BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 35525891)

  • 1. Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.
    Jeong D; Kim SM; Min BJ; Kim JH; Ju YS; Ahn YO; Yun J; Lee YE; Kwon SR; Park JH; Yoon JH; Lee DS
    Sci Rep; 2022 May; 12(1):7515. PubMed ID: 35525891
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Screening of genetic variants in
    Arunachalam AK; Suresh H; Edison ES; Korula A; Aboobacker FN; George B; Shaji RV; Mathews V; Balasubramanian P
    J Clin Pathol; 2020 Jun; 73(6):322-327. PubMed ID: 31732620
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
    Gauthier-Vasserot A; Thauvin-Robinet C; Bruel AL; Duffourd Y; St-Onge J; Jouan T; Rivière JB; Heron D; Donadieu J; Bellanné-Chantelot C; Briandet C; Huet F; Kuentz P; Lehalle D; Duplomb-Jego L; Gautier E; Maystadt I; Pinson L; Amram D; El Chehadeh S; Melki J; Julia S; Faivre L; Thevenon J
    Am J Med Genet A; 2017 Jan; 173(1):62-71. PubMed ID: 27615324
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
    Maroufi SF; Shaka Z; Mojtabavi H; Sadeghalvad M; Rayzan E; Sedighi I; Shahkarami S; Najafi M; Rohlfs M; Klein C; Rezaei N
    Endocr Metab Immune Disord Drug Targets; 2021; 21(9):1660-1668. PubMed ID: 34137364
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].
    Liu H; Liu G; Zhao P; Huang L; Zhou Y; Qiu X; Xu L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1097-1101. PubMed ID: 32924109
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characteristics of Thai patients with
    Ittiwut R; Sengpanich K; Lauhasurayotin S; Ittiwut C; Shotelersuk V; Sosothikul D; Suphapeetiporn K
    J Clin Pathol; 2022 Feb; 75(2):99-103. PubMed ID: 33318085
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
    Lebel A; Yacobovich J; Krasnov T; Koren A; Levin C; Kaplinsky C; Ravel-Vilk S; Laor R; Attias D; Ben Barak A; Shtager D; Stein J; Kuperman A; Miskin H; Dgany O; Giri N; Alter BP; Tamary H
    Pediatr Blood Cancer; 2015 Jan; 62(1):103-8. PubMed ID: 25284454
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of
    Arun AK; Senthamizhselvi A; Hemamalini S; Edison ES; Korula A; Fouzia NA; George B; Mathews V; Balasubramanian P
    J Clin Pathol; 2018 Dec; 71(12):1046-1050. PubMed ID: 30171085
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
    Arab F; Rezaei N; Taheri F; Kouhpeikar H; Rayzan E; Mirbeyk M; Zare-Abdollahi D; Ghadami M
    Iran J Allergy Asthma Immunol; 2022 Jun; 21(3):344-354. PubMed ID: 35822684
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinical and genetic analysis of four patients with congenital neutropenia].
    Zhu H; Liao Q; Gong Y; Xu B; Zhang C; Zhao H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov; 37(11):1222-1225. PubMed ID: 33179225
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia.
    Shim YJ; Kim HJ; Suh JS; Lee KS
    J Korean Med Sci; 2011 Dec; 26(12):1646-9. PubMed ID: 22148006
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.
    Shu Z; Li XH; Bai XM; Zhang ZY; Jiang LP; Tang XM; Zhao XD
    Pediatr Infect Dis J; 2015 Feb; 34(2):203-7. PubMed ID: 25162927
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
    Xia J; Bolyard AA; Rodger E; Stein S; Aprikyan AA; Dale DC; Link DC
    Br J Haematol; 2009 Nov; 147(4):535-42. PubMed ID: 19775295
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Digenic mutations in severe congenital neutropenia.
    Germeshausen M; Zeidler C; Stuhrmann M; Lanciotti M; Ballmaier M; Welte K
    Haematologica; 2010 Jul; 95(7):1207-10. PubMed ID: 20220065
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.
    Ying Y; Ye J; Chen Y; Chen Q; Chen Y; Lu X; Xi H; Gu F; Pan D; Zhao J
    Clin Chim Acta; 2022 Feb; 526():14-20. PubMed ID: 34968504
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.
    McDermott DH; De Ravin SS; Jun HS; Liu Q; Priel DA; Noel P; Takemoto CM; Ojode T; Paul SM; Dunsmore KP; Hilligoss D; Marquesen M; Ulrick J; Kuhns DB; Chou JY; Malech HL; Murphy PM
    Blood; 2010 Oct; 116(15):2793-802. PubMed ID: 20616219
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
    Choi R; Park HD; Ko JM; Lee J; Lee DH; Hong SJ; Ki CS; Lee SY; Kim JW; Song J; Choe YH
    Ann Lab Med; 2017 May; 37(3):261-266. PubMed ID: 28224773
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
    Horwitz MS; Corey SJ; Grimes HL; Tidwell T
    Hematol Oncol Clin North Am; 2013 Feb; 27(1):19-41, vii. PubMed ID: 23351986
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ultra-Sensitive
    Klimiankou M; Uenalan M; Kandabarau S; Nustede R; Steiert I; Mellor-Heineke S; Zeidler C; Skokowa J; Welte K
    Front Immunol; 2019; 10():116. PubMed ID: 30891028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
    Yılmaz Karapınar D; Patıroğlu T; Metin A; Çalışkan Ü; Celkan T; Yılmaz B; Karakaş Z; Karapınar TH; Akıncı B; Özkınay F; Onay H; Yeşilipek MA; Akar HH; Tüysüz G; Tokgöz H; Özdemir GN; Aslan Kıykım A; Karaman S; Kılınç Y; Oymak Y; Küpesiz A; Olcay L; Keskin Yıldırım Z; Aydoğan G; Gökçe M; İleri T; Aral YZ; Bay A; Atabay B; Kaya Z; Söker M; Özdemir Karadaş N; Özbek U; Özsait Selçuk B; Özdemir HH; Uygun V; Tezcan Karasu G; Yılmaz Ş
    Pediatr Blood Cancer; 2019 Oct; 66(10):e27923. PubMed ID: 31321910
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.