Published in J Med Genet on May 01, 2005
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet (2006) 1.60
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
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet (2005) 1.12
Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis (2010) 1.02
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. Hum Genet (2006) 0.99
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight. PLoS One (2014) 0.93
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. J Hum Genet (2014) 0.82
IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance. BMC Med Genet (2012) 0.82
Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome. PLoS Genet (2016) 0.77
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects. Clin Epigenetics (2017) 0.75
Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes. Mol Syndromol (2015) 0.75
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet (1997) 4.95
Translating biomolecular recognition into nanomechanics. Science (2000) 4.43
Incidence of diabetes mellitus and impaired glucose tolerance in children and adolescents receiving growth-hormone treatment. Lancet (2000) 4.34
Lateralization of phonetic and pitch discrimination in speech processing. Science (1992) 3.43
Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med (1997) 3.19
Neural mechanisms underlying melodic perception and memory for pitch. J Neurosci (1994) 2.86
Multiple representations of pain in human cerebral cortex. Science (1991) 2.74
Functional activation of the human frontal cortex during the performance of verbal working memory tasks. Proc Natl Acad Sci U S A (1993) 2.63
Dissociation of human mid-dorsolateral from posterior dorsolateral frontal cortex in memory processing. Proc Natl Acad Sci U S A (1993) 2.40
Anatomical mapping of functional activation in stereotactic coordinate space. Neuroimage (1992) 2.37
Role of the human anterior cingulate cortex in the control of oculomotor, manual, and speech responses: a positron emission tomography study. J Neurophysiol (1993) 2.37
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet (1994) 2.30
Distributed processing of pain and vibration by the human brain. J Neurosci (1994) 2.08
Does Paramecium primaurelia use a different genetic code in its macronucleus? Nature (1985) 2.04
Sensitization for death receptor- or drug-induced apoptosis by re-expression of caspase-8 through demethylation or gene transfer. Oncogene (2001) 1.94
Epigenetic self-regulation of developmental excision of an internal eliminated sequence on Paramecium tetraurelia. Genes Dev (1995) 1.91
Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med (1997) 1.89
Recombinant maxi-K channels on transistor, a prototype of iono-electronic interfacing. Nat Biotechnol (2001) 1.86
Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab (2001) 1.84
Functional localization and lateralization of human olfactory cortex. Nature (1992) 1.79
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet (2000) 1.78
X-ray crystal structure of the complex of human leukocyte elastase (PMN elastase) and the third domain of the turkey ovomucoid inhibitor. EMBO J (1986) 1.76
Early childhood cirrhoses (ECC) in Germany between 1982 and 1994 with special consideration of copper etiology. Eur J Med Res (1999) 1.75
Human leukocyte and porcine pancreatic elastase: X-ray crystal structures, mechanism, substrate specificity, and mechanism-based inhibitors. Biochemistry (1989) 1.68
Organization and evolution of D region class I genes in the mouse major histocompatibility complex. J Exp Med (1986) 1.68
Homology-dependent maternal inhibition of developmental excision of internal eliminated sequences in Paramecium tetraurelia. Mol Cell Biol (1998) 1.67
PET studies of phonetic processing of speech: review, replication, and reanalysis. Cereb Cortex (1996) 1.67
Nucleotide sequence of the Paramecium primaurelia G surface protein. A huge protein with a highly periodic structure. J Mol Biol (1986) 1.65
Pelvic ultrasonography: early differentiation between isolated premature thelarche and central precocious puberty. Eur J Pediatr (1995) 1.61
Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr (1995) 1.59
Functional neuroanatomy of CCK4-induced anxiety in normal healthy volunteers. Am J Psychiatry (1995) 1.59
Cortical bone density is normal in prepubertal children with growth hormone (GH) deficiency, but initially decreases during GH replacement due to early bone remodeling. J Clin Endocrinol Metab (2003) 1.57
Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet (2008) 1.57
Integrin-mediated action of insulin-like growth factor binding protein-2 in tumor cells. J Mol Endocrinol (2004) 1.55
The neural substrates underlying word generation: a bilingual functional-imaging study. Proc Natl Acad Sci U S A (1995) 1.55
Hearing in the Mind's Ear: A PET Investigation of Musical Imagery and Perception. J Cogn Neurosci (1996) 1.53
Turner syndrome: spontaneous growth in 150 cases and review of the literature. Eur J Pediatr (1983) 1.48
Transition from stick-slip to continuous sliding in atomic friction: entering a new regime of ultralow friction. Phys Rev Lett (2004) 1.46
Incidence of IDDM in German children aged 0-14 years. A 6-year population-based study (1987-1993) Diabetes Care (1997) 1.44
N5-carboxyaminoimidazole ribonucleotide: evidence for a new intermediate and two new enzymatic activities in the de novo purine biosynthetic pathway of Escherichia coli. Biochemistry (1994) 1.43
Influence of nitrous oxide anesthesia on venous gas embolism with carbon dioxide and helium during pneumoperitoneum. Surg Endosc (2000) 1.42
Molecular basis of surface antigen variation in paramecia. Annu Rev Microbiol (1989) 1.42
Spontaneous growth and bone age development in a patient with 17alpha-hydroxylase deficiency: evidence of the role of sexual steroids in prepubertal bone maturation. J Pediatr (1999) 1.39
