Published in Curr Opin Allergy Clin Immunol on December 01, 2007
A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med (2009) 2.30
A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med (2013) 0.92
Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase. Mol Cell Biol (2009) 0.89
The eEF1γ subunit contacts RNA polymerase II and binds vimentin promoter region. PLoS One (2010) 0.87
Dynamic interactions of neutrophils and biofilms. J Oral Microbiol (2014) 0.84
Animal models of human granulocyte diseases. Hematol Oncol Clin North Am (2012) 0.76
Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia. Iran J Pediatr (2010) 0.75
Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia. J Clin Immunol (2015) 0.75
Neutrophils and immunity: challenges and opportunities. Nat Rev Immunol (2006) 12.29
Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity. Science (1999) 11.96
Novel cell death program leads to neutrophil extracellular traps. J Cell Biol (2007) 10.92
Endoplasmic reticulum stress: cell life and death decisions. J Clin Invest (2005) 8.45
How neutrophils kill microbes. Annu Rev Immunol (2005) 6.87
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet (2000) 5.11
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell (1999) 4.67
Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet (2002) 4.62
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. Bull Johns Hopkins Hosp (1965) 4.23
THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION. J Pediatr (1964) 4.12
Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis. Nat Med (1998) 4.04
Recombinant human granulocyte colony-stimulating factor: effects on normal and leukemic myeloid cells. Science (1986) 3.92
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci (1983) 3.70
A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet (1996) 3.58
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood (2000) 3.45
Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood (1959) 3.30
Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity (2003) 3.17
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A (2000) 3.07
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet (2006) 3.03
Localization of the MP1-MAPK scaffold complex to endosomes is mediated by p14 and required for signal transduction. Dev Cell (2002) 2.98
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98
Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice. Immunity (1996) 2.95
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet (2003) 2.88
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. Nat Genet (2002) 2.87
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med (2006) 2.85
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med (1995) 2.85
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood (2006) 2.82
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS. Acta Paediatr (1964) 2.61
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet (2007) 2.58
Bacterial pathogens modulate an apoptosis differentiation program in human neutrophils. Proc Natl Acad Sci U S A (2003) 2.54
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet (1996) 2.53
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet (2003) 2.43
A novel 14-kilodalton protein interacts with the mitogen-activated protein kinase scaffold mp1 on a late endosomal/lysosomal compartment. J Cell Biol (2001) 2.42
The antiapoptotic protein Mcl-1 is essential for the survival of neutrophils but not macrophages. Blood (2006) 2.40
Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature (1996) 2.40
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet (1999) 2.38
Energy metabolism of human neutrophils during phagocytosis. J Clin Invest (1982) 2.37
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr (1979) 2.32
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood (1993) 2.29
A syndrome associating partial albinism and immunodeficiency. Am J Med (1978) 2.19
Benign ethnic neutropenia: what is a normal absolute neutrophil count? J Lab Clin Med (1999) 2.17
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr (1991) 2.17
p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis. J Cell Biol (2006) 2.15
The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet (1999) 2.09
Linking albinism and immunity: the secrets of secretory lysosomes. Science (2004) 2.07
Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood (2006) 2.03
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr (1973) 1.98
HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. J Immunol (1997) 1.98
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood (2006) 1.93
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett (1997) 1.86
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83
Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase. Tohoku J Exp Med (1954) 1.83
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A (2004) 1.82
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood (2006) 1.80
Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. Blood (1998) 1.79
G-CSF down-regulation of CXCR4 expression identified as a mechanism for mobilization of myeloid cells. Blood (2006) 1.76
Accelerated neutrophil apoptosis in mice lacking A1-a, a subtype of the bcl-2-related A1 gene. J Exp Med (1998) 1.75
Neutrophils undergo apoptosis following ingestion of Escherichia coli. J Immunol (1996) 1.74
Neutrophil elastase in cyclic and severe congenital neutropenia. Blood (2006) 1.74
Cardiolipin and apoptosis. Biochim Biophys Acta (2002) 1.70
Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med (1989) 1.67
A Drosophila model of Barth syndrome. Proc Natl Acad Sci U S A (2006) 1.65
Functional characterization of mitochondria in neutrophils: a role restricted to apoptosis. Cell Death Differ (2004) 1.65
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood (2004) 1.65
Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl (1956) 1.59
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood (2004) 1.58
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet (2000) 1.58
[New leukocyte anomaly of constitutional and familial character]. Rev Hematol (1952) 1.57
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med (2006) 1.52
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet (1984) 1.50
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr (1999) 1.47
Identification of the murine beige gene by YAC complementation and positional cloning. Nat Genet (1996) 1.46
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. Eur J Pediatr (1993) 1.43
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood (2006) 1.42
Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr (1994) 1.42
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr (2000) 1.41
Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta. J Clin Invest (2007) 1.41
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet (2002) 1.39
The kinetics of human granulopoiesis following treatment with granulocyte colony-stimulating factor in vivo. Proc Natl Acad Sci U S A (1989) 1.38
Severe congenital neutropenia. Semin Hematol (2006) 1.38
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res (2002) 1.37
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet (2003) 1.36
Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor. Proc Natl Acad Sci U S A (2006) 1.36
Biologic and clinical effects of granulocyte colony-stimulating factor in normal individuals. Blood (1996) 1.33
The mitochondrial network of human neutrophils: role in chemotaxis, phagocytosis, respiratory burst activation, and commitment to apoptosis. J Immunol (2003) 1.32
Calpain-1 regulates Bax and subsequent Smac-dependent caspase-3 activation in neutrophil apoptosis. J Biol Chem (2003) 1.31
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood (2006) 1.28
Regulation of HAX-1 anti-apoptotic protein by Omi/HtrA2 protease during cell death. J Biol Chem (2004) 1.28
Cathepsin-cleaved Bid promotes apoptosis in human neutrophils via oxidative stress-induced lysosomal membrane permeabilization. J Leukoc Biol (2007) 1.28
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease. J Pediatr (1980) 1.27
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet (2003) 1.26
Characterization of mutant neutrophil elastase in severe congenital neutropenia. J Biol Chem (2001) 1.26
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. Proc Natl Acad Sci U S A (1994) 1.25
The mitochondrial death squad: hardened killers or innocent bystanders? Curr Opin Cell Biol (2005) 1.22
A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. Mol Cell Biol (2004) 1.21
Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood (2006) 1.19
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med (2009) 7.53
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology (2012) 3.28
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med (2010) 3.09
Magnetic resonance perfusion measurements for the noninvasive detection of coronary artery disease. Circulation (2003) 3.04
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med (2006) 2.85
Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment. Nat Med (2007) 2.41
A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med (2009) 2.30
Assessment of diffuse myocardial fibrosis in rats using small-animal Look-Locker inversion recovery T1 mapping. Circ Cardiovasc Imaging (2011) 2.21
Magnetic resonance low-dose dobutamine test is superior to SCAR quantification for the prediction of functional recovery. Circulation (2004) 2.20
p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis. J Cell Biol (2006) 2.15
