184 related articles for article (PubMed ID: 28169428)
1. HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
Karapınar TH; Yılmaz Karapinar D; Oymak Y; Ay Y; Demirağ B; Aykut A; Onay H; Hazan F; Aydınok Y; Özkınay F; Vergin C
Br J Haematol; 2017 May; 177(4):597-600. PubMed ID: 28169428
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. A zebrafish model for HAX1-associated congenital neutropenia.
Doll L; Aghaallaei N; Dick AM; Welte K; Skokowa J; Bajoghli B
Haematologica; 2021 May; 106(5):1311-1320. PubMed ID: 32327498
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF.
Yilmaz Karapinar D; Akinci B; Şahin Yaşar A; Hekimci Özdemir H; Önder Siviş Z; Onay H; Özkinay F
J Pediatr Hematol Oncol; 2019 Apr; 41(3):e190-e192. PubMed ID: 30028820
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
Klein C
J Clin Immunol; 2017 Feb; 37(2):117-122. PubMed ID: 27943080
[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. Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.
Cekic S; Saglam H; Gorukmez O; Yakut T; Tarim O; Kilic SS
J Clin Immunol; 2017 Aug; 37(6):524-528. PubMed ID: 28681255
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [Molecular analysis of two cases of severe congenital neutropenia].
Park J; Kim M; Lim J; Kim Y; Cho B; Park YJ; Han K
Korean J Lab Med; 2010 Apr; 30(2):111-6. PubMed ID: 20445326
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
