BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 31762358)

  • 1. Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.
    Amirifar P; Yazdani R; Moeini Shad T; Ghanadan A; Abolhassani H; Lavin M; Sotoudeh S; Aghamohammadi A
    Immunol Invest; 2020 Aug; 49(6):597-610. PubMed ID: 31762358
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients.
    Amirifar P; Mozdarani H; Yazdani R; Kiaei F; Moeini Shad T; Shahkarami S; Abolhassani H; Delavari S; Sohani M; Rezaei A; Hassanpour G; Akrami SM; Aghamohammadi A
    Immunol Invest; 2021 Feb; 50(2-3):201-215. PubMed ID: 32116070
    [No Abstract]   [Full Text] [Related]  

  • 3. Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.
    Amirifar P; Ranjouri MR; Lavin M; Abolhassani H; Yazdani R; Aghamohammadi A
    Expert Rev Clin Immunol; 2020 Sep; 16(9):859-871. PubMed ID: 32791865
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
    Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
    Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
    Navratil M; Đuranović V; Nogalo B; Švigir A; Dumbović Dubravčić I; Turkalj M
    Am J Case Rep; 2015 Sep; 16():631-6. PubMed ID: 26380989
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional classification of ATM variants in ataxia-telangiectasia patients.
    Fiévet A; Bellanger D; Rieunier G; Dubois d'Enghien C; Sophie J; Calvas P; Carriere JP; Anheim M; Castrioto A; Flabeau O; Degos B; Ewenczyk C; Mahlaoui N; Touzot F; Suarez F; Hully M; Roubertie A; Aladjidi N; Tison F; Antoine-Poirel H; Dahan K; Doummar D; Nougues MC; Ioos C; Rougeot C; Masurel A; Bourjault C; Ginglinger E; Prieur F; Siri A; Bordigoni P; Nguyen K; Philippe N; Bellesme C; Demeocq F; Altuzarra C; Mathieu-Dramard M; Couderc F; Dörk T; Auger N; Parfait B; Abidallah K; Moncoutier V; Collet A; Stoppa-Lyonnet D; Stern MH
    Hum Mutat; 2019 Oct; 40(10):1713-1730. PubMed ID: 31050087
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
    Blanchard-Rohner G; Peirolo A; Coulon L; Korff C; Horvath J; Burkhard PR; Gumy-Pause F; Ranza E; Jandus P; Dibra H; Taylor AMR; Fluss J
    Front Immunol; 2022; 13():791522. PubMed ID: 35154108
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia.
    Takada S; Weitering TJ; van Os NJH; Du L; Pico-Knijnenburg I; Kuipers TB; Mei H; Salzer E; Willemsen MAAP; Weemaes CMR; Pan-Hammarstrom Q; van der Burg M
    J Allergy Clin Immunol; 2024 May; 153(5):1392-1405. PubMed ID: 38280573
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ataxia-telangiectasia: A review of clinical features and molecular pathology.
    Amirifar P; Ranjouri MR; Yazdani R; Abolhassani H; Aghamohammadi A
    Pediatr Allergy Immunol; 2019 May; 30(3):277-288. PubMed ID: 30685876
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
    Amirifar P; Ranjouri MR; Pashangzadeh S; Lavin M; Yazdani R; Moeini Shad T; Mehrmohamadi M; Salami F; Delavari S; Moamer S; Aghamohammadi A; Akrami SM; Abolhassani H
    Pediatr Allergy Immunol; 2021 Aug; 32(6):1316-1326. PubMed ID: 33547824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel ATM mutations with ataxia-telangiectasia.
    Liu XL; Wang T; Huang XJ; Zhou HY; Luan XH; Shen JY; Chen SD; Cao L
    Neurosci Lett; 2016 Jan; 611():112-5. PubMed ID: 26628246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype-phenotype correlations in ataxia telangiectasia patients with
    van Os NJH; Chessa L; Weemaes CMR; van Deuren M; Fiévet A; van Gaalen J; Mahlaoui N; Roeleveld N; Schrader C; Schindler D; Taylor AMR; Van de Warrenburg BPC; Dörk T; Willemsen MAAP
    J Med Genet; 2019 May; 56(5):308-316. PubMed ID: 30819809
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.
    Amirifar P; Mehrmohamadi M; Ranjouri MR; Akrami SM; Rezaei N; Saberi A; Yazdani R; Abolhassani H; Aghamohammadi A
    J Clin Immunol; 2022 Jan; 42(1):72-84. PubMed ID: 34628594
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.
    Folgori L; Scarselli A; Angelino G; Ferrari F; Antoccia A; Chessa L; Finocchi A
    Ital J Pediatr; 2010 Apr; 36():29. PubMed ID: 20380744
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia?
    Azarsiz E; Karaca NE; Gunaydin NC; Gulez N; Ozturk C; Aksu G; Genel F; Kutukculer N
    Int J Immunopathol Pharmacol; 2014; 27(3):421-7. PubMed ID: 25280033
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
    Tabatabaiefar MA; Alipour P; Pourahmadiyan A; Fattahi N; Shariati L; Golchin N; Mohammadi-Asl J
    J Neurol Sci; 2017 Aug; 379():212-216. PubMed ID: 28716242
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
    Ruiz-Botero F; Rodríguez-Guerrero JT
    Rev Chil Pediatr; 2017; 88(4):524-528. PubMed ID: 28898322
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
    Mandola AB; Reid B; Sirror R; Brager R; Dent P; Chakroborty P; Bulman DE; Roifman CM
    Front Immunol; 2019; 10():2940. PubMed ID: 31921190
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas.
    Minto H; Mensah KA; Reynolds PR; Meffre E; Rubtsova K; Gelfand EW
    Clin Immunol; 2019 Mar; 200():55-63. PubMed ID: 30639167
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia.
    Moeini Shad T; Yousefi B; Amirifar P; Delavari S; Rae W; Kokhaei P; Abolhassani H; Aghamohammadi A; Yazdani R
    J Clin Immunol; 2021 Jan; 41(1):76-88. PubMed ID: 33052516
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.