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   HAX1base
   Variation registry for  Severe congenital neutropenia (Kostmann disease)


HAX1base mutation publications

[2010] [2009] [2008] [2007] [2001]

Search PubMed latest citations for HAX1 mutations

    2010

  • Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
    Lanciotti M, Indaco S, Bonanomi S, Coliva T, Mastrodicasa E, Caridi G, Calvillo M, Dufour C
    Haematologica 2010(1): 168-9 [PubMed abstract].

  • Digenic mutations in severe congenital neutropenia.
    Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K
    Haematologica 2010(7): 1207-10 [PubMed abstract].

  • A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.
    Faiyaz-Ul-Haque M, Al-Jefri A, Al-Dayel F, Bhuiyan JA, Abalkhail HA, Al-Nounou R, Al-Abdullatif A, Pulicat MS, Gaafar A, Alaiya AA, Peltekova I, Zaidi SH
    Eur J Pediatr 2010(6): 661-6 [PubMed abstract].

    2009

  • A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
    Faiyaz-Ul-Haque M, Al-Jefri A, Abalkhail HA, Toulimat M, Al-Muallimi MA, Pulicat MS, Gaafar A, Alaiya AA, Al-Dayel F, Peltekova I, Zaidi SH
    Clin Genet 2009(6): 569-72 [PubMed abstract].

  • 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(6): 1143-6 [PubMed abstract].

    2008

  • 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(10): 4954-7 [PubMed abstract].

  • 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(12): 802-7 [PubMed abstract].

    2007

  • 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(12): e123-5 [PubMed abstract].

  • 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(1): 86-92 [PubMed abstract].

    2001

  • Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.
    Carlsson G, Fasth A
    Acta Paediatr 2001(7): 757-64 [PubMed abstract].