Chromosomal findings in fetuses with prenatally diagnosed cysts of the choroid plexus. Hum Genet (1992) 1.39
Analysis of zopiclone (Imovane) in postmortem specimens by GC-MS and HPLC with diode-array detection. J Anal Toxicol (1996) 1.38
A specific radioimmunoassay for the growth hormone (GH)-dependent somatomedin-binding protein: its use for diagnosis of GH deficiency. J Clin Endocrinol Metab (1990) 1.35
Hepatocellular expression of a dominant-negative mutant TGF-beta type II receptor accelerates chemically induced hepatocarcinogenesis. Oncogene (2001) 1.33
Cell type specific involvement of death receptor and mitochondrial pathways in drug-induced apoptosis. Oncogene (2001) 1.32
Phylogenetic resolution of complex mutational features at Y-STR DYS390 in aboriginal Australians and Papuans. Mol Biol Evol (1998) 1.32
alpha7 receptor-selective agonists and modes of alpha7 receptor activation. Eur J Pharmacol (2000) 1.31
Metabolic inhibitors sensitize for CD95 (APO-1/Fas)-induced apoptosis by down-regulating Fas-associated death domain-like interleukin 1-converting enzyme inhibitory protein expression. Cancer Res (2000) 1.31
Effects of a CACNA1C genotype on attention networks in healthy individuals. Psychol Med (2010) 1.27
Timing of developmentally programmed excision and circularization of Paramecium internal eliminated sequences. Mol Cell Biol (2000) 1.26
Herpes simplex virus thymidine kinase/ganciclovir-induced apoptosis involves ligand-independent death receptor aggregation and activation of caspases. Proc Natl Acad Sci U S A (1999) 1.25
Serum levels of insulin-like growth factor I (IGF-I) and IGF binding protein 3 reflect spontaneous growth hormone secretion. J Clin Endocrinol Metab (1993) 1.24
Insulin-like growth factor binding protein-2 binding to extracellular matrix plays a critical role in neuroblastoma cell proliferation, migration, and invasion. Endocrinology (2005) 1.22
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. Eur J Pediatr (1993) 1.22
Randomised, double-blind, placebo-controlled trial of human recombinant growth hormone in patients with chronic heart failure due to dilated cardiomyopathy. Lancet (1998) 1.22
Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. Hum Genet (1993) 1.21
Regional cerebral blood flow changes in cortex and basal ganglia during voluntary movements in normal human volunteers. J Neurophysiol (1982) 1.21
Reference intervals from birth to adulthood for serum thyroxine (T4), triiodothyronine (T3), free T3, free T4, thyroxine binding globulin (TBG) and thyrotropin (TSH). Clin Chem Lab Med (2001) 1.20
Expression of a plant-derived peptide harboring water-cleaning and antimicrobial activities. Biotechnol Bioeng (2003) 1.20
Oxygen consumption of the living human brain measured after a single inhalation of positron emitting oxygen. J Cereb Blood Flow Metab (1992) 1.19
Determination of effective tip geometries in Kelvin probe force microscopy on thin insulating films on metals. Nanotechnology (2009) 1.19
Left putaminal activation when speaking a second language: evidence from PET. Neuroreport (1994) 1.18
Longitudinal gonadal function after bone marrow transplantation for acute lymphoblastic leukemia during childhood. Pediatr Transplant (1999) 1.18
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet (1997) 1.18
Different types of structural variation in STRs: HumFES/FPS, HumVWA and HumD21S11. Int J Legal Med (1994) 1.17
The ratio between serum levels of insulin-like growth factor (IGF)-I and the IGF binding proteins (IGFBP-1, 2 and 3) decreases with age in healthy adults and is increased in acromegalic patients. Clin Endocrinol (Oxf) (1994) 1.17
Abrasive wear on the atomic scale. Phys Rev Lett (2002) 1.16
Prevalence of intestinal parasites in the human population of León, Nicaragua. Acta Trop (1997) 1.16
The internal burden of lead among children in a smelter town--a small area analysis. Environ Res (1997) 1.15
Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell (1999) 1.15
Energy expenditure, energy intake and prevalence of obesity after therapy for acute lymphoblastic leukemia during childhood. Horm Res (2000) 1.15
Continuous rise in incidence of childhood Type 1 diabetes in Germany. Diabet Med (2008) 1.14
In vivo measurement of [18F]fluorodeoxyglucose rate constants in rat brain by external coincidence counting. Neuroscience (1987) 1.13
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet (2005) 1.12
Cerebral [15O]water clearance in humans determined by PET: I. Theory and normal values. J Cereb Blood Flow Metab (1996) 1.12
Localization of cerebral activity during simple singing. Neuroreport (1999) 1.11
Gene expression under chronic heat stress in populations of the mustard hill coral (Porites astreoides) from different thermal environments. Mol Ecol (2013) 1.11
Interaction potential and hopping dynamics governing sliding friction. Phys Rev Lett (2003) 1.10
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin Genet (2010) 1.10
Frequency-dependent changes in cerebral metabolic rate of oxygen during activation of human visual cortex. J Cereb Blood Flow Metab (1999) 1.09
Acquired growth hormone resistance in patients with chronic heart failure: implications for therapy with growth hormone. J Am Coll Cardiol (2001) 1.09
Insulin-like growth factor I (IGF-I)-binding protein complex is a better mitogen than free IGF-I. Endocrinology (1989) 1.08
The analytical relations between particles and probe trajectories in atomic force microscope nanomanipulation. Nanotechnology (2009) 1.07
Visual field area on the Goldmann hemispheric perimeter surface. Correction of cartographic errors inherent in perimetry. Curr Eye Res (1981) 1.06
Macronuclear structure of the G surface antigen gene of Paramecium primaurelia and direct expression of its repeated epitopes in Escherichia coli. Mol Cell Biol (1985) 1.06