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Journal Abstract Search

156 related items for PubMed ID: 20182745

  • 1.
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  • 3. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
    Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K.
    Nat Genet; 2007 Jan; 39(1):86-92. PubMed ID: 17187068
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  • 4. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
    Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M.
    J Med Genet; 2008 Dec; 45(12):802-7. PubMed ID: 18611981
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  • 5. Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
    Roques G, Munzer M, Barthez MA, Beaufils S, Beaupain B, Flood T, Keren B, Bellanné-Chantelot C, Donadieu J.
    Pediatr Blood Cancer; 2014 Jun; 61(6):1041-8. PubMed ID: 24482108
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  • 7. A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
    Goktas S, Azizoglu ZB, Petersheim D, Erdogan M, Eke Gungor H, Bisgin A, Tuğ Bozdoğan S, Eken A, Unal E, Klein C, Patiroglu T.
    J Pediatr Hematol Oncol; 2022 Jan 01; 44(1):e62-e67. PubMed ID: 33560082
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  • 8. [Neurological findings in severe congenital neutropenia with HAX1 mutations].
    Ishikawa N, Kobayashi M.
    No To Hattatsu; 2009 Nov 01; 41(6):415-9. PubMed ID: 19928538
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  • 9. Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
    Carlsson G, Elinder G, Malmgren H, Trebinska A, Grzybowska E, Dahl N, Nordenskjöld M, Fadeel B.
    Pediatr Blood Cancer; 2009 Dec 01; 53(6):1143-6. PubMed ID: 19499579
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  • 10. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
    Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C.
    Blood; 2008 May 15; 111(10):4954-7. PubMed ID: 18337561
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  • 11. Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis.
    Morishima T, Watanabe K, Niwa A, Hirai H, Saida S, Tanaka T, Kato I, Umeda K, Hiramatsu H, Saito MK, Matsubara K, Adachi S, Kobayashi M, Nakahata T, Heike T.
    Haematologica; 2014 Jan 15; 99(1):19-27. PubMed ID: 23975175
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  • 12. Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
    Cekic S, Saglam H, Gorukmez O, Yakut T, Tarim O, Kilic SS.
    J Clin Immunol; 2017 Aug 15; 37(6):524-528. PubMed ID: 28681255
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  • 13. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.
    Matsubara K, Imai K, Okada S, Miki M, Ishikawa N, Tsumura M, Kato T, Ohara O, Nonoyama S, Kobayashi M.
    Haematologica; 2007 Dec 15; 92(12):e123-5. PubMed ID: 18055975
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  • 14. 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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  • 15. Association of HAX1 deficiency with neurological disorder.
    Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C.
    Neuropediatrics; 2007 Oct 23; 38(5):261-3. PubMed ID: 18330843
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  • 16. Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.
    Patiroglu T, Gungor HE, Triot A, Unal E.
    Genet Couns; 2013 Oct 23; 24(3):253-8. PubMed ID: 24341138
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  • 17. In vitro study of HAX1 gene therapy by retro viral transduction as a therapeutic target in severe congenital neutropenia.
    Farajifard H, Zavvar M, Rajaei T, Noorbakhsh F, Nikougoftar-Zarif M, Azadmanesh K, Kompani F, Rezaei N.
    Eur Cytokine Netw; 2018 Nov 01; 29(4):146-152. PubMed ID: 30698159
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  • 18. Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.
    Mamishi S, Esfahani SA, Parvaneh N, Diestelhorst J, Rezaei N.
    J Investig Allergol Clin Immunol; 2009 Nov 01; 19(6):500-3. PubMed ID: 20128427
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  • 19. 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 01; 66(10):e27923. PubMed ID: 31321910
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  • 20. Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.
    Carlsson G, van't Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, Trebińska A, Grzybowska E, Palmblad J, Dahl N, Nordenskjöld M, Fadeel B, Henter JI.
    J Intern Med; 2008 Oct 01; 264(4):388-400. PubMed ID: 18513342
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