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Identification and characterisation of eight novel SERPINA1 Null mutations
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 172, doi. 10.1186/s13023-014-0172-y
By:
- Ferrarotti, Ilaria;
- Carroll, Tomás P;
- Ottaviani, Stefania;
- Fra, Anna M;
- O’Brien, Geraldine;
- Molloy, Kevin;
- Corda, Luciano;
- Medicina, Daniela;
- Curran, David R;
- McElvaney, Noel G;
- Luisetti, Maurizio
Publication type:
Article
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.
Published in:
Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-12
By:
- Denden, Sabri;
- Zorzetto, Michele;
- Amri, Fethi;
- Knani, Jalel;
- Ottaviani, Stefania;
- Scabini, Roberta;
- Gorrini, Marina;
- Ferrarotti, Ilaria;
- Campo, Ilaria;
- Chibani, Jemni Ben;
- Khelil, Amel Haj;
- Luisetti, Maurizio
Publication type:
Article
Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.
Published in:
Minerva Medica, 2024, v. 115, n. 1, p. 23, doi. 10.23736/S0026-4806.22.08266-0
By:
- PILONI, Davide;
- OTTAVIANI, Stefania;
- SADERI, Laura;
- CORDA, Luciano;
- BADERNA, Paolo;
- BARZON, Valentina;
- BALDERACCHI, Alice M.;
- SEEBACHER, Christine;
- BALBI, Bruno;
- ALBICINI, Federica;
- CORINO, Alessandra;
- MENNITTI, Maria C.;
- TIRELLI, Claudio;
- SPREAFICO, Fabio;
- BOSIO, Matteo;
- MARIANI, Francesca;
- SOTGIU, Giovanni;
- CORSICO, Angelo G.;
- FERRAROTTI, Ilaria
Publication type:
Article
Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9859, doi. 10.3390/ijms23179859
By:
- Barzon, Valentina;
- Ottaviani, Stefania;
- Balderacchi, Alice Maria;
- Corino, Alessandra;
- Piloni, Davide;
- Accordino, Giulia;
- Coretti, Manuela;
- Mariani, Francesca;
- Corsico, Angelo Guido;
- Ferrarotti, Ilaria
Publication type:
Article
The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5668, doi. 10.3390/ijms22115668
By:
- Ronzoni, Riccardo;
- Ferrarotti, Ilaria;
- D'Acunto, Emanuela;
- Balderacchi, Alice M.;
- Ottaviani, Stefania;
- Lomas, David A.;
- Irving, James A.;
- Miranda, Elena;
- Fra, Annamaria
Publication type:
Article
Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD.
Published in:
Multidisciplinary Respiratory Medicine, 2017, v. 12, p. 1, doi. 10.1186/s40248-017-0104-5
By:
- Zhumagaliyeva, Ardak;
- Ottaviani, Stefania;
- Greulich, Timm;
- Gorrini, Marina;
- Vogelmeier, Claus;
- Karazhanova, Ludmila;
- Nurgazina, Gulmira;
- DeSilvestri, Annalisa;
- Kotke, Victor;
- Barzon, Valentina;
- Zorzetto, Michele;
- Corsico, Angelo;
- Ferrarotti, Ilaria
Publication type:
Article
How Can We Improve the Detection of Alpha1-Antitrypsin Deficiency?
Published in:
PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135316
By:
- Ferrarotti, Ilaria;
- Poplawska-Wisniewska, Beata;
- Trevisan, Maria Teresa;
- Koepke, Janine;
- Dresel, Marc;
- Koczulla, Rembert;
- Ottaviani, Stefania;
- Baldo, Raffaele;
- Gorrini, Marina;
- Sala, Giorgia;
- Cavallon, Luana;
- Welte, Tobias;
- Chorostowska-Wynimko, Joanna;
- Luisetti, Maurizio;
- Janciauskiene, Sabina
Publication type:
Article
SERPINA1 PiZ and PiS Heterozygotes and Lung Function Decline in the SAPALDIA Cohort.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042728
By:
- Thun, Gian-Andri;
- Ferrarotti, Ilaria;
- Imboden, Medea;
- Rochat, Thierry;
- Gerbase, Margaret;
- Kronenberg, Florian;
- Bridevaux, Pierre-Olivier;
- Zemp, Elisabeth;
- Zorzetto, Michele;
- Ottaviani, Stefania;
- Russi, Erich W.;
- Luisetti, Maurizio;
- Probst-Hensch, Nicole M.;
- de Torres, Juan P.
