Publications de Angius au CRS4

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Publications en 2024

Peer-reviewed publications in International Journals

[2-AMP24]

A novel affordable and reliable framework for accurate detection and comprehensive analysis of somatic mutations in cancer

Rossano Atzeni, Matteo Massidda, Enrico Pieroni, Vincenzo Rallo, Massimo Pisu, Andrea Angius

International Journal of Molecular Sciences - MDPI - 8044 - vol. 25 num. 15 - july 2024
issn: 1422-0067 doi: 10.3390/ijms25158044

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-AUP19]

Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma

Andrea Angius, Paolo Uva, Giovanna Pira, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Molecular Sciences pages 4067 vol. 20 num. 16 - 2019 doi: 10.3390/ijms20164067

[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

[2-APS19]

MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers

Andrea Angius, Giovanna Pira, Antonio Scanu, Paolo Uva, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Medical Sciences - 2019 doi: 10.7150/ijms.35269

Publications en 2018

Peer-reviewed publications in International Journals

[2-U L18]

miRNA-135b Contributes to Triple Negative Breast Cancer Molecular Heterogeneity: Different Expression Profile in Basal-like Versus non-Basal-like Phenotypes

Paolo Uva, Paolo Cossu-Rocca, Federica Loi, Giovanna Pira, Luciano Murgia, Sandra Orrù, Matteo Floris, Maria Rosaria Muroni, Francesca Sanges, Ciriaco Carru, Andrea Angius, Maria Rosaria De Miglio

International Journal of Medical Sciences - march 2018 doi: 10.7150/ijms.23402

[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

Peer-reviewed publications in National Journals

[3-PMS17]

Il microRNA-135b nella caratterizzazione molecolare del carcinoma della mammella triplo negativo

Giovanna Pira, Luciano Murgia, Francesca Sanges, Paolo Uva, Paolo Cossu-Rocca, Federica Loi, Sandra Orrù, Maria Rosaria Muroni, Ciriaco Carru, Andrea Angius, Maria Rosaria De Miglio

Biochimica Clinica pages 239-244 vol. 41 num. 3 - august 2017 doi: 10.19186/BC_2017.035

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

[6-PSM17]

Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1

Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Anna Villa, Cristina Sobacchi

Poster presentation at Telethon Meeting, Marzo 2017, Riva del Garda - march 2017

Publications en 2016

Peer-reviewed publications in International Journals

[2-OCM16]

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

Massimiliano Orsini, Cristina Costelli, Veronica Malavasi, Roberto Cusano, Alessandro Concas, Andrea Angius, Giacomo Cao

Mitochondrial DNA Taylor & Francis pages 1539-1541 vol. 27 num. 2 - 2016 doi: 10.3109/19401736.2014.953128

[2-OCM16]

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A

Massimiliano Orsini, Cristina Costelli, Veronica Malavasi, Roberto Cusano, Alessandro Concas, Andrea Angius, Giacomo Cao

Mitochondrial DNA Taylor and Francis pages 3128--3130 vol. 27 - 2016 doi: 10.3109/19401736.2015.1007297

[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

[2-OCC16]

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

Massimiliano Orsini, Roberto Cusano, Cristina Costelli, Veronica Malavasi, Alessandro Concas, Andrea Angius, Giacomo Cao

Mithocondrial DNA Taylor & Francis pages 838--839 vol. 27 num. 2 - may 2016
issn: 1940-1736 doi: 10.3109/19401736.2014.919466

Peer-reviewed publications in international events

[4-PZM16]

NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1

Eleonora Palagano, Giulia Zuccarini, Stefano Mantero, Daniele Conte, Andrea Angius, Paolo Uva, Paolo Prontera, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi

43rd Annual European Calcified Tissue Society Congress - april 2016 doi: 10.1530/boneabs.5.P244

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

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