BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 16737875)

  • 1. Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.
    Boxer LA; Stein S; Buckley D; Bolyard AA; Dale DC
    J Pediatr; 2006 May; 148(5):633-6. PubMed ID: 16737875
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.
    Malcov M; Reches A; Ben-Yosef D; Cohen T; Amit A; Dgany O; Tamary H; Yaron Y
    Prenat Diagn; 2010 Mar; 30(3):207-11. PubMed ID: 20049848
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Molecular screening of the neutrophil elastase gene in congenital neutropenia.
    Thomas M; Jayandharan G; Chandy M
    Indian Pediatr; 2006 Dec; 43(12):1081-4. PubMed ID: 17202606
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
    Ancliff PJ; Gale RE; Liesner R; Hann IM; Linch DC
    Blood; 2001 Nov; 98(9):2645-50. PubMed ID: 11675333
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
    Salipante SJ; Benson KF; Luty J; Hadavi V; Kariminejad R; Kariminejad MH; Rezaei N; Horwitz MS
    Hum Mutat; 2007 Sep; 28(9):874-81. PubMed ID: 17436313
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
    Horwitz M; Benson KF; Person RE; Aprikyan AG; Dale DC
    Nat Genet; 1999 Dec; 23(4):433-6. PubMed ID: 10581030
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden.
    Carlsson G; Aprikyan AA; Ericson KG; Stein S; Makaryan V; Dale DC; Nordenskjöld M; Fadeel B; Palmblad J; Hentera JI
    Haematologica; 2006 May; 91(5):589-95. PubMed ID: 16670064
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
    Benson KF; Li FQ; Person RE; Albani D; Duan Z; Wechsler J; Meade-White K; Williams K; Acland GM; Niemeyer G; Lothrop CD; Horwitz M
    Nat Genet; 2003 Sep; 35(1):90-6. PubMed ID: 12897784
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene.
    Lanciotti M; Caridi G; Rosano C; Pigullo S; Lanza T; Dufour C
    Br J Haematol; 2009 Sep; 146(5):578-80. PubMed ID: 19594744
    [No Abstract]   [Full Text] [Related]  

  • 12. Severe congenital neutropenia and the unfolded protein response.
    Xia J; Link DC
    Curr Opin Hematol; 2008 Jan; 15(1):1-7. PubMed ID: 18043239
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.
    Newburger PE; Pindyck TN; Zhu Z; Bolyard AA; Aprikyan AA; Dale DC; Smith GD; Boxer LA
    Pediatr Blood Cancer; 2010 Aug; 55(2):314-7. PubMed ID: 20582973
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ela2 mutations and clinical manifestations in familial congenital neutropenia.
    Shiohara M; Shigemura T; Saito S; Tanaka M; Yanagisawa R; Sakashita K; Asada H; Ishii E; Koike K; Chin M; Kobayashi M; Koike K
    J Pediatr Hematol Oncol; 2009 May; 31(5):319-24. PubMed ID: 19415009
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter.
    Matsushita H; Asai S; Komiya S; Inoue H; Yabe H; Miyachi H
    Am J Hematol; 2006 Dec; 81(12):985-6. PubMed ID: 16795059
    [No Abstract]   [Full Text] [Related]  

  • 17. A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
    Lee ST; Yoon HS; Kim HJ; Lee JH; Park JH; Kim SH; Seo JJ; Im HJ
    Ann Hematol; 2009 Jun; 88(6):593-5. PubMed ID: 18946670
    [No Abstract]   [Full Text] [Related]  

  • 18. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.