Publication type:
Article
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2023, v. 69, n. 3, p. 355, doi. 10.1165/rcmb.2022-0470oc
By:
- Ottaviani, Stefania;
- Bartoli, Giulia;
- Carroll, Tomas P.;
- Gangemi, Fabrizio;
- Balderacchi, Alice M.;
- Barzon, Valentina;
- Corino, Alessandra;
- Piloni, Davide;
- McElvaney, Noel G.;
- Corsico, Angelo G.;
- Irving, James A.;
- Fra, Annamaria;
- Ferrarotti, Ilaria
Publication type:
Article
The pathological Trento variant of alpha-1-antitrypsin (E75V) shows nonclassical behaviour during polymerization.
Published in:
FEBS Journal, 2017, v. 284, n. 13, p. 2110, doi. 10.1111/febs.14111
By:
- Miranda, Elena;
- Ferrarotti, Ilaria;
- Berardelli, Romina;
- Laffranchi, Mattia;
- Cerea, Marta;
- Gangemi, Fabrizio;
- Haq, Imran;
- Ottaviani, Stefania;
- Lomas, David A.;
- Irving, James A.;
- Fra, Annamaria
Publication type:
Article
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Published in:
2020
By:
- Ottaviani, Stefania;
- Barzon, Valentina;
- Buxens, Amaya;
- Gorrini, Marina;
- Larruskain, Amaia;
- El Hamss, Rachid;
- Balderacchi, Alice M.;
- Corsico, Angelo G.;
- Ferrarotti, Ilaria
Publication type:
journal article
Quantification of circulating alpha-1-antitrypsin polymers associated with different SERPINA1 genotypes.
Published in:
Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 10, p. 1980, doi. 10.1515/cclm-2023-1348
By:
- Balderacchi, Alice M.;
- Bignotti, Mattia;
- Ottaviani, Stefania;
- Denardo, Andrea;
- Barzon, Valentina;
- Ben Khlifa, Emna;
- Vailati, Guido;
- Piloni, Davide;
- Benini, Federica;
- Corda, Luciano;
- Corsico, Angelo G.;
- Ferrarotti, Ilaria;
- Fra, Annamaria
Publication type:
Article
Improving the diagnosis of AATD with aid of serum protein electrophoresis: a prospective, multicentre, validation study.
Published in:
2024
By:
- Scarlata, Simone;
- Ottaviani, Stefania;
- Villa, Alfredo;
- Baglioni, Stefano;
- Basile, Filomena;
- Annunziata, Anna;
- Santangelo, Simona;
- Francesconi, Maria;
- Arcoleo, Francesco;
- Balderacchi, Alice M.;
- Angeletti, Silvia;
- Magni, Sara;
- Corsico, Angelo G.;
- Ferrarotti, Ilaria
Publication type:
Letter
Comparison of different algorithms in laboratory diagnosis of alpha1-antitrypsin deficiency.
Published in:
Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 8, p. 1384, doi. 10.1515/cclm-2020-1881
By:
- Balderacchi, Alice M.;
- Barzon, Valentina;
- Ottaviani, Stefania;
- Corino, Alessandra;
- Zorzetto, Michele;
- Wencker, Marion;
- Corsico, Angelo G.;
- Ferrarotti, Ilaria
Publication type:
Article
Electrophoretic α<sub>1</sub>-globulin for screening of α<sub>1</sub>-antitrypsin deficient variants.
Published in:
Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 11, p. 1837, doi. 10.1515/cclm-2020-0071
By:
- Scarlata, Simone;
- Santangelo, Simona;
- Ferrarotti, Ilaria;
- Corsico, Angelo Guido;
- Ottaviani, Stefania;
- Finamore, Panaiotis;
- Fontana, Davide;
- Miravitlles, Marc;
- Incalzi, Raffaele Antonelli
Publication type:
Article

Found: 15