|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|Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients. (25219109)
Dorbeker-Azcona R.... Blancas-Galicia L.
|3|A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. (24750412)
Arikoglu T.... Kuyucu S.
|4|A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. (23018568)
Aytekin C.... Ikinciogullari A.
|5|A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities. (22102707)
Xue S.L.... Wu D.P.
|6|Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. (22371884)
Beekman R.... Touw I.P.
|7|Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. (22758217)
Wali Y.... Klein C.
|8|Prevention and control of infections in patients with severe congenital neutropenia; a follow up study. (22427476)
Salehi T.... Moin M.
|9|Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. (21219176)
|10|Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia. (22148006)
Shim Y.J.... Lee K.S.
|11|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.
|12|Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia. (23056709)
Eghbali A.... Rezaei N.
|13|A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. (20182745)
Faiyaz-Ul-Haque M.... Zaidi S.H.
|14|Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. (20065084)
Lanciotti M.... Dufour C.
|15|Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. (19120359)
Zeidler C.... Welte K.
|16|Novel genetic etiologies of severe congenital neutropenia. (19782549)
Boztug K.... Klein C.
|17|Unrelated cord blood transplantation for severe congenital neutropenia: report of two cases with very different transplant courses. (18433408)
Markel M.K.... Goebel W.S.
|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|Severe congenital neutropenia and the unfolded protein response. (18043239)
Xia J.... Link D.C.
|20|Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropenia. (18213714)
Gamper C.J.... Strouse J.J.
|21|Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. (18513286)
Ward A.C.... Dror Y.
|22|Severe congenital neutropenia: new genes explain an old disease. (17917547)
Bohn G.... Klein C.
|23|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.
|24|Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. (17494858)
Link D.C.... Ley T.J.
|25|Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. (16584360)
Carlsson G.... Henter J.I.
|26|Severe congenital neutropenia: genetics and pathogenesis. (18528462)
|27|The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. (16497969)
Rosenberg P.S.... Dale D.C.
|28|A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter. (16795059)
Matsushita H.... Miyachi H.
|29|A comparison of cyclic neutropenia in childhood and severe congenital neutropenia. (16079089)
Grenda D.... Link D.C.
|30|A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. (16079102)
Sera Y.... Kobayashi M.
|31|Retraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family. (12531802)
Aprikyan A.A.... Henter J.I.
|32|Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. (12763135)
Aprikyan A.A.... Dale D.C.
|33|Acute coalescent mastoiditis and acoustic sequelae in an infant with severe congenital neutropenia. (11738697)
Matsubara K.... Baba K.
|34|Assessment of bone marrow stem cell reserve and function and stromal cell function in patients with severe congenital neutropenia. (11860446)
Papadaki H.A.... Eliopoulos G.D.
|35|Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia. (11071667)
Jeha S.... Albitar M.
|36|Granulocyte colony-stimulating factor receptor mutations in severe congenital neutropenia transforming to acute myelogenous leukemia confer resistance to apoptosis and enhance cell survival. (10706885)
Hunter M.G.... Avalos B.R.
|37|Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. (10666190)
Zeidler C.... Levine J.E.
|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|Alkaline phosphatase activity in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome). (10643149)
Baranova K.... Welte K.
|40|G-CSF receptor mutations in patients with severe congenital neutropenia do not abrogate Jak2 activation and stat1/stat3 translocation. (10372134)
Herbst A.... Welte K.
|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|Cytokine profile during high-dose rhG-CSF therapy in severe congenital neutropenia. (7504401)
Shitara T.... Kuroume T.
|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|Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. (1708293)
Mempel K.... Welte K.
|50|Severe congenital neutropenia with unique features of dysgranulopoiesis. (3966463)
Lightsey A.L.... Boxer L.A.