1 |
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
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56
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Rosenberg PS...Dale DC
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18028488 |
2008 |
2 |
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
6
56
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Dale DC...Horwitz M
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11001877 |
2000 |
3 |
Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.
56
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Klimiankou M...Skokowa J
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27270496 |
2016 |
4 |
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
56
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Smith BN...Gale RE
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19036076 |
2009 |
5 |
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
56
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Ishikawa N...Kobayashi M
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18611981 |
2008 |
6 |
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
6
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Salipante SJ...Horwitz MS
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17436313 |
2007 |
7 |
Severe congenital neutropenia: inheritance and pathophysiology.
56
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Skokowa J...Welte K
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17133096 |
2007 |
8 |
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia.
56
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Skokowa J...Welte K
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17063141 |
2006 |
9 |
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
6
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Bellanne-Chantelot C...Donadieu J
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14962902 |
2004 |
10 |
ELANE-Related Neutropenia
6
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Dale DC...Makaryan V
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20301705 |
2002 |
11 |
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.
6
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Ancliff PJ...Linch DC
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11675333 |
2001 |
12 |
Immunodeficiency diseases caused by defects in phagocytes.
56
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Lekstrom-Himes JA...Gallin JI
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11106721 |
2000 |
13 |
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy.
56
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Freedman MH...Dale DC
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10887102 |
2000 |
14 |
Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia.
56
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McLemore ML...Link DC
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9691084 |
1998 |
15 |
Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia.
56
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Hermans MH...Touw IP
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9639496 |
1998 |
16 |
High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome).
56
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Yakisan E...Welte K
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9386665 |
1997 |
17 |
Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.
56
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Tidow N...Welte K
|
9116280 |
1997 |
18 |
Pathophysiology and treatment of severe chronic neutropenia.
56
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Welte K...Dale D
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8624368 |
1996 |
19 |
The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia.
56
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Rauprich P...Welte K
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8541539 |
1995 |
20 |
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia.
56
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Dong F...Touw IP
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7542747 |
1995 |
21 |
Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias.
56
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Bonilla MA...Welte K
|
7529539 |
1994 |
22 |
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.
56
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Dong F...Lowenberg B
|
7514305 |
1994 |
23 |
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.
56
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Dale DC...Lalezari P
|
8490166 |
1993 |
24 |
Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis.
56
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Bonilla MA...O'Reilly RJ
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2471075 |
1989 |
25 |
Congenital agranulocytosis terminating in acute myelomonocytic leukemia.
56
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Rosen RB...Kang SJ
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284110 |
1979 |
26 |
Infantile genetic agranulocytosis and acute lymphocytic leukemia in two sibs.
56
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Lui V...Frauen B
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275472 |
1978 |
27 |
Congenital neutropenia: in vitro growth of colonies mimicking the disease.
56
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L'Esperance P...Good RA
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4514979 |
1973 |
28 |
In vitro induction of myeloid proliferation and maturation in infantile genetic agranulocytosis.
56
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Barak Y...Sachs L
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4326838 |
1971 |
29 |
Congenital agranulocytosis: prolonged survival and terminal acute leukemia.
56
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Gilman PA...Guild HG
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4319697 |
1970 |
30 |
Familial neutropenia possibly caused by deficiency of a plasma factor.
56
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BJURE J...PLUM CM
|
13971340 |
1962 |
31 |
Lethal congenital neutropenia with eosinophilia occurring in two siblings.
56
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ANDREWS JP...SCOTT CH
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13683481 |
1960 |
32 |
Infantile agranulocytosis of probably congenital origin.
56
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HEDENBERG F
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13626582 |
1959 |
33 |
Focal and generalized seizure activity after local hippocampal or cortical ablation of NaV 1.1 channels in mice.
61
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Jansen NA...van den Maagdenberg AMJM
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32190912 |
2020 |
34 |
Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.
61
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Du J...Lal D
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31928904 |
2020 |
35 |
Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios.
61
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Negussie E...Lidauer MH
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31155258 |
2019 |
36 |
Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations.
61
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Liu Q...Forsman H
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31176364 |
2019 |
37 |
ß-Cyanoalanine Synthase Action in Root Hair Elongation is Exerted at Early Steps of the Root Hair Elongation Pathway and is Independent of Direct Cyanide Inactivation of NADPH Oxidase.
61
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Arenas-Alfonseca L...Garcia I
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29490083 |
2018 |
38 |
Role of mitochondrial cyanide detoxification in Arabidopsis root hair development.
61
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2018 |
39 |
Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening.
61
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Griffin A...Baraban SC
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29915537 |
2018 |
40 |
Arabidopsis PROTEIN S-ACYL TRANSFERASE4 mediates root hair growth.
61
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Wan ZY...Li S
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28107768 |
2017 |
41 |
Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome.
61
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Griffin A...Baraban SC
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28073790 |
2017 |
42 |
Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation.
61
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Aoki H...Horie M
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28217227 |
2017 |
43 |
PLURIPETALA mediates ROP2 localization and stability in parallel to SCN1 but synergistically with TIP1 in root hairs.
61
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Chai S...Zhang Y
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27037800 |
2016 |
44 |
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
61
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Peeters U...Van Dooren S
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26179811 |
2015 |
45 |
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
61
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Olesen MS...Svendsen JH
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24144883 |
2014 |
46 |
Genomic instability of gold nanoparticle treated human lung fibroblast cells.
61
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Li JJ...Yung LY
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21543115 |
2011 |
47 |
Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.
61
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Valdivia CR...Makielski JC
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20042427 |
2010 |
48 |
[Association study of the SCN1 gene polymorphism and effective dose of lamotrigine].
61
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Krikova EV...Burd SG
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20037572 |
2009 |
49 |
A RhoGDP dissociation inhibitor spatially regulates growth in root hair cells.
61
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Carol RJ...Dolan L
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16355224 |
2005 |
50 |
Suppression of a mitotic mutant by tRNA-Ala anticodon mutations that produce a dominant defect in late mitosis.
61
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Kimata Y...Yanagida M
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15126629 |
2004 |