Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Why rare diseases are an important medical and social issue.
|
Lancet
|
2008
|
4.20
|
2
|
Talking about death with children who have severe malignant disease.
|
N Engl J Med
|
2004
|
3.92
|
3
|
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
|
Nat Genet
|
2006
|
3.03
|
4
|
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
|
Hum Mol Genet
|
2005
|
2.70
|
5
|
Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification.
|
Blood
|
2007
|
2.61
|
6
|
Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis.
|
Blood
|
2013
|
2.46
|
7
|
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol.
|
Blood
|
2011
|
2.35
|
8
|
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
|
Blood
|
2007
|
2.32
|
9
|
Langerhans cell histiocytosis reveals a new IL-17A-dependent pathway of dendritic cell fusion.
|
Nat Med
|
2007
|
2.21
|
10
|
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.
|
Blood
|
2012
|
1.92
|
11
|
Long-term follow-up of Langerhans cell histiocytosis: 39 years' experience at a single centre.
|
Acta Paediatr
|
2005
|
1.72
|
12
|
Parents' intellectual and emotional awareness of their child's impending death to cancer: a population-based long-term follow-up study.
|
Lancet Oncol
|
2007
|
1.67
|
13
|
Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis.
|
Br J Haematol
|
2005
|
1.64
|
14
|
A population-based nationwide study of parents' perceptions of a questionnaire on their child's death due to cancer.
|
Lancet
|
2004
|
1.64
|
15
|
Parvovirus B19 infection in children with acute lymphoblastic leukemia is associated with cytopenia resulting in prolonged interruptions of chemotherapy.
|
Clin Infect Dis
|
2008
|
1.55
|
16
|
Duration and morbidity of newly diagnosed idiopathic thrombocytopenic purpura in children: A prospective Nordic study of an unselected cohort.
|
J Pediatr
|
2003
|
1.54
|
17
|
Incidence and pattern of radiological central nervous system Langerhans cell histiocytosis in children: a population based study.
|
Pediatr Blood Cancer
|
2011
|
1.54
|
18
|
Anxiety and depression in parents 4-9 years after the loss of a child owing to a malignancy: a population-based follow-up.
|
Psychol Med
|
2004
|
1.53
|
19
|
Anxiety is contagious-symptoms of anxiety in the terminally ill child affect long-term psychological well-being in bereaved parents.
|
Pediatr Blood Cancer
|
2010
|
1.48
|
20
|
Care-related distress: a nationwide study of parents who lost their child to cancer.
|
J Clin Oncol
|
2005
|
1.38
|
21
|
Central nervous system disease in Langerhans cell histiocytosis.
|
J Pediatr
|
2010
|
1.32
|
22
|
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
|
Blood
|
2010
|
1.28
|
23
|
Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis.
|
Br J Haematol
|
2007
|
1.27
|
24
|
Vascular endothelial growth factor prolongs survival in a transgenic mouse model of ALS.
|
Ann Neurol
|
2004
|
1.26
|
25
|
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.
|
Blood
|
2009
|
1.16
|
26
|
The need for worldwide policy and action plans for rare diseases.
|
Acta Paediatr
|
2012
|
1.13
|
27
|
Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.
|
Blood
|
2013
|
1.11
|
28
|
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
|
Br J Haematol
|
2008
|
1.09
|
29
|
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
|
J Med Genet
|
2011
|
1.05
|
30
|
Longitudinal follow-up of patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
|
Haematologica
|
2004
|
1.04
|
31
|
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
|
Pediatr Blood Cancer
|
2010
|
1.01
|
32
|
Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome.
|
Proc Natl Acad Sci U S A
|
2008
|
1.01
|
33
|
Risk factors for early death in children with haemophagocytic lymphohistiocytosis.
|
Acta Paediatr
|
2011
|
0.98
|
34
|
Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia.
|
J Periodontol
|
2006
|
0.97
|
35
|
Symptoms affecting children with malignancies during the last month of life: a nationwide follow-up.
|
Pediatrics
|
2006
|
0.96
|
36
|
The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells.
