Published in Orphanet J Rare Dis on December 30, 2011
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Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis. Haematologica (2013) 0.89
Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B. Mol Cell Biol (2014) 0.88
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. Am J Hum Genet (2015) 0.85
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. Blood Cells Mol Dis (2013) 0.80
Dynamics of the COPII coat with GTP and stable analogues. Nat Cell Biol (2001) 2.44
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Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol (2010) 1.60
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The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Blood (1996) 1.20
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica (2009) 1.20
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The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica (2010) 1.06
CDAII presenting as hydrops foetalis: molecular characterization of two cases. Blood Cells Mol Dis (2010) 0.98
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E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. Acta Haematol (2011) 0.87
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. Am J Hematol (2011) 0.86
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science (2002) 9.90
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet (2003) 6.82
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood (2005) 6.07
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Genomewide association studies of stroke. N Engl J Med (2009) 5.29
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet (2011) 3.93
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes (2008) 3.54
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet (2008) 3.25
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet (2009) 3.18
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet (2005) 3.09
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med (2009) 2.80
Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight. Lancet (2002) 2.78
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet (2003) 2.73
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet (2008) 2.66
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet (2008) 2.45
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
On T2* magnetic resonance and cardiac iron. Circulation (2011) 2.33
Thalassemia intermedia: revisited. Blood Cells Mol Dis (2006) 2.31
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics (2003) 2.29
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA (2006) 2.15
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet (2009) 2.12
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics (2006) 2.10
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet (2008) 2.09
Purging iron from the heart. Br J Haematol (2004) 2.07
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet (2009) 2.03
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A (2011) 2.01
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol (2012) 1.98
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet (2010) 1.94
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res (2011) 1.93
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
A genome-wide association study of optic disc parameters. PLoS Genet (2010) 1.87
Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes. J Hypertens (2007) 1.85
LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. Diabetes (2007) 1.83
Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet (2004) 1.80
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genet (2012) 1.79
Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet (2012) 1.79
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. Atherosclerosis (2009) 1.78
Genetic determinants of circulating sphingolipid concentrations in European populations. PLoS Genet (2009) 1.77
Shared constitutional risks for maternal vascular-related pregnancy complications and future cardiovascular disease. Hypertension (2008) 1.77
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet (2002) 1.76
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect. Eur J Hum Genet (2013) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome. Proc Natl Acad Sci U S A (2005) 1.70
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
Predicting human height by Victorian and genomic methods. Eur J Hum Genet (2009) 1.69
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet (2012) 1.68
Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet (2010) 1.67
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Microsatellite repeat instability and neurological disease. Bioessays (2009) 1.60
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. Am J Hematol (2010) 1.60
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
Rituximab for the treatment of refractory autoimmune hemolytic anemia in children. Blood (2003) 1.58
Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res (2012) 1.58
Common genetic variants associated with open-angle glaucoma. Hum Mol Genet (2011) 1.58
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet (2006) 1.56
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet (2007) 1.55
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study. Blood (2009) 1.50
Migraine is not associated with enhanced atherosclerosis. Cephalalgia (2012) 1.49
Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int (2009) 1.48
Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse. Hippocampus (2002) 1.48
Iron overload in non-transfusion-dependent thalassemia: a clinical perspective. Blood Rev (2012) 1.48
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. Parkinsonism Relat Disord (2006) 1.47
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome. J Neurosci (2005) 1.47