Published in Hum Mol Genet on March 01, 2001
The emergence of lncRNAs in cancer biology. Cancer Discov (2011) 6.32
Beckwith-Wiedemann syndrome. Eur J Hum Genet (2010) 2.85
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet (2002) 2.73
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet (2003) 2.21
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet (2006) 1.83
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet (2003) 1.68
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
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2008) 1.59
Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn (2009) 1.38
Controversies and advances in the management of Wilms' tumour. Arch Dis Child (2002) 1.17
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet (2005) 1.12
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. Eur J Hum Genet (2009) 1.01
ncRNAimprint: a comprehensive database of mammalian imprinted noncoding RNAs. RNA (2010) 0.99
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet (2011) 0.95
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet (2008) 0.95
Specific changes in the expression of imprinted genes in prostate cancer--implications for cancer progression and epigenetic regulation. Asian J Androl (2012) 0.95
Molecular characteristics of Human Endogenous Retrovirus type-W in schizophrenia and bipolar disorder. Transl Psychiatry (2012) 0.92
Shaping the Genome with Non-Coding RNAs. Curr Genomics (2011) 0.90
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet (2014) 0.86
Clinical utility gene card for: Beckwith-Wiedemann Syndrome. Eur J Hum Genet (2013) 0.86
Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region. Hum Mol Genet (2014) 0.84
Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn (2010) 0.82
Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome. J Med Genet (2005) 0.81
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients. Genet Mol Biol (2012) 0.80
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. J Med Genet (2007) 0.79
TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. J Clin Invest (2016) 0.78
Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression. Genomics (2011) 0.77
Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association. BMJ Case Rep (2013) 0.75
Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor. Appl Transl Genom (2014) 0.75
Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet A (2005) 0.75
Long Non-coding RNAs in Urologic Malignancies: Functional Roles and Clinical Translation. J Cancer (2016) 0.75
Knockdown of Long Non-Coding RNA KCNQ1OT1 Restrained Glioma Cells' Malignancy by Activating miR-370/CCNE2 Axis. Front Cell Neurosci (2017) 0.75
Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome. Development (2017) 0.75
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. Eur J Hum Genet (2017) 0.75
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet (1996) 7.84
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature (1995) 7.11
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell (1999) 4.87
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res (2000) 3.68
Molecular cloning of a human DNA repair gene. Nature (1984) 3.50
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35
Dynamics of gene expression revealed by comparison of serial analysis of gene expression transcript profiles from yeast grown on two different carbon sources. Mol Biol Cell (1999) 3.30
Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10. Cell (1986) 3.17
The Smith-Lemli-Opitz syndrome. J Med Genet (2000) 3.05
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75
Cardiac conduction defects associate with mutations in SCN5A. Nat Genet (1999) 2.73
Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma. N Engl J Med (1996) 2.66
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet (1998) 2.62
The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem (1998) 2.31
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet (1998) 2.26
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr (1995) 2.19
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet (2001) 1.88
Loss of human genetic markers in man--Chinese hamster somatic cell hybrids. Nat New Biol (1971) 1.88
Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22. Cytogenet Cell Genet (1980) 1.88
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol (1999) 1.84
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet (2005) 1.78
Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet (2001) 1.76
High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered. Genomics (1992) 1.74
Homozygous premature truncation of the HERG protein : the human HERG knockout. Circulation (1999) 1.71
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. J Clin Invest (1988) 1.68
Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart (1999) 1.62
Molecular cloning and biological characterization of the human excision repair gene ERCC-3. Mol Cell Biol (1990) 1.57
Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. Nat Genet (1993) 1.55
Mutational analysis of the human nucleotide excision repair gene ERCC1. Nucleic Acids Res (1996) 1.53
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. J Med Genet (2013) 1.51
Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthalmol (1999) 1.47
[Genetic identification of patients and families with a long-QT syndrome: large regional differences in the result of 10 years]. Ned Tijdschr Geneeskd (2007) 1.46
Progress toward understanding vascular malformations. Plast Reconstr Surg (2001) 1.46
Isolated macrodactyly or extremely localized Proteus syndrome? Clin Dysmorphol (1994) 1.46
Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. Hum Mol Genet (1995) 1.45
De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J Med Genet (1997) 1.45
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci U S A (1994) 1.43
The cloned human DNA excision repair gene ERCC-1 fails to correct xeroderma pigmentosum complementation groups A through I. Mutat Res (1989) 1.42
Regional assignment of the gene locus for steroid sulfatase. Hum Genet (1980) 1.40
Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts. Ultrasound Obstet Gynecol (2014) 1.39
Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. Am J Med Genet (1998) 1.39
Myocardialization of the cardiac outflow tract. Dev Biol (1999) 1.37
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet (2000) 1.36
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun (1990) 1.36
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet (1996) 1.35
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res (1999) 1.34
Evolution and mutagenesis of the mammalian excision repair gene ERCC-1. Nucleic Acids Res (1988) 1.34
Differences between rodent and human cell lines in the amount of integrated DNA after transfection. Exp Cell Res (1987) 1.34
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. Clin Dysmorphol (1997) 1.33
Human antigen and enzyme markers in man-Chinese hamster somatic cell hybrids: evidence for synteny between the HL-A, PGM3, ME1, and IPO-B loci. Proc Natl Acad Sci U S A (1974) 1.32
Molecular cloning of the human DNA excision repair gene ERCC-6. Mol Cell Biol (1990) 1.32
Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization. Exp Cell Res (1974) 1.32
Chromosomal assignment and regional localization of CS, ENO2, GAPDH, LDHB, PEPB, and TPI in man-rodent cell hybrids. Cytogenet Cell Genet (1978) 1.31
Genomic characterization of the human DNA excision repair gene ERCC-1. Nucleic Acids Res (1987) 1.31
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol (2000) 1.27
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet (2000) 1.26
Localization of genes on human chromosomes by studies of human-Chinese hamster somatic cell hybrids. Assignment of PGM3 to chromosome C6 and regional mapping of the PGD, PGM1 and pep-C genes on chromosome A1. Humangenetik (1973) 1.24
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child (2001) 1.23
Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet (1983) 1.22
Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO: a third repair gene on human chromosome 19. Genomics (1989) 1.22
Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci U S A (1995) 1.19
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet (1981) 1.18
Genetic heterogeneity in tuberous sclerosis. Genomics (1990) 1.18
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet (1999) 1.17
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. Hum Mutat (2000) 1.17
Clinical profile of Angelman syndrome at different ages. Am J Med Genet (1995) 1.16
Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A (2008) 1.15
Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology (2001) 1.15
RNA content differs in slow and fast muscle fibers: implications for interpretation of changes in muscle gene expression. J Histochem Cytochem (1999) 1.14
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet (2003) 1.13
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet (1996) 1.13
Deletion mapping in neuroblastoma cell lines suggests two distinct tumor suppressor genes in the 1p35-36 region, only one of which is associated with N-myc amplification. Oncogene (1995) 1.13
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet (1998) 1.13
X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids. Am J Hum Genet (1971) 1.13
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet (1993) 1.12
A procedure for culturing rat neocortex explants in a serum-free nutrient medium. J Neurