Literature DB >> 30359090

Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing.

Craig P Hersh1, Edward J Campbell2, Lauren R Scott2, Benjamin A Raby1,3.   

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Year:  2019        PMID： 30359090      PMCID： PMC6353005          DOI： 10.1164/rccm.201809-1679LE

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  9 in total

Review 1.  Clinical practice. Alpha1-antitrypsin deficiency.

Authors:  Edwin K Silverman; Robert A Sandhaus
Journal:  N Engl J Med       Date:  2009-06-25       Impact factor: 91.245

Review 2.  The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult.

Authors:  Robert A Sandhaus; Gerard Turino; Mark L Brantly; Michael Campos; Carroll E Cross; Kenneth Goodman; D Kyle Hogarth; Shandra L Knight; James M Stocks; James K Stoller; Charlie Strange; Jeffrey Teckman
Journal:  Chronic Obstr Pulm Dis       Date:  2016-06-06

3.  PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD.

Authors:  C E Green; S Vayalapra; J A Hampson; D Mukherjee; R A Stockley; A M Turner
Journal:  Thorax       Date:  2015-07-03       Impact factor: 9.139

4.  Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial.

Authors:  Kenneth R Chapman; Jonathan G W Burdon; Eeva Piitulainen; Robert A Sandhaus; Niels Seersholm; James M Stocks; Berend C Stoel; Liping Huang; Zhenling Yao; Jonathan M Edelman; Noel G McElvaney
Journal:  Lancet       Date:  2015-05-27       Impact factor: 79.321

5.  Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes.

Authors:  Kevin Molloy; Craig P Hersh; Valerie B Morris; Tomás P Carroll; Catherine A O'Connor; Jessica A Lasky-Su; Catherine M Greene; Shane J O'Neill; Edwin K Silverman; Noel G McElvaney
Journal:  Am J Respir Crit Care Med       Date:  2014-02-15       Impact factor: 21.405

Review 6.  European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency.

Authors:  Marc Miravitlles; Asger Dirksen; Ilaria Ferrarotti; Vladimir Koblizek; Peter Lange; Ravi Mahadeva; Noel G McElvaney; David Parr; Eeva Piitulainen; Nicolas Roche; Jan Stolk; Gabriel Thabut; Alice Turner; Claus Vogelmeier; Robert A Stockley
Journal:  Eur Respir J       Date:  2017-11-30       Impact factor: 16.671

7.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  Identification and characterisation of eight novel SERPINA1 Null mutations.

Authors:  Ilaria Ferrarotti; Tomás P Carroll; Stefania Ottaviani; Anna M Fra; Geraldine O'Brien; Kevin Molloy; Luciano Corda; Daniela Medicina; David R Curran; Noel G McElvaney; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2014-11-26       Impact factor: 4.123
  9 in total
  3 in total

Review 1.  Pharmacogenomics of chronic obstructive pulmonary disease.

Authors:  Craig P Hersh
Journal:  Expert Rev Respir Med       Date:  2019-04-08       Impact factor: 3.772

2.  The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

Authors:  Victor E Ortega; Xingnan Li; Wanda K O'Neal; Lela Lackey; Elizabeth Ampleford; Gregory A Hawkins; Philip J Grayeski; Alain Laederach; Igor Barjaktarevic; R Graham Barr; Christopher Cooper; David Couper; MeiLan K Han; Richard E Kanner; Eric C Kleerup; Fernando J Martinez; Robert Paine; Stephen P Peters; Cheryl Pirozzi; Stephen I Rennard; Prescott G Woodruff; Eric A Hoffman; Deborah A Meyers; Eugene R Bleecker
Journal:  Am J Respir Crit Care Med       Date:  2020-03-01       Impact factor: 21.405

Review 3.  Potential Nutrients from Natural and Synthetic Sources Targeting Inflammaging-A Review of Literature, Clinical Data and Patents.

Authors:  Sushruta Koppula; Mahbuba Akther; Md Ezazul Haque; Spandana Rajendra Kopalli
Journal:  Nutrients       Date:  2021-11-13       Impact factor: 5.717
  3 in total

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