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Journal Abstract Search

339 related items for PubMed ID: 19775295

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  • 2. Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.
    Komvilaisak P, Yudhasompop N, Kanchanakamhaeng K, Hongeng S, Pakakasama S, Anurathapan U, Pongphitcha P, Songdej D, Sasanakul W, Sirachainan N.
    BMC Pediatr; 2023 Nov 23; 23(1):592. PubMed ID: 37993852
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  • 6. Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.
    Arunachalam AK, Suresh H, Edison ES, Korula A, Aboobacker FN, George B, Shaji RV, Mathews V, Balasubramanian P.
    J Clin Pathol; 2020 Jun 23; 73(6):322-327. PubMed ID: 31732620
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  • 7. Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropenia.
    Ye Y, Carlsson G, Wondimu B, Fahlén A, Karlsson-Sjöberg J, Andersson M, Engstrand L, Yucel-Lindberg T, Modéer T, Pütsep K.
    J Clin Immunol; 2011 Dec 23; 31(6):936-45. PubMed ID: 21796505
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  • 8. Genetic insights into congenital neutropenia.
    Klein C, Welte K.
    Clin Rev Allergy Immunol; 2010 Feb 23; 38(1):68-74. PubMed ID: 19440858
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  • 9. Digenic mutations in severe congenital neutropenia.
    Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K.
    Haematologica; 2010 Jul 23; 95(7):1207-10. PubMed ID: 20220065
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  • 10. Congenital neutropenia.
    Klein C.
    Hematology Am Soc Hematol Educ Program; 2009 Jul 23; ():344-50. PubMed ID: 20008220
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  • 11. Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
    Yeshareem L, Yacobovich J, Lebel A, Noy-Lotan S, Dgany O, Krasnov T, Berger Pinto G, Oniashvili N, Mardoukh J, Bielorai B, Laor R, Mandel-Shorer N, Ben Barak A, Levin C, Asleh M, Miskin H, Revel-Vilk S, Levin D, Benish M, Zuckerman T, Wolach O, Pazgal I, Brik Simon D, Gilad O, Yanir AD, Goldberg TA, Izraeli S, Tamary H, Steinberg-Shemer O.
    Eur J Haematol; 2024 Aug 23; 113(2):146-162. PubMed ID: 38600884
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  • 13. 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 23; 66(10):e27923. PubMed ID: 31321910
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  • 14. PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
    Olofsen PA, Bosch DA, Roovers O, van Strien PMH, de Looper HWJ, Hoogenboezem RM, Barnhoorn S, Mastroberardino PG, Ghazvini M, van der Velden VHJ, Bindels EMJ, de Pater EM, Touw IP.
    Blood Adv; 2021 Feb 09; 5(3):775-786. PubMed ID: 33560392
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  • 15. Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.
    Arun AK, Senthamizhselvi A, Hemamalini S, Edison ES, Korula A, Fouzia NA, George B, Mathews V, Balasubramanian P.
    J Clin Pathol; 2018 Dec 09; 71(12):1046-1050. PubMed ID: 30171085
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  • 16. Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
    van de Vosse E, Verhard EM, Tool AJ, de Visser AW, Kuijpers TW, Hiemstra PS, van Dissel JT.
    Ann Hematol; 2011 Feb 09; 90(2):151-8. PubMed ID: 20803142
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  • 17. Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein response.
    Garg B, Mehta HM, Wang B, Kamel R, Horwitz MS, Corey SJ.
    J Biol Chem; 2020 May 22; 295(21):7492-7500. PubMed ID: 32299910
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