BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 22333123)

  • 1. [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]  

  • 2. [Diagnosis and treatment procedures of congenital neutropenia].
    Qiao M; Xue SL; Zou JY; Dai L; Liu HW; Chen Y; Sun AN; Wu DP
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2012 Oct; 20(5):1221-4. PubMed ID: 23114152
    [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. 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]  

  • 5. 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]  

  • 6. A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.
    Xue SL; Li JL; Zou JY; Su J; Chen SN; Wu DP
    Haematologica; 2012 Feb; 97(2):318-20. PubMed ID: 22102707
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 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. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. 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]  

  • 17. Congenital neutropenia.
    Klein C
    Hematology Am Soc Hematol Educ Program; 2009; ():344-50. PubMed ID: 20008220
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.
    Faiyaz-Ul-Haque M; Al-Jefri A; Al-Dayel F; Bhuiyan JA; Abalkhail HA; Al-Nounou R; Al-Abdullatif A; Pulicat MS; Gaafar A; Alaiya AA; Peltekova I; Zaidi SH
    Eur J Pediatr; 2010 Jun; 169(6):661-6. PubMed ID: 20182745
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.