238 related articles for article (PubMed ID: 18513342)
1. 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]
2. 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]
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. 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]
8. 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]
9. 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]
10. [Neurological findings in severe congenital neutropenia with HAX1 mutations].
Ishikawa N; Kobayashi M
No To Hattatsu; 2009 Nov; 41(6):415-9. PubMed ID: 19928538
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Frequency of point mutations in the gene for the G-CSF receptor in patients with chronic neutropenia undergoing G-CSF therapy.
Tidow N; Pilz C; Kasper B; Welte K
Stem Cells; 1997; 15 Suppl 1():113-9; discussion 120. PubMed ID: 9368331
[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. 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]
15. 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]
16. HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
Boztug K; Ding XQ; Hartmann H; Ziesenitz L; Schäffer AA; Diestelhorst J; Pfeifer D; Appaswamy G; Kehbel S; Simon T; Al Jefri A; Lanfermann H; Klein C
Am J Med Genet A; 2010 Dec; 152A(12):3157-63. PubMed ID: 21108402
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.
Alizadeh Z; Fazlollahi MR; Eshghi P; Hamidieh AA; Ghadami M; Pourpak Z
Iran J Allergy Asthma Immunol; 2011 Sep; 10(3):227-30. PubMed ID: 21891829
[TBL] [Abstract][Full Text] [Related]
19. Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues.
Lees DM; Hart IR; Marshall JF
J Mol Biol; 2008 Jun; 379(4):645-55. PubMed ID: 18472110
[TBL] [Abstract][Full Text] [Related]
20. 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; 111(10):4954-7. PubMed ID: 18337561
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]