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 *

140 related articles for article (PubMed ID: 22781097)

  • 1. Clinical utility gene card for: Glanzmann thrombasthenia.
    Fiore M; Nurden AT; Nurden P; Seligsohn U
    Eur J Hum Genet; 2012 Oct; 20(10):. PubMed ID: 22781097
    [No Abstract]   [Full Text] [Related]  

  • 2. ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
    Nurden AT; Pillois X
    Platelets; 2018 Jan; 29(1):98-101. PubMed ID: 29125375
    [No Abstract]   [Full Text] [Related]  

  • 3. No genetic abnormalities identified in α2IIb and β3: phenotype overcomes genotype in Glanzmann thrombasthenia.
    Kannan M; Saxena R
    Int J Lab Hematol; 2017 Apr; 39(2):e41-e44. PubMed ID: 27808476
    [No Abstract]   [Full Text] [Related]  

  • 4. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.
    Nurden AT; Pillois X; Nurden P
    Expert Rev Hematol; 2012 Oct; 5(5):487-503. PubMed ID: 23146053
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.
    Aloui C; Chakroun T; Granados V; Jemni-Yacoub S; Fagan J; Khelif A; Kahloul N; Hammami S; Chkioua L; Barlier C; Cognasse F; Laradi S; Garraud O
    Blood Coagul Fibrinolysis; 2018 Dec; 29(8):689-696. PubMed ID: 30325339
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia.
    Nurden AT
    J Thromb Haemost; 2007 Mar; 5(3):647-9; author reply 649-51. PubMed ID: 17166245
    [No Abstract]   [Full Text] [Related]  

  • 7. Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis.
    Fiore M; Nurden AT; Vinciguerra C; Nurden P; Pillois X
    Thromb Haemost; 2010 Nov; 104(5):1076-7. PubMed ID: 20886184
    [No Abstract]   [Full Text] [Related]  

  • 8. Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
    Nurden AT; Pillois X; Fiore M; Alessi MC; Bonduel M; Dreyfus M; Goudemand J; Gruel Y; Benabdallah-Guerida S; Latger-Cannard V; Négrier C; Nugent D; Oiron RD; Rand ML; Sié P; Trossaert M; Alberio L; Martins N; Sirvain-Trukniewicz P; Couloux A; Canault M; Fronthroth JP; Fretigny M; Nurden P; Heilig R; Vinciguerra C
    Hum Mutat; 2015 May; 36(5):548-61. PubMed ID: 25728920
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
    Pillois X; Nurden AT
    Br J Haematol; 2016 Nov; 175(4):686-695. PubMed ID: 27469266
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.
    Sandrock-Lang K; Oldenburg J; Wiegering V; Halimeh S; Santoso S; Kurnik K; Fischer L; Tsakiris DA; Sigl-Kraetzig M; Brand B; Bührlen M; Kraetzer K; Deeg N; Hund M; Busse E; Kahle A; Zieger B
    Thromb Haemost; 2015 Apr; 113(4):782-91. PubMed ID: 25373348
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
    Nurden AT; Fiore M; Nurden P; Heilig R; Pillois X
    Platelets; 2011; 22(7):547-51. PubMed ID: 21557682
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin.
    Bagoly Z; Fazakas F; Marosi A; Török O; Bereczky Z; Haramura G; Tóth J; Kappelmayer J; Muszbek L
    Thromb Res; 2010 May; 125(5):427-31. PubMed ID: 20106508
    [No Abstract]   [Full Text] [Related]  

  • 13. Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
    Park KJ; Chung HS; Lee KO; Park IA; Kim SH; Kim HJ
    Pediatr Blood Cancer; 2012 Aug; 59(2):335-8. PubMed ID: 22190468
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
    Nurden AT; Fiore M; Nurden P; Pillois X
    Blood; 2011 Dec; 118(23):5996-6005. PubMed ID: 21917754
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutations in Thai patients with glanzmann thrombasthenia.
    Ittiwut R; Suchartlikitwong P; Kittikalayawong Y; Ittiwut C; Prasopsanti K; Sosothikul D; Shotelersuk V; Suphapeetiporn K
    Eur J Haematol; 2017 Dec; 99(6):520-524. PubMed ID: 28888044
    [TBL] [Abstract][Full Text] [Related]  

  • 16. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
    Jallu V; Dusseaux M; Panzer S; Torchet MF; Hezard N; Goudemand J; de Brevern AG; Kaplan C
    Hum Mutat; 2010 Mar; 31(3):237-46. PubMed ID: 20020534
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
    Ali T; Gul S; Amar A; Shakoor M; Farhan S; Mohsin S; Khaliq S
    Int J Lab Hematol; 2020 Oct; 42(5):628-635. PubMed ID: 32558238
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
    Zafarghandi Motlagh F; Fallah MS; Bagherian H; Shirzadeh T; Ghasri S; Dabbagh S; Jamali M; Salehi Z; Abiri M; Zeinali S
    Orphanet J Rare Dis; 2019 Apr; 14(1):87. PubMed ID: 31029159
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
    Yang EJ; Shim YJ; Kim HS; Lim YT; Im HJ; Koh KN; Kim H; Suh JK; Park ES; Lee NH; Choi YB; Hah JO; Lee JM; Han JW; Lee JH; Lee YH; Jung HL; Ha JS; Ki CS; On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34066320
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.
    Nair S; Li J; Mitchell WB; Mohanty D; Coller BS; French DL
    Thromb Haemost; 2002 Sep; 88(3):503-9. PubMed ID: 12353082
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.