These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 19499579)

  • 1. 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; 53(6):1143-6. PubMed ID: 19499579
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 264(4):388-400. PubMed ID: 18513342
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
    Smith BN; Ancliff PJ; Pizzey A; Khwaja A; Linch DC; Gale RE
    Br J Haematol; 2009 Mar; 144(5):762-70. PubMed ID: 19036076
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.
    Carlsson G; Aprikyan AA; Ericson KG; Stein S; Makaryan V; Dale DC; Nordenskjöld M; Fadeel B; Palmblad J; Hentera JI
    Haematologica; 2006 May; 91(5):589-95. PubMed ID: 16670064
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
    Carlsson G; Kriström B; Nordenskjöld M; Henter JI; Fadeel B
    Acta Paediatr; 2013 Jan; 102(1):78-82. PubMed ID: 23050867
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Association of HAX1 deficiency with neurological disorder.
    Rezaei N; Chavoshzadeh Z; R Alaei O; Sandrock I; Klein C
    Neuropediatrics; 2007 Oct; 38(5):261-3. PubMed ID: 18330843
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. HAX1 mutation in an infant with severe congenital neutropenia.
    Eghbali A; Eshghi P; Malek F; Abdollahpour H; Rezaei N
    Turk J Pediatr; 2010; 52(1):81-4. PubMed ID: 20402072
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe congenital neutropenia: new genes explain an old disease.
    Bohn G; Welte K; Klein C
    Curr Opin Rheumatol; 2007 Nov; 19(6):644-50. PubMed ID: 17917547
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
    Zeidler C; Germeshausen M; Klein C; Welte K
    Br J Haematol; 2009 Feb; 144(4):459-67. PubMed ID: 19120359
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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 Dec; 76(6):569-72. PubMed ID: 19796188
    [No Abstract]   [Full Text] [Related]  

  • 15. 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 Jun; 169(6):661-6. PubMed ID: 20182745
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.
    Setty BA; Yeager ND; Bajwa RP
    Pediatr Blood Cancer; 2011 Sep; 57(3):514-5. PubMed ID: 21618407
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel genetic etiologies of severe congenital neutropenia.
    Boztug K; Klein C
    Curr Opin Immunol; 2009 Oct; 21(5):472-80. PubMed ID: 19782549
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.
    Rezaei N; Aghamohammadi A; Ramyar A; Pan-Hammarstrom Q; Hammarstrom L
    Int Arch Allergy Immunol; 2008; 147(3):255-9. PubMed ID: 18594157
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.
    Patiroglu T; Gungor HE; Triot A; Unal E
    Genet Couns; 2013; 24(3):253-8. PubMed ID: 24341138
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe congenital neutropenia: a case study.
    Parker LA
    Neonatal Netw; 1997 Dec; 16(8):17-21. PubMed ID: 9429449
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.