HER2 status of circulating tumor cells in patients with metastatic breast cancer: a prospective, multicenter trial. Breast Cancer Res Treat (2010) 2.12
OpenMM 4: A Reusable, Extensible, Hardware Independent Library for High Performance Molecular Simulation. J Chem Theory Comput (2012) 2.07
Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity. Sci Transl Med (2014) 2.00
The phenotype of human STK4 deficiency. Blood (2012) 1.84
Phase II window study on rituximab in newly diagnosed pediatric mature B-cell non-Hodgkin's lymphoma and Burkitt leukemia. J Clin Oncol (2010) 1.79
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood (2013) 1.74
Safety and feasibility of high-dose dobutamine-atropine stress cardiovascular magnetic resonance for diagnosis of myocardial ischaemia: experience in 1000 consecutive cases. Eur Heart J (2004) 1.68
Long-term prognostic value of dobutamine stress CMR. JACC Cardiovasc Imaging (2011) 1.64
Transapical aortic valve implantation in 194 patients: problems, complications, and solutions. Ann Thorac Surg (2010) 1.62
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis (2013) 1.59
WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo. J Leukoc Biol (2005) 1.59
A phase 1/2 trial of arginine butyrate and ganciclovir in patients with Epstein-Barr virus-associated lymphoid malignancies. Blood (2006) 1.57
A prospective study for comparison of MR and CT imaging for detection of coronary artery stenosis. JACC Cardiovasc Imaging (2011) 1.57
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol (2011) 1.43
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. Am J Med Genet A (2010) 1.40
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet (2002) 1.39
Minimal analytical characterization of engineered nanomaterials needed for hazard assessment in biological matrices. Nanotoxicology (2010) 1.38
Clinical evaluation of all-ceramic crowns fabricated from intraoral digital impressions based on the principle of active wavefront sampling. J Dent (2010) 1.37
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol (2012) 1.30
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood (2008) 1.30
IL-10 and IL-10 receptor defects in humans. Ann N Y Acad Sci (2011) 1.29
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood (2006) 1.28
The transcriptional repressor Gfi1 controls STAT3-dependent dendritic cell development and function. Immunity (2005) 1.22
Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein. Gastroenterology (2007) 1.21
Perception of effort reflects central motor command during movement execution. Psychophysiology (2012) 1.20
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol (2008) 1.16
Role of syndecan-1 in leukocyte-endothelial interactions in the ocular vasculature. Invest Ophthalmol Vis Sci (2002) 1.11
CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation. J Clin Oncol (2007) 1.10
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology (2011) 1.08
Absolute myoglobin quantitation in serum by combining two-dimensional liquid chromatography-electrospray ionization mass spectrometry and novel data analysis algorithms. J Proteome Res (2006) 1.07
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells. J Exp Med (2013) 1.07
Prognostic value of myocardial infarct size and contractile reserve using magnetic resonance imaging. J Am Coll Cardiol (2009) 1.06
Intraindividual variability in ADHD and its implications for research of causal links. Curr Top Behav Neurosci (2012) 1.05
Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro. Exp Hematol (2006) 1.03
Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy. Mol Pharm (2011) 1.03
Working memory load for faces modulates P300, N170, and N250r. J Cogn Neurosci (2008) 1.03
Prognostic impact of matrix metalloproteinase-9 in operable non-small cell lung cancer. Int J Cancer (2003) 0.99
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr (2011) 0.99
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation. J Clin Immunol (2014) 0.98
Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr (2011) 0.97
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood (2013) 0.97
Evaluation of contrast wash-in and peak enhancement in adenosine first pass perfusion CMR in patients post bypass surgery. J Cardiovasc Magn Reson (2010) 0.96
Development of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome. Curr Opin Mol Ther (2006) 0.96
Molecular basis of congenital neutropenia. Haematologica (2009) 0.96
Assessment of neuropsychological parameters and quality of life to evaluate outcome in patients with surgically treated supratentorial meningiomas. Neurosurgery (2009) 0.95
Intrathecal rituximab treatment for pediatric post-transplant lymphoproliferative disorder of the central nervous system. Pediatr Blood Cancer (2008) 0.95
