Literature DB >> 15744045

Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.

I Ferrarotti, J Baccheschi, M Zorzetto, C Tinelli, L Corda, B Balbi, I Campo, E Pozzi, G Faa, P Coni, G Massi, G Stella, M Luisetti.   

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Year:  2005        PMID： 15744045      PMCID： PMC1736021          DOI： 10.1136/jmg.2004.023903

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  24 in total

1.  A novel alpha1-antitrypsin null variant (PiQ0Milano ).

Authors:  Raffaela Rametta; Gabriella Nebbia; Paola Dongiovanni; Marcello Farallo; Silvia Fargion; Luca Valenti
Journal:  World J Hepatol       Date:  2013-08-27

2.  Can we change a genetically determined future?

Authors:  Lígia Rodrigues Fernandes; Luis Vaz Rodrigues; Filipa Costa; Yvette Martins
Journal:  BMJ Case Rep       Date:  2015-05-15

3.  Rapid genotyping of alpha 1 antitrypsin deletion mutation (PI*Mmalton) using bi-directional PCR allele-specific amplification.

Authors:  Sabri Denden; Ramzi Lakhdar; Nadia Leban; Jemni Ben Chibani; Amel Haj Khelil
Journal:  Mol Biotechnol       Date:  2010-06       Impact factor: 2.695

4.  Alpha-1 antitrypsin deficiency in the elderly: a case report.

Authors:  Anna Annunziata; Maurizia Lanza; Antonietta Coppola; Giuseppe Fiorentino
Journal:  J Med Case Rep       Date:  2021-05-10

Review 5.  Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis.

Authors:  Jennifer A Dickens; David A Lomas
Journal:  Drug Des Devel Ther       Date:  2011-08-17       Impact factor: 4.162

6.  Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.

Authors:  Anna M Fra; Bibek Gooptu; Ilaria Ferrarotti; Elena Miranda; Roberta Scabini; Riccardo Ronzoni; Federica Benini; Luciano Corda; Daniela Medicina; Maurizio Luisetti; Luisa Schiaffonati
Journal:  PLoS One       Date:  2012-06-18       Impact factor: 3.240

7.  SP-A binds alpha1-antitrypsin in vitro and reduces the association rate constant for neutrophil elastase.

Authors:  Marina Gorrini; Anna Lupi; Paolo Iadarola; Conceição Dos Santos; Paola Rognoni; Daniele Dalzoppo; Natalia Carrabino; Ernesto Pozzi; Aldo Baritussio; Maurizio Luisetti
Journal:  Respir Res       Date:  2005-12-13

Review 8.  Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management.

Authors:  Jan Stolk; Niels Seersholm; Noor Kalsheker
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2006

9.  Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.

Authors:  Sabri Denden; Michele Zorzetto; Fethi Amri; Jalel Knani; Stefania Ottaviani; Roberta Scabini; Marina Gorrini; Ilaria Ferrarotti; Ilaria Campo; Jemni Ben Chibani; Amel Haj Khelil; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2009-04-15       Impact factor: 4.123

Review 10.  Hereditary alpha-1-antitrypsin deficiency and its clinical consequences.

Authors:  Laura Fregonese; Jan Stolk
Journal:  Orphanet J Rare Dis       Date:  2008-06-19       Impact factor: 4.123
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