorillo, Sole Gabriella, Sidore Carlo, Francesca Virdis, Mariano Dei, Sandra Lai, Antonella Mulas, MG Piras, Lobina M., Mara Marongiu, Magdalena Zoledziewska, Mauro Congia, Fabio Busonero, Andrea Maschio, Maria Francesca Urru, Marco Marcelli, Rossano Atzeni, Firinu D., Maria Valentini, Wieslawa Mentzen, Silvia Naitza, Michael Whalen, Andrea Angius, Christopher M. S. Jones, David Schlessinger, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca

American Society of Human Genetics/ San Francisco - Nov 6-10 - 2012

[4-ZPZ12]

Sequencing-based and multiplatform Genome-Wide Association Study for Multiple Sclerosis and Type 1 Diabetes in Sardinians

Ilenia Zara, Eleonora Porcu, Magdalena Zoledziewska, Maristella Pitzalis, Maria Valentini, Antonella Mulas, Fabio Busonero, Rossano Atzeni, Manuela Oppo, Frederic Reinier, Riccardo Berutti, Rosella Pilu, Francesca Deidda, Carlo Sidore, Roberta Piras, Alessia Loi, Sonia Sanna, Eleonora Cocco, Fausto Poddie, Gabriele Farina, Giulio Rosati, Luca Lianas, Gianmauro Cuccuru, Gianluigi Zanetti, Andrea Angius, Maria Giovanna Marrosu, Christopher M. S. Jones, Gonçalo R. Abecasis, Serena Sanna, Francesco Cucca

ASHG (American Society of Human Genetics) 2012, San Francisco, USA - november 2012

[4-ZOC12]

Unravelling the genetic causes of syndromic Intellectual Disability in the era of exome sequencing

Ilenia Zara, Manuela Oppo, Francesca Chiappe, Frederic Reinier, Riccardo Berutti, Rossano Atzeni, Christopher M. S. Jones, V. Dessì, G. Serra, Maria Valentini, Andrea Angius, Serena Sanna, Francesco Cucca, Laura Crisponi

ESHG (European Society of Human Genetics) 2012, Nuremberg, Germany - june 2012

[4-BRA12]

QCTool: an efficient toolkit to automatically generate quality metrics of next-generation sequencing data.

Riccardo Berutti, Frederic Reinier, Rossano Atzeni, Andrea Angius, Roberto Cusano, Marco Marcelli, Manuela Oppo, Rosella Pilu, Maria Francesca Urru, Maria Valentini, Ilenia Zara, Serena Sanna, Francesco Cucca, Christopher M. S. Jones

ESHG (European Society of Human Genetics) 2012, Nuremberg, Germany - june 2012

Various talks, works and publications

[6-VHP12]

Metodo per determinare valori di proprietà molecolari

Maria Valentini, Detlef W.M. Hofmann, Enrico Pieroni

Italian Patent Deposit - MI2012A001457 30/08/2012 - - august 2012

Publications en 2011

Peer-reviewed publications in international events

[4-VZM11]

Comparison of two Strategies for Genotype Calling

Maria Valentini, Ilenia Zara, Michele Muggiri, Carlo Podda, Lidia Leoni, Christopher M. S. Jones, Serena Sanna

ESHG 2011 - European Human Genetics Conference 2011 - may 2011

[4-ZPZ11]

A genome-wide association study for two autoimmune diseases in Sardinia

Ilenia Zara, Maristella Pitzalis, Magdalena Zoledziewska, Raffaele Murru, Francesca Deidda, Mariano Dei, Sandra Lai, Fausto Poddie, Roberto Cusano, Marco Marcelli, Frederic Reinier, Riccardo Berutti, Carlo Sidore, Maria Valentini, Gabriele Farina, David Schlessinger, Giulio Rosati, Maria Giovanna Marrosu, Serena Sanna, Francesco Cucca

ESHG (European Society of Human Genetics) 2011, Amsterdam, The Netherlands - may 2011

Various talks, works and publications

[6-LZV11]

Efficient computing of genotype calling for GWAS

Simone Leo, Ilenia Zara, Maria Valentini, Serena Sanna, Gianluigi Zanetti

poster - 12th International Congress of Human Genetics (ICHG) - october 2011

Publications en 2010

Peer-reviewed publications in International Journals

[2-FCV10]

A novel mutation in Lamin A/C gene: phenotype and consequences on the protein structure and flexibility

Matteo Floris, Nicola Carboni, Maria Valentini, Giovanni Marrosu, Eleonora Cocco, Maria Antonietta Maioli, Elisabetta Solla, Anna Mateddu, Marco Mura, Maria Giovanna Marrosu

SRX Biology SRX - 2010 doi: 10.3814/2010/301679

Publications en 2009

Peer-reviewed publications in International Journals

[2-CDF09]

Site-directed enzymatic pegylation of the human granulocyte colony-stimulating factor

Maullu C, Raimondo D, Caboi F, A. Giorgetti, Sergi M, Maria Valentini, Tonon G, Anna Tramontano

FEBS Journal pages 6741-6750 vol. 276 num. 22 - 2009

Various talks, works and publications

[6-PVH09]

What kind of atoms are there? natural atomic types from pdb and their relevance for structural modeling

Enrico Pieroni, Maria Valentini, Detlef W.M. Hofmann

Poster presented at the ISMB/ECCB conference, June 27 - July 2, Stockholm, Sweden - 2009

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