These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 37193639)

  • 1. HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
    Pogozhykh D; Yilmaz Karapinar D; Klimiankou M; Gerschmann N; Ebetsberger-Dachs G; Palmblad J; Carlsson G; Masmas T; Kinsey S; Bartels M; Mellor-Heineke S; Welte K; Skokowa J; Zeidler C
    Br J Haematol; 2023 Jul; 202(2):393-411. PubMed ID: 37193639
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. Severe congenital neutropenias.
    Skokowa J; Dale DC; Touw IP; Zeidler C; Welte K
    Nat Rev Dis Primers; 2017 Jun; 3():17032. PubMed ID: 28593997
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.
    Tayal A; Meena JP; Kaur R; Tanwar P; Gupta N; Kabra M; Kabra SK
    J Pediatr Hematol Oncol; 2022 Mar; 44(2):e420-e423. PubMed ID: 33633030
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis.
    Morishima T; Watanabe K; Niwa A; Hirai H; Saida S; Tanaka T; Kato I; Umeda K; Hiramatsu H; Saito MK; Matsubara K; Adachi S; Kobayashi M; Nakahata T; Heike T
    Haematologica; 2014 Jan; 99(1):19-27. PubMed ID: 23975175
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 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. 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]  

    [Next]    [New Search]
    of 8.