BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 30651282)

  • 1.
    Kuhns DB; Hsu AP; Sun D; Lau K; Fink D; Griffith P; Huang DW; Priel DAL; Mendez L; Kreuzburg S; Zerbe CS; De Ravin SS; Malech HL; Holland SM; Wu X; Gallin JI
    Blood Adv; 2019 Jan; 3(2):136-147. PubMed ID: 30651282
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel Diagnostic Tool for p47
    Wrona D; Siler U; Reichenbach J
    Mol Ther Methods Clin Dev; 2019 Jun; 13():274-278. PubMed ID: 30859112
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease.
    Dekker J; de Boer M; Roos D
    Exp Hematol; 2001 Nov; 29(11):1319-25. PubMed ID: 11698128
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted Repair of p47-CGD in iPSCs by CRISPR/Cas9: Functional Correction without Cleavage in the Highly Homologous Pseudogenes.
    Klatt D; Cheng E; Philipp F; Selich A; Dahlke J; Schmidt RE; Schott JW; Büning H; Hoffmann D; Thrasher AJ; Schambach A
    Stem Cell Reports; 2019 Oct; 13(4):590-598. PubMed ID: 31543470
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes.
    Vázquez N; Lehrnbecher T; Chen R; Christensen BL; Gallin JI; Malech H; Holland S; Zhu S; Chanock SJ
    Exp Hematol; 2001 Feb; 29(2):234-43. PubMed ID: 11166463
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defining p47-phox deficient Chronic Granulomatous Disease in a Malay family.
    Gill HK; Kumar HC; Dhaliwal JS; Zabidi F; Sendut IH; Noah RM; Noh LM; Latiff AH; Murad S
    Asian Pac J Allergy Immunol; 2012 Dec; 30(4):313-20. PubMed ID: 23393912
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gene-edited pseudogene resurrection corrects p47
    Merling RK; Kuhns DB; Sweeney CL; Wu X; Burkett S; Chu J; Lee J; Koontz S; Di Pasquale G; Afione SA; Chiorini JA; Kang EM; Choi U; De Ravin SS; Malech HL
    Blood Adv; 2017 Jan; 1(4):270-278. PubMed ID: 29296942
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
    Ripen AM; Chiow MY; Rama Rao PR; Mohamad SB
    Front Immunol; 2021; 12():778133. PubMed ID: 34804071
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.
    Hayrapetyan A; Dencher PC; van Leeuwen K; de Boer M; Roos D
    Biochim Biophys Acta; 2013 Oct; 1832(10):1662-72. PubMed ID: 23688784
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
    Tajik S; Badalzadeh M; Fazlollahi MR; Houshmand M; Bazargan N; Movahedi M; Mahlouji Rad M; Mahdaviani SA; Mamishi S; Khotaei GT; Mansouri D; Zandieh F; Pourpak Z
    Scand J Immunol; 2019 Jul; 90(1):e12767. PubMed ID: 30963593
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.
    Jirapongsananuruk O; Malech HL; Kuhns DB; Niemela JE; Brown MR; Anderson-Cohen M; Fleisher TA
    J Allergy Clin Immunol; 2003 Feb; 111(2):374-9. PubMed ID: 12589359
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.
    El Hawary R; Meshaal S; Deswarte C; Galal N; Abdelkawy M; Alkady R; Elaziz DA; Freiberger T; Ravcukova B; Litzman J; Bustamante J; Boutros J; Gaafar T; Elmarsafy A
    J Clin Immunol; 2016 Aug; 36(6):610-8. PubMed ID: 27222152
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CRISPR/Cas9-generated p47
    Wrona D; Siler U; Reichenbach J
    Sci Rep; 2017 Mar; 7():44187. PubMed ID: 28287132
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.
    Görlach A; Lee PL; Roesler J; Hopkins PJ; Christensen B; Green ED; Chanock SJ; Curnutte JT
    J Clin Invest; 1997 Oct; 100(8):1907-18. PubMed ID: 9329953
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease.
    Roesler J; Curnutte JT; Rae J; Barrett D; Patino P; Chanock SJ; Goerlach A
    Blood; 2000 Mar; 95(6):2150-6. PubMed ID: 10706888
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.
    Kulkarni M; Hule G; de Boer M; van Leeuwen K; Kambli P; Aluri J; Gupta M; Dalvi A; Mhatre S; Taur P; Desai M; Madkaikar M
    J Clin Immunol; 2018 Nov; 38(8):898-916. PubMed ID: 30470980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
    Wolach B; Gavrieli R; de Boer M; van Leeuwen K; Wolach O; Grisaru-Soen G; Broides A; Etzioni A; Somech R; Roos D
    J Clin Immunol; 2018 Feb; 38(2):193-203. PubMed ID: 29411231
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.
    Baris HE; Ogulur I; Akcam B; Kiykim A; Karagoz D; Saraymen B; Akgun G; Eltan SB; Aydemir S; Akidagi Z; Bentli E; Nain E; Kasap N; Baser D; Altintas DU; Camcioglu Y; Yesil G; Ozen A; Koker MY; Karakoc-Aydiner E; Baris S
    J Allergy Clin Immunol Pract; 2020; 8(10):3525-3534.e1. PubMed ID: 32736065
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.
    de Boer M; Singh V; Dekker J; Di Rocco M; Goldblatt D; Roos D
    Prenat Diagn; 2002 Mar; 22(3):235-40. PubMed ID: 11920901
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
    Köker MY; Camcıoğlu Y; van Leeuwen K; Kılıç SŞ; Barlan I; Yılmaz M; Metin A; de Boer M; Avcılar H; Patıroğlu T; Yıldıran A; Yeğin O; Tezcan I; Sanal Ö; Roos D
    J Allergy Clin Immunol; 2013 Nov; 132(5):1156-1163.e5. PubMed ID: 23910690
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.