Published in J Clin Endocrinol Metab on November 18, 2008
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet (2010) 1.37
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
The effect of preconception paternal alcohol exposure on epigenetic remodeling of the h19 and rasgrf1 imprinting control regions in mouse offspring. Front Genet (2012) 1.03
Colloquium papers: Transfers and transitions: parent-offspring conflict, genomic imprinting, and the evolution of human life history. Proc Natl Acad Sci U S A (2009) 0.97
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS One (2012) 0.89
Whither the etiopathogenesis (and scoliogeny) of adolescent idiopathic scoliosis? Incorporating presentations on scoliogeny at the 2012 IRSSD and SRS meetings. Scoliosis (2013) 0.88
Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol (2016) 0.86
The molecular and cellular basis of variable craniofacial phenotypes and their genetic rescue in Twisted gastrulation mutant mice. Dev Biol (2011) 0.84
Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7. Epigenetics (2013) 0.84
IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance. BMC Med Genet (2012) 0.82
Long non-coding RNA regulation of reproduction and development. Mol Reprod Dev (2015) 0.82
IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome. Clin Epigenetics (2012) 0.81
Complete biallelic insulation at the H19/Igf2 imprinting control region position results in fetal growth retardation and perinatal lethality. PLoS One (2010) 0.80
No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. PLoS One (2009) 0.75
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
[Rare diseases with clinical relevance-the Silver-Russell syndrome]. Urologe A (2017) 0.75
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
A promoter-level mammalian expression atlas. Nature (2014) 6.25
Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis. Nat Biotechnol (2013) 5.89
Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility. PLoS One (2012) 5.03
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet (2005) 4.80
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet (2007) 4.76
A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 4.64
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 4.05
MMP12, lung function, and COPD in high-risk populations. N Engl J Med (2009) 3.96
Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol (2009) 2.39
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet (2005) 2.32
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet (2006) 2.14
The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet (2005) 2.02
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A (2003) 1.93
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma. Am J Respir Crit Care Med (2005) 1.78
A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res (2009) 1.77
High frequency of tumours in Mulibrey nanism. J Pathol (2009) 1.73
Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis. J Invest Dermatol (2003) 1.68
Timing of infant feeding in relation to childhood asthma and allergic diseases. J Allergy Clin Immunol (2012) 1.62
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat (2002) 1.54
A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity. Horm Res (2006) 1.52
Transcriptome profiling of human pre-implantation development. PLoS One (2009) 1.51
Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem (2002) 1.50
Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem (2004) 1.50
Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. Biol Psychiatry (2012) 1.50
Influence of the COMT genotype on working memory and brain activity changes during development. Biol Psychiatry (2011) 1.50
Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum. Gastroenterology (2002) 1.47
Large-scale zygosity testing using single nucleotide polymorphisms. Twin Res Hum Genet (2007) 1.45
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet (2002) 1.42
Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease. Environ Health Perspect (2008) 1.40
The zebrafish transcriptome during early development. BMC Dev Biol (2011) 1.39
LifeGene--a large prospective population-based study of global relevance. Eur J Epidemiol (2010) 1.38
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet (2007) 1.32
Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains. Am J Physiol Cell Physiol (2002) 1.29
Expression analysis of the NLRP gene family suggests a role in human preimplantation development. PLoS One (2008) 1.25
Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease. Gastroenterology (2007) 1.24
Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis (2007) 1.23
Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons. PLoS One (2011) 1.22
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet (2009) 1.21
Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families. Am J Hum Genet (2002) 1.21
Genome wide association study identifies KCNMA1 contributing to human obesity. BMC Med Genomics (2011) 1.18
Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure. Biol Psychiatry (2012) 1.17
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus. J Med Genet (2007) 1.16
Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases. Hum Mol Genet (2008) 1.14
Research resource: interactome of human embryo implantation: identification of gene expression pathways, regulation, and integrated regulatory networks. Mol Endocrinol (2011) 1.12
Drug repositioning: a machine-learning approach through data integration. J Cheminform (2013) 1.11
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations. Eur J Hum Genet (2012) 1.09
Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes. J Allergy Clin Immunol (2005) 1.08
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol (2013) 1.07
The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia. FASEB J (2008) 1.06
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. BMC Med Genet (2009) 1.06
PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease. Inflamm Bowel Dis (2009) 1.06
Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatr Genet (2009) 1.06
The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects. Diabetes (2005) 1.06
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. Exp Cell Res (2005) 1.05
ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Am J Hum Genet (2006) 1.05
Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum (2005) 1.05
Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene. PLoS One (2012) 1.05
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol (2008) 1.05
Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Hum Mol Genet (2009) 1.04
Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus. Exp Dermatol (2009) 1.03
Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat (2011) 1.03
Transcriptome analysis reveals upregulation of bitter taste receptors in severe asthmatics. Eur Respir J (2012) 1.03
Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma. Cancer Epidemiol Biomarkers Prev (2006) 1.03
Congenital upper limb deficiencies and associated malformations in Finland: a population-based study. J Hand Surg Am (2011) 1.03
A genome-wide association scan on estrogen receptor-negative breast cancer. Breast Cancer Res (2010) 1.02
Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses. Hum Mol Genet (2006) 1.02
Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs. BMC Genet (2008) 1.02
Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity. Pharmacogenet Genomics (2006) 1.01
SLC26A7: a basolateral Cl-/HCO3- exchanger specific to intercalated cells of the outer medullary collecting duct. Am J Physiol Renal Physiol (2003) 1.01
Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells. Am J Physiol Gastrointest Liver Physiol (2003) 1.01
Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. Psychiatr Genet (2008) 1.00
A novel low-penetrance locus for familial glioma at 15q23-q26.3. Cancer Res (2002) 0.99
Assessment of the neuropeptide S system in anxiety disorders. Biol Psychiatry (2010) 0.99
CCHCR1 is up-regulated in skin cancer and associated with EGFR expression. PLoS One (2009) 0.99
Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study. Thromb Res (2008) 0.99
Acute bacterial, nonnecrotizing cellulitis in Finland: microbiological findings. Clin Infect Dis (2008) 0.98
Swedish population substructure revealed by genome-wide single nucleotide polymorphism data. PLoS One (2011) 0.97
The CCHCR1 (HCR) gene is relevant for skin steroidogenesis and downregulated in cultured psoriatic keratinocytes. J Mol Med (Berl) (2007) 0.97
Investigatory and analytical approaches to differential gene expression profiling in mantle cell lymphoma. Br J Haematol (2002) 0.96
SAMstrt: statistical test for differential expression in single-cell transcriptome with spike-in normalization. Bioinformatics (2013) 0.96
Distinct sets of developmentally regulated genes that are expressed by human oocytes and human embryonic stem cells. Fertil Steril (2006) 0.96
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet (2013) 0.95
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics (2002) 0.95
Characterization of GPRA, a novel G protein-coupled receptor related to asthma. Am J Respir Cell Mol Biol (2005) 0.95