|1|Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report. (25705433)
Vu Q.V.... Nguyen S.N.
|2|JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family. (25851723)
Baris S.... Barlan I.B.
|3|Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. (25391451)
Notarangelo L.... Porta F.
|4|Allogeneic stem cell transplantation for patients with acute myeloid leukaemia developing from severe congenital neutropenia. (24422727)
Ebihara Y.... Tsuji K.
|5|A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. (23018568)
Aytekin C.... Ikinciogullari A.
|6|Prevalence of a new auto-activating colony stimulating factor 3 receptor mutation (CSF3R-T595I) in acute myeloid leukemia and severe congenital neutropenia. (23508011)
Beekman R.... Touw I.P.
|7|Granulocyte colony-stimulating factor receptor signaling: implications for G-CSF responses and leukemic progression in severe congenital neutropenia. (23351988)
Touw I.P.... Beekman R.
|8|Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders. (24341138)
Patiroglu T.... Unal E.
|9|Laryngeal stenosis in a patient with severe congenital neutropenia. (22628258)
Bando H.... Hisa Y.
|10|Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. (22758217)
Wali Y.... Klein C.
|11|Prevention and control of infections in patients with severe congenital neutropenia; a follow up study. (22427476)
Salehi T.... Moin M.
|12|Failure in implant rehabilitation in a patient with severe congenital neutropenia (Kostmann syndrome). (22449432)
MarA-n-BernA! M.... GutiAcrrez-PAcrez J.L.
|13|Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. (21219176)
|14|Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. (20582973)
Newburger P.E.... Boxer L.A.
|15|Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. (20065084)
Lanciotti M.... Dufour C.
|16|Novel genetic etiologies of severe congenital neutropenia. (19782549)
Boztug K.... Klein C.
|17|RAS and CSF3R mutations in severe congenital neutropenia. (19833857)
Germeshausen M.... Welte K.
|18|Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency. (19123440)
Fahimzad A.... Rezaei N.
|19|Chronic idiopathic neutropenias and severe congenital neutropenia. (18043240)
Palmblad J.... Papadaki H.A.
|20|Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. (18594157)
Rezaei N.... Hammarstrom L.
|21|Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia. (18703682)
Karlsson J.... PA1tsep K.
|22|Gut overgrowth of vancomycin-resistant enterococci (VRE) results in linezolid-resistant mutation in a child with severe congenital neutropenia: a case report. (17762497)
Verma N.... van Saene H.K.
|23|Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. (17537008)
Carlsson G.... Fadeel B.
|24|Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. (17761833)
Grenda D.S.... Link D.C.
|25|Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. (16584360)
Carlsson G.... Henter J.I.
|26|A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter. (16795059)
Matsushita H.... Miyachi H.
|27|Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. (16737875)
Boxer L.A.... Dale D.C.
|28|A comparison of cyclic neutropenia in childhood and severe congenital neutropenia. (16079089)
Grenda D.... Link D.C.
|29|Novel mechanism of G-CSF refractoriness in patients with severe congenital neutropenia. (15353486)
Druhan L.J.... Avalos B.R.
|30|Retraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family. (12531802)
Aprikyan A.A.... Henter J.I.
|31|Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. (12763135)
Aprikyan A.A.... Dale D.C.
|32|Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy. (14533448)
Horwitz M.... Benson K.F.
|33|The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports. (12731605)
TAPzA1m T.F.... Sanal O.
|34|Using fluorescence-activated cell sorting followed by fluorescence in situ hybridization to study lineage relationships: the 8;21 translocation is present in neutrophils but not monocytes in a patient with severe congenital neutropenia and a granulocyte colony-stimulating factor-responsive clonal abnormality. (12477275)
White C.... Slayton W.B.
|35|Characterization of mutant neutrophil elastase in severe congenital neutropenia. (11278653)
Li F.Q.... Horwitz M.
|36|The carboxyl terminus of the granulocyte colony-stimulating factor receptor, truncated in patients with severe congenital neutropenia/acute myeloid leukemia, is required for SH2-containing phosphatase-1 suppression of Stat activation. (11714811)
Dong F.... Larner A.C.
|37|Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia. (11071667)
Jeha S.... Albitar M.
|38|Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene. (9989983)
Hermans M.H.... Touw I.P.
|39|G-CSF receptor mutations in patients with severe congenital neutropenia do not abrogate Jak2 activation and stat1/stat3 translocation. (10372134)
Herbst A.... Welte K.
|40|Defective internalization and sustained activation of truncated granulocyte colony-stimulating factor receptor found in severe congenital neutropenia/acute myeloid leukemia. (9885206)
Ward A.C.... Touw I.P.
|41|Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. (9116280)
Tidow N.... Welte K.
|42|Dominantly inherited severe congenital neutropenia. (8890001)
Briars G.L.... Ansari B.M.
|43|Severe congenital neutropenia terminating in acute myeloid leukemia: disease progression associated with mutations in the granulocyte-colony stimulating factor receptor gene. (8913314)
Touw I.P.... Dong F.
|44|Lack of alterations in the cytoplasmic domains of the granulocyte colony-stimulating factor receptors in eight cases of severe congenital neutropenia. (7833487)
Sandoval C.... Adams-Graves P.
|45|Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. (7542747)
Dong F.... Touw I.P.
|46|Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor. (7539627)
Bishop N.J.... Prentice A.
|47|Identification of a nonsense mutation in the granulocyte-colony- stimulating factor receptor in severe congenital neutropenia. (7514305)
Dong F.... Lowenberg B.
|48|Assessment of G-CSF and GM-CSF mRNA expression in peripheral blood mononuclear cells from patients with severe congenital neutropenia and in human myeloid leukemic cell lines. (7678086)
Bernhardt T.M.... Welte K.
|49|Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia. (1371412)
Kyas U.... Welte K.
|50|Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. (1689595)
Welte K.... Riehm H.