CRS4

Publications de Persico au CRS4


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7 publications Download the selection

Publications en 2019
Peer-reviewed publications in International Journals
[2-AUO19] [Add to your selection]
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] [Add to your selection]
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] [Add to your selection]
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] [Add to your selection]
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] [Add to your selection]
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-CAO17] [Add to your selection]
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-AUB16] [Add to your selection]
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

7 publications Download the selection