303 related articles for article (PubMed ID: 31321910)
1. 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]
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. 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]
4. A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
Goktas S; Azizoglu ZB; Petersheim D; Erdogan M; Eke Gungor H; Bisgin A; Tuğ Bozdoğan S; Eken A; Unal E; Klein C; Patiroglu T
J Pediatr Hematol Oncol; 2022 Jan; 44(1):e62-e67. PubMed ID: 33560082
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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. 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]
9. 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]
10. 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]
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. HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient.
Aydogmus C; Cipe F; Tas M; Akinel A; Öner Ö; Keskindemirci G; Bornaun H; Kutluk G; Hocaoglu AB
Asian Pac J Allergy Immunol; 2016 Mar; 34(1):73-6. PubMed ID: 26994629
[TBL] [Abstract][Full Text] [Related]
13. Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
Fan EM; Vagher J; Meznarich JA; Ubico EM; Goteti S; Peterson D; Rayes A; Maese LD
Am J Med Genet A; 2023 May; 191(5):1434-1441. PubMed ID: 36815775
[TBL] [Abstract][Full Text] [Related]
14. Screening of genetic variants in
Arunachalam AK; Suresh H; Edison ES; Korula A; Aboobacker FN; George B; Shaji RV; Mathews V; Balasubramanian P
J Clin Pathol; 2020 Jun; 73(6):322-327. PubMed ID: 31732620
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF.
Yilmaz Karapinar D; Özdemir HH; Akinci B; Yaşar AŞ; Siviş ZÖ; Onay H; Özkinay F
J Pediatr Hematol Oncol; 2020 Apr; 42(3):e164-e166. PubMed ID: 30499904
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Ultra-Sensitive
Klimiankou M; Uenalan M; Kandabarau S; Nustede R; Steiert I; Mellor-Heineke S; Zeidler C; Skokowa J; Welte K
Front Immunol; 2019; 10():116. PubMed ID: 30891028
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Cyclic manner of neutropenia in a patient with
Cipe FE; Celiksoy MH; Erturk B; Aydogmus Ç
Pediatr Hematol Oncol; 2018 Apr; 35(3):181-185. PubMed ID: 30346863
[No Abstract] [Full Text] [Related]
[Next] [New Search]
