314 related articles for article (PubMed ID: 20220065)
1. 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]
2. Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A; Yacobovich J; Krasnov T; Koren A; Levin C; Kaplinsky C; Ravel-Vilk S; Laor R; Attias D; Ben Barak A; Shtager D; Stein J; Kuperman A; Miskin H; Dgany O; Giri N; Alter BP; Tamary H
Pediatr Blood Cancer; 2015 Jan; 62(1):103-8. PubMed ID: 25284454
[TBL] [Abstract][Full Text] [Related]
3. Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations).
Alizadeh Z; Fazlollahi MR; Houshmand M; Maddah M; Chavoshzadeh Z; Hamidieh AA; Shamsian BS; Eshghi P; Bolandghamat Pour S; Sadaaie Jahromi H; Mansouri M; Movahedi M; Nayebpour M; Pourpak Z; Moin M
Iran J Allergy Asthma Immunol; 2013 Mar; 12(1):86-92. PubMed ID: 23454784
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka S; Wynn R; Byers H; Arkwright PD; Newman WG
Mol Genet Metab; 2013 Feb; 108(2):138-41. PubMed ID: 23298686
[TBL] [Abstract][Full Text] [Related]
8. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J; Bolyard AA; Rodger E; Stein S; Aprikyan AA; Dale DC; Link DC
Br J Haematol; 2009 Nov; 147(4):535-42. PubMed ID: 19775295
[TBL] [Abstract][Full Text] [Related]
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; 53(6):1143-6. PubMed ID: 19499579
[TBL] [Abstract][Full Text] [Related]
10. Four novel ELANE mutations in patients with congenital neutropenia.
Kurnikova M; Maschan M; Dinova E; Shagina I; Finogenova N; Mamedova E; Polovtseva T; Shagin D; Shcherbina A
Pediatr Blood Cancer; 2011 Aug; 57(2):332-5. PubMed ID: 21425445
[TBL] [Abstract][Full Text] [Related]
11. A case of syndromic neutropenia and mutation in G6PC3.
Gatti S; Boztug K; Pedini A; Pasqualini C; Albano V; Klein C; Pierani P
J Pediatr Hematol Oncol; 2011 Mar; 33(2):138-40. PubMed ID: 21285905
[TBL] [Abstract][Full Text] [Related]
12. A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.
Aytekin C; Germeshausen M; Tuygun N; Dogu F; Ikinciogullari A
J Pediatr Hematol Oncol; 2013 Mar; 35(2):e81-3. PubMed ID: 23018568
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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; 66(10):e27923. PubMed ID: 31321910
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]