Publications de Crisponi au CRS4

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Publications en 2019

Peer-reviewed publications in International Journals

[2-AUO19]

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi

BMC Medical Genetics - 2019 doi: 10.1186/s12881-019-0745-7

[2-AUO19]

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

Andrea Angius, Paolo Uva, Manuela Oppo, Ivana Persico, Stefano Onano, Stefania Olla, Valentina Pes, Chiara Perria, Gianmauro Cuccuru, Rossano Atzeni, Gigliola Serra, Francesco Cucca, Stefano Sotgiu, Raoul Hennekam, Laura Crisponi

American Journal of Medical Genetics - 2019 doi: 10.1002/ajmg.a.61052

[2-AUO19]

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses

Andrea Angius, Paolo Uva, Manuela Oppo, I Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, ..., Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi

Clinical Genetics - 2019 doi: 10.1111/cge.13532

Publications en 2018

Peer-reviewed publications in International Journals

[2-ACU18]

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Andrea Angius, Silvia Cossu, Paolo Uva, Manuela Oppo, Stefano Onano, Ivana Persico, Giorgio Fotia, Rossano Atzeni, Gianmauro Cuccuru, M Asunis, Francesco Cucca, Dario Pruna, Laura Crisponi

Clinical Genetics - february 2018 doi: 10.1111/cge.13162

Publications en 2017

Peer-reviewed publications in International Journals

[2-CAO17]

Epileptic phenotypes related to the UNC79-UNC80- NALCN protein complex

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Laura Crisponi, Dario Pruna

Clinical cases and reviews in epilepsy Cic pages 54 - 58 - 2017 doi: 10.11138/ccre/2017.2.1.054

Various talks, works and publications

[6-DOA17]

The impact of an in-house Italian exome database for variant prioritization

Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia, Paolo Uva

Oral presentation at 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, Cagliari - july 2017

[6-CAO17]

Fenotipo epilettico in due fratelli con mutazioni nel gene NALCN

Silvia Cossu, Andrea Angius, Manuela Oppo, Stefano Onano, Ivana Persico, Paolo Uva, Gianmauro Cuccuru, M Asunis, Dario Pruna, Laura Crisponi

Poster presentation at 40 Congresso Nazionale LICE, 7-9 giugno 2017 - june 2017

Publications en 2016

Peer-reviewed publications in International Journals

[2-MDM16]

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Mara Marongiu, Manila Deiana, Loredana Marcia, Andrea Sbardellati, Isadora Asunis, Alessandra Meloni, Andrea Angius, Roberto Cusano, Angela Loi, Francesca Crobu, Giorgio Fotia, Francesco Cucca, David Schlessinger, Laura Crisponi

Developmental Biology pages 200-211 vol. 416 num. 1 - 2016 doi: 10.1016/j.ydbio.2016.05.022

[2-AUB16]

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016 doi: 10.1016/j.ajhg.2016.05.026

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[6-UDO16]

The importance of an Italian exome database for the study of rare diseases

Paolo Uva, Elena Diaconu, Stefano Onano, Rossano Atzeni, Carla Cossu, Gianmauro Cuccuru, Roberto Cusano, Manuela Oppo, Ilenia Zara, Andrea Angius, Laura Crisponi, Giorgio Fotia

Oral presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - 2016

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ...

Oral communication at ESHG 2016, Barcelona, Spain, May 20 2016 - may 2016

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

[2-PLP15]

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

G Palomba, Alessia Loi, Eleonora Porcu, Antonio Cossu, Ilenia Zara, Mario Budroni, Mariano Dei, Sandra Lai, Antonella Mulas, N Olmeo, MT Ionta, Francesco Atzori, Gianmauro Cuccuru, Maristella Pitzalis, Magdalena Zoledziewska, N Olla, M Lovicu, M Pisano, Gonçalo R. Abecasis, Manuela Uda, Francesco Tanda, K Michailidou, DF Easton, SJ Chanock, RN Hoover, DJ Hunter, David Schlessinger, Serena Sanna, Laura Crisponi, G Palmieri

BMC Cancer - may 2015 doi: 10.1186/s12885-015-1392-9

Various talks, works and publications

[6-CUO15]

Exploiting a large scale biodata management system to support NGS variant detection studies

Gianmauro Cuccuru, Paolo Uva, Stefano Onano, Rossano Atzeni, Simone Leo, Luca Lianas, Manuela Oppo, Luca Pireddu, Andrea Angius, Laura Crisponi, Gianluigi Zanetti, Giorgio Fotia

Poster presentation at ISMB/ECCB, 10-14 July 2015, Dublin - 2015

[6-UPO15]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Paolo Uva, Alessandro Puddu, Manuela Oppo, Stefano Onano, Loredana Marcia, Manila Deiana, Angela Loi, Mara Marongiu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius, Laura Crisponi

Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015

Publications en 2014

Various talks, works and publications

[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, Chiara Perria, Valentina Pes, Gigliola 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-CUO14]

Identification of novel gene(s) associated with Crisponi/cold induced sweating syndrome-like phenotype by whole-exome sequencing

Laura Crisponi, Paolo Uva, Stefano Onano, Manuela Oppo, Alessandro Puddu, Gianmauro Cuccuru, Giorgio Fotia, Frank Rutsch, Francesco Cucca, Giangiorgio Crisponi, Andrea Angius

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

Publications en 2013

Peer-reviewed publications in International Journals

[2-PPP13]

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Tommaso Pippucci, A Parmeggiani, F Palombo, A Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, R Liguori, ML Valentino, Marco Seri, Valerio Carelli

PLoS One pages 1-7 vol. 8 (12) - december 2013 doi: 10.1371/journal.pone.0082154

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