293 related articles for article (PubMed ID: 23454784)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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. 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(1):592. PubMed ID: 37993852
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Arab F; Rezaei N; Taheri F; Kouhpeikar H; Rayzan E; Mirbeyk M; Zare-Abdollahi D; Ghadami M
Iran J Allergy Asthma Immunol; 2022 Jun; 21(3):344-354. PubMed ID: 35822684
[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. 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]
12. Spectrum of
Arun AK; Senthamizhselvi A; Hemamalini S; Edison ES; Korula A; Fouzia NA; George B; Mathews V; Balasubramanian P
J Clin Pathol; 2018 Dec; 71(12):1046-1050. PubMed ID: 30171085
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.
Lee WI; Chen SH; Huang JL; Jaing TH; Chung HT; Yeh KW; Chen LC; Yao TC; Hsieh MY; Lin SJ; Kuo ML
Immunobiology; 2013 May; 218(5):828-33. PubMed ID: 23206890
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia].
Xue SL; Chen Y; Qiu QC; Feng YF; Dai L; Qiao M; Wu DP
Zhonghua Nei Ke Za Zhi; 2011 Nov; 50(11):922-5. PubMed ID: 22333123
[TBL] [Abstract][Full Text] [Related]
17. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M; Deerberg S; Peter Y; Reimer C; Kratz CP; Ballmaier M
Hum Mutat; 2013 Jun; 34(6):905-14. PubMed ID: 23463630
[TBL] [Abstract][Full Text] [Related]
18. A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.
Sera Y; Kawaguchi H; Nakamura K; Sato T; Habara M; Okada S; Ishikawa N; Kojima S; Katoh O; Kobayashi M
Haematologica; 2005 Aug; 90(8):1032-41. PubMed ID: 16079102
[TBL] [Abstract][Full Text] [Related]
19. 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; 19(6):500-3. PubMed ID: 20128427
[TBL] [Abstract][Full Text] [Related]
20. Genetic insights into congenital neutropenia.
Klein C; Welte K
Clin Rev Allergy Immunol; 2010 Feb; 38(1):68-74. PubMed ID: 19440858
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]