|
Mol Immunol
|
2010
|
0.95
|
37
|
Fetal hemolytic anemia and intrauterine death caused by anti-M immunization.
|
Transfusion
|
2007
|
0.95
|
38
|
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
|
Blood
|
2011
|
0.95
|
39
|
Incidence of Langerhans cell histiocytosis in children: a population-based study.
|
Pediatr Blood Cancer
|
2008
|
0.94
|
40
|
Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells.
|
Blood
|
2004
|
0.93
|
41
|
VEGF reduces astrogliosis and preserves neuromuscular junctions in ALS transgenic mice.
|
Biochem Biophys Res Commun
|
2007
|
0.93
|
42
|
Randomized study of IVIg and high-dose dexamethasone therapy for children with chronic idiopathic thrombocytopenic purpura.
|
J Pediatr Hematol Oncol
|
2003
|
0.93
|
43
|
Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity.
|
Haematologica
|
2009
|
0.91
|
44
|
Severe bacteria-associated hemophagocytic lymphohistiocytosis in an extremely premature infant.
|
Acta Paediatr
|
2007
|
0.91
|
45
|
Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant.
|
Pediatr Blood Cancer
|
2009
|
0.90
|
46
|
Chemoresistance of human monocyte-derived dendritic cells is regulated by IL-17A.
|
PLoS One
|
2013
|
0.90
|
47
|
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia.
|
Acta Paediatr
|
2007
|
0.90
|
48
|
Reactivations in multisystem Langerhans cell histiocytosis: data of the international LCH registry.
|
J Pediatr
|
2008
|
0.90
|
49
|
Syntaxin 11 marks a distinct intracellular compartment recruited to the immunological synapse of NK cells to colocalize with cytotoxic granules.
|
J Cell Mol Med
|
2012
|
0.89
|
50
|
Langerhans-cell histiocytosis: neoplasia or unbridled inflammation?
|
Trends Immunol
|
2003
|
0.89
|
51
|
Duration and morbidity of chronic immune thrombocytopenic purpura in children: five-year follow-up of a Nordic cohort.
|
Acta Paediatr
|
2012
|
0.89
|
52
|
Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells.
|
Br J Haematol
|
2008
|
0.88
|
53
|
Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia.
|
Acta Paediatr
|
2006
|
0.88
|
54
|
Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
|
Pediatr Blood Cancer
|
2009
|
0.86
|
55
|
Tumor necrosis factor, interleukin 11, and leukemia inhibitory factor produced by Langerhans cells in Langerhans cell histiocytosis.
|
J Pediatr Hematol Oncol
|
2004
|
0.85
|
56
|
Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease.
|
Eur J Pediatr
|
2006
|
0.84
|
57
|
Efficacy and safety of two different rG-CSF preparations in the treatment of patients with severe congenital neutropenia.
|
Br J Haematol
|
2004
|
0.83
|
58
|
Frequency and development of CNS involvement in Chinese children with hemophagocytic lymphohistiocytosis.
|
Pediatr Blood Cancer
|
2010
|
0.83
|
59
|
Fifteen years of treatment with intravenous immunoglobulin in central nervous system Langerhans cell histiocytosis.
|
Acta Paediatr
|
2011
|
0.83
|
60
|
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines.
|
Int J Oncol
|
2006
|
0.83
|
61
|
Biomarkers in the cerebrospinal fluid and neurodegeneration in Langerhans cell histiocytosis.
|
Pediatr Blood Cancer
|
2009
|
0.82
|
62
|
Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations.
|
Haematologica
|
2012
|
0.81
|
63
|
Lack of bone lesions at diagnosis is associated with inferior outcome in multisystem langerhans cell histiocytosis of childhood.
|
Br J Haematol
|
2014
|
0.81
|
64
|
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.
|
Br J Haematol
|
2012
|
0.81
|
65
|
Pulmonary function testing and pulmonary Langerhans cell histiocytosis.
|
Pediatr Blood Cancer
|
2007
|
0.81
|
66
|
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.
|
Br J Haematol
|
2007
|
0.81
|
67
|
Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance.
|
Br J Haematol
|
2005
|
0.81
|
68
|
Elevated serum levels of the decoy receptor osteoprotegerin in children with Langerhans cell histiocytosis.
