These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 1552539)

  • 1. What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.
    Kalsheker N; Hayes K; Weidinger S; Graham A
    J Med Genet; 1992 Jan; 29(1):27-9. PubMed ID: 1552539
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).
    Poller W; Merklein F; Schneider-Rasp S; Haack A; Fechner H; Wang H; Anagnostopoulos I; Weidinger S
    Eur J Hum Genet; 1999 Apr; 7(3):321-31. PubMed ID: 10234508
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen.
    Hofker MH; Nukiwa T; van Paassen HM; Nelen M; Kramps JA; Klasen EC; Frants RR; Crystal RG
    Hum Genet; 1989 Feb; 81(3):264-8. PubMed ID: 2784123
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rare deficiency types of alpha 1-antitrypsin: electrophoretic variation and DNA haplotypes.
    Cox DW; Billingsley GD
    Am J Hum Genet; 1989 Jun; 44(6):844-54. PubMed ID: 2786333
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a new defective SERPINA1 allele (PI*Z
    Hernández-Pérez JM; Ramos-Díaz R; Pérez JA
    Respir Med; 2017 Oct; 131():114-117. PubMed ID: 28947017
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel alpha1-antitrypsin null variant (Q0Cairo).
    Zorzetto M; Ferrarotti I; Campo I; Balestrino A; Nava S; Gorrini M; Scabini R; Mazzola P; Luisetti M
    Diagn Mol Pathol; 2005 Jun; 14(2):121-4. PubMed ID: 15905697
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
    Lara B; Martínez-Delgado B; Torres ML; Marín-Arguedas S; Bustamante A; Miravitlles M
    Arch Bronconeumol; 2013 Dec; 49(12):548-50. PubMed ID: 24183282
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New
    Matamala N; Gomez-Mariano G; Perez JA; Baladrón B; Torres-Durán M; Michel FJ; Saez R; Hernández-Pérez JM; Belmonte I; Rodriguez-Frias F; Blanco I; Strnad P; Janciauskiene S; Martinez-Delgado B
    Am J Respir Cell Mol Biol; 2020 Oct; 63(4):444-451. PubMed ID: 32515985
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
    Graham A; Kalsheker NA; Bamforth FJ; Newton CR; Markham AF
    Hum Genet; 1990 Oct; 85(5):537-40. PubMed ID: 2227940
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
    Lara B; Martínez MT; Blanco I; Hernández-Moro C; Velasco EA; Ferrarotti I; Rodriguez-Frias F; Perez L; Vazquez I; Alonso J; Posada M; Martínez-Delgado B
    Respir Res; 2014 Oct; 15(1):125. PubMed ID: 25287719
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inherited chronic obstructive pulmonary disease: new selective-sequencing workup for alpha1-antitrypsin deficiency identifies 2 previously unidentified null alleles.
    Prins J; van der Meijden BB; Kraaijenhagen RJ; Wielders JP
    Clin Chem; 2008 Jan; 54(1):101-7. PubMed ID: 18024524
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Isoelectric focusing phenotyping and denaturing gradient gel electrophoresis genotyping: a comparison of two methods in detection of alpha-1-antitrypsin variants.
    Ljujic M; Topic A; Divac A; Nikolic A; Petrovic-Stanojevic N; Surlan M; Mitic-Milikic M; Radojkovic D
    Transl Res; 2008 May; 151(5):255-9. PubMed ID: 18433707
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg.
    Weidinger S; Jahn W; Cujnik F; Schwarzfischer F
    Hum Genet; 1985; 71(1):27-9. PubMed ID: 3875547
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton.
    Fraizer GC; Siewertsen M; Harrold TR; Cox DW
    Hum Genet; 1989 Nov; 83(4):377-82. PubMed ID: 2807278
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.
    Rahaghi FF; Miravitlles M
    Respir Res; 2017 May; 18(1):105. PubMed ID: 28558837
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Null
    Chen S; DeMarco ML; Estey MP; Kyle B; Parker ML; Agbor TA; Kawada P; Speevak M; Nelson TN; Mattman A
    Clin Biochem; 2020 May; 79():23-27. PubMed ID: 32087139
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.
    Hernández Pérez JM; Ramos Díaz R; Fumero García S; Pérez Pérez JA
    Arch Bronconeumol; 2015 Jan; 51(1):e1-3. PubMed ID: 24673984
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes).
    Cox DW; Levison H
    Am Rev Respir Dis; 1988 Feb; 137(2):371-5. PubMed ID: 3257661
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
    Silva D; Oliveira MJ; Guimarães M; Lima R; Gomes S; Seixas S
    Respir Med; 2016 Jul; 116():8-18. PubMed ID: 27296815
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Alpha-1 antitrypsin deficiency caused by Null mutation].
    Perrin J; Aimone-Gastin I; Balduyck M; Mercy M; Filhine-Trésarrieu P; Odou MF; Chaouat A; Chabot F
    Rev Mal Respir; 2016 Sep; 33(7):612-7. PubMed ID: 26604020
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.