Mapping brain activation and information during category-specific visual working memory. J Neurophysiol (2011) 0.93
Prevalence, phenotype and inheritance of benign neutropenia in Arabs. BMC Blood Disord (2009) 0.93
A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med (2013) 0.92
Congenital neutropenia syndromes. Immunol Allergy Clin North Am (2008) 0.92
On the functional significance of Novelty-P3: facilitation by unexpected novel sounds. Biol Psychol (2009) 0.92
Neutropenia and primary immunodeficiency diseases. Int Rev Immunol (2009) 0.92
Reevaluation of bone marrow-derived cells as a source for hepatocyte regeneration. Cell Transplant (2004) 0.92
Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol (2009) 0.91
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. Curr Opin Allergy Clin Immunol (2013) 0.90
Characteristics of early and late PTLD development in pediatric solid organ transplant recipients. Transplantation (2013) 0.89
Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and men. Curr Opin Immunol (2008) 0.89
Retracted Transcriptional repressor Gfi1 integrates cytokine-receptor signals controlling B-cell differentiation. PLoS One (2007) 0.88
Attention modulates motor system activation during action observation: evidence for inhibitory rebound. Exp Brain Res (2010) 0.88
Gαi2- and Gαi3-specific regulation of voltage-dependent L-type calcium channels in cardiomyocytes. PLoS One (2011) 0.88
High resolution magnetic resonance imaging in atherosclerotic mice treated with ezetimibe. Int J Cardiovasc Imaging (2009) 0.88
A hundred years of eye movement research in psychiatry. Brain Cogn (2008) 0.87
Approaches to the safety assessment of engineered nanomaterials (ENM) in food. Food Chem Toxicol (2011) 0.87
Cytotoxic T cells reactive to an immunodominant leukemia-associated antigen can be specifically primed and expanded by combining a specific priming step with nonspecific large-scale expansion. J Immunother (2008) 0.87
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. J Exp Med (2010) 0.87
An in vitro pyrogen safety test for immune-stimulating components on surfaces. Biomaterials (2006) 0.86
A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression. EMBO J (2012) 0.86
Electrocortical correlates of intra-subject variability in reaction times: average and single-trial analyses. Biol Psychol (2011) 0.86
Points of reference in the validation process: the report and recommendations of ECVAM Workshop 66. Altern Lab Anim (2008) 0.86
MAPKAP kinase MK2 maintains self-renewal capacity of haematopoietic stem cells. EMBO J (2009) 0.85
Myocardial perfusion imaging using OMNISCAN: a dose finding study for visual assessment of stress-induced regional perfusion abnormalities. J Cardiovasc Magn Reson (2004) 0.85
Severe congenital neutropenia: new genes explain an old disease. Curr Opin Rheumatol (2007) 0.85
A bi-center cardiovascular magnetic resonance prognosis study focusing on dobutamine wall motion and late gadolinium enhancement in 3,138 consecutive patients. J Am Coll Cardiol (2013) 0.85
On the temporal characteristics of performance variability in attention deficit hyperactivity disorder (ADHD). PLoS One (2013) 0.85
Real-time MR image acquisition during high-dose dobutamine hydrochloride stress for detecting left ventricular wall-motion abnormalities in patients with coronary arterial disease. Radiology (2002) 0.84
Small animal Look-Locker inversion recovery (SALLI) for simultaneous generation of cardiac T1 maps and cine and inversion recovery-prepared images at high heart rates: initial experience. Radiology (2011) 0.84
High-dose dobutamine-atropine stress cardiovascular MR imaging after coronary revascularization in patients with wall motion abnormalities at rest. Radiology (2004) 0.84
Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency. Curr Opin Pediatr (2014) 0.83
Very early-onset inflammatory bowel disease: gaining insight through focused discovery. Inflamm Bowel Dis (2015) 0.82
Is reaction time variability consistent across sensory modalities? Insights from latent variable analysis of single-trial P3b latencies. Biol Psychol (2012) 0.82
A case of syndromic neutropenia and mutation in G6PC3. J Pediatr Hematol Oncol (2011) 0.82
The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol (2007) 0.81
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. Hematol Oncol Clin North Am (2012) 0.81
Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr (2016) 0.81
Pain reduction in children during port-à-cath catheter puncture using local anaesthesia with EMLA™. Eur J Pediatr (2010) 0.81
Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient. Haematologica (2007) 0.81
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol (2012) 0.80