|
Pediatr Res
|
2006
|
0.81
|
69
|
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.
|
Br J Haematol
|
2013
|
0.80
|
70
|
Treatment of familial hemophagocytic lymphohistiocytosis with third-party mesenchymal stromal cells.
|
Stem Cells Dev
|
2012
|
0.80
|
71
|
Betulinic acid, a natural cytotoxic agent, fails to trigger apoptosis in human Burkitt's lymphoma-derived B-cell lines.
|
Int J Cancer
|
2006
|
0.79
|
72
|
Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment.
|
Pediatr Hematol Oncol
|
2003
|
0.79
|
73
|
Pediatric Crohn's disease from onset to adulthood: granulomas are associated with an early need for immunomodulation.
|
Scand J Gastroenterol
|
2014
|
0.78
|
74
|
Langerhans cell histiocytosis in children born 1982-2005 after in vitro fertilization.
|
Acta Paediatr
|
2012
|
0.78
|
75
|
Immunohistochemical detection of the apoptosis-related proteins FADD, FLICE, and FLIP in Langerhans cell histiocytosis.
|
J Pediatr Hematol Oncol
|
2005
|
0.78
|
76
|
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
|
Hum Genet
|
2002
|
0.78
|
77
|
Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).
|
Prenat Diagn
|
2002
|
0.78
|
78
|
Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
|
Acta Paediatr
|
2013
|
0.77
|
79
|
Bortezomib and IL-12 produce synergetic anti-multiple myeloma effects with reduced toxicity to natural killer cells.
|
Anticancer Drugs
|
2014
|
0.77
|
80
|
Neuropsychological sequelae in patients with neurodegenerative Langerhans cell histiocytosis.
|
Pediatr Blood Cancer
|
2008
|
0.77
|
81
|
Killer cell immunoglobulin-like receptor gene polymorphisms predispose susceptibility to Epstein-Barr virus associated hemophagocytic lymphohistiocytosis in Chinese children.
|
Microbiol Immunol
|
2012
|
0.77
|
82
|
Immunogenetic heterogeneity in single-system and multisystem langerhans cell histiocytosis.
|
Pediatr Res
|
2003
|
0.76
|
83
|
Transition to noncurative end-of-life care in paediatric oncology--a nationwide follow-up in Sweden.
|
Acta Paediatr
|
2013
|
0.76
|
84
|
Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.
|
Br J Haematol
|
2002
|
0.76
|
85
|
Brain 18-FDG PET scan in central nervous system langerhans cell histiocytosis.
|
J Pediatr
|
2002
|
0.75
|
86
|
Does treatment of newly diagnosed idiopathic thrombocytopenic purpura reduce morbidity?
|
Arch Dis Child
|
2007
|
0.75
|
87
|
Targeting BCL2 family in human myeloid dendritic cells: a challenge to cure diseases with chronic inflammations associated with bone loss.
|
Clin Dev Immunol
|
2013
|
0.75
|
88
|
Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis.
|
Br J Haematol
|
2009
|
0.75
|
89
|
Evaluation of parvovirus B19 infection in children with malignant or hematological disorders.
|
Clin Infect Dis
|
2010
|
0.75
|
90
|
Healing hemophagocytosis.
|
Clin Immunol
|
2005
|
0.75
|
91
|
[Langerhans cell histiocytosis: new light over pathogenesis. 75 years since Sture Siwe's classic work on "systemic reticuloendotheliosis"].
|
Lakartidningen
|
2008
|
0.75
|
92
|
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
|
Pediatr Blood Cancer
|
2008
|
0.75
|
93
|
Retraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family.
|
Blood
|
2003
|
0.75
|
94
|
[Enigmatic diseases in children. Still a lot of questions left in spite of great research progress on LCH and HLH].
|
Lakartidningen
|
2005
|
0.75
|
95
|
[Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia].
|
Lakartidningen
|
2006
|
0.75
|
96
|
On the Child's Own Initiative: Parents Communicate with Their Dying Child About Death.
|
Death Stud
|
2014
|
0.75
|