Literature DB >> 21248733

Clinical utility gene card for: α-1-antitrypsin deficiency.

Sabina Janciauskiene1, Ilaria Ferrarotti, Florian Laenger, Danny Jonigk, Maurizio Luisetti.   

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Year:  2011        PMID： 21248733      PMCID： PMC3083625          DOI： 10.1038/ejhg.2010.246

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  19 in total

1.  Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group.

Authors:  N G McElvaney; J K Stoller; A S Buist; U B Prakash; M L Brantly; M D Schluchter; R D Crystal
Journal:  Chest       Date:  1997-02       Impact factor: 9.410

2.  The natural history of liver disease in alpha 1-antitrypsin deficient children.

Authors:  T Sveger
Journal:  Acta Paediatr Scand       Date:  1988-11

3.  Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).

Authors:  W Poller; F Merklein; S Schneider-Rasp; A Haack; H Fechner; H Wang; I Anagnostopoulos; S Weidinger
Journal:  Eur J Hum Genet       Date:  1999-04       Impact factor: 4.246

4.  Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.

Authors:  F J de Serres; M Luisetti; I Ferrarotti; I Blanco; E Fernández-Bustillo
Journal:  Monaldi Arch Chest Dis       Date:  2005-09

5.  Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates.

Authors:  E K Silverman; J A Pierce; M A Province; D C Rao; E J Campbell
Journal:  Ann Intern Med       Date:  1989-12-15       Impact factor: 25.391

6.  Effect of environmental and clinical factors on lung function and respiratory symptoms in adolescents with alpha1-antitrypsin deficiency.

Authors:  E Piitulainen; T Sveger
Journal:  Acta Paediatr       Date:  1998-11       Impact factor: 2.299

7.  Respiratory symptoms and lung function in 30-year-old individuals with alpha-1-antitrypsin deficiency.

Authors:  Elisabeth Bernspång; Tomas Sveger; Eeva Piitulainen
Journal:  Respir Med       Date:  2007-05-25       Impact factor: 3.415

8.  Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA.

Authors:  J Lee; N Novoradovskaya; B Rundquist; J Redwine; C Saltini; M Brantly
Journal:  Mol Genet Metab       Date:  1998-04       Impact factor: 4.797

9.  Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program.

Authors:  Robert Bals; Rembert Koczulla; Viktor Kotke; Juergen Andress; Karlheinz Blackert; Claus Vogelmeier
Journal:  Respir Med       Date:  2007-04-10       Impact factor: 3.415

10.  Risk factors for symptom onset in PI*Z alpha-1 antitrypsin deficiency.

Authors:  Annyce S Mayer; James K Stoller; Sverre Vedal; A James Ruttenber; Matt Strand; Robert A Sandhaus; Lee S Newman
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2006
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  5 in total

1.  [Aberrant reparative tissue remodeling: histopathology and molecular pathology].

Authors:  D Jonigk
Journal:  Pathologe       Date:  2014-11       Impact factor: 1.011

2.  Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline.

Authors:  Darcy D Marciniuk; P Hernandez; M Balter; J Bourbeau; K R Chapman; G T Ford; J L Lauzon; F Maltais; D E O'Donnell; D Goodridge; C Strange; A J Cave; K Curren; S Muthuri
Journal:  Can Respir J       Date:  2012 Mar-Apr       Impact factor: 2.409

3.  Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.

Authors:  Erin E Cummings; Linda P O'Reilly; Dale E King; Richard M Silverman; Mark T Miedel; Cliff J Luke; David H Perlmutter; Gary A Silverman; Stephen C Pak
Journal:  PLoS One       Date:  2015-10-29       Impact factor: 3.240

4.  Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach.

Authors:  Irene Belmonte; Miriam Barrecheguren; Rosa M López-Martínez; Cristina Esquinas; Esther Rodríguez; Marc Miravitlles; Francisco Rodríguez-Frías
Journal:  Int J Chron Obstruct Pulmon Dis       Date:  2016-10-11

5.  Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Authors:  Beatriz Lara; Maria Teresa Martínez; Ignacio Blanco; Cristina Hernández-Moro; Eladio A Velasco; Ilaria Ferrarotti; Francisco Rodriguez-Frias; Laura Perez; Irene Vazquez; Javier Alonso; Manuel Posada; Beatriz Martínez-Delgado
Journal:  Respir Res       Date:  2014-10-07
  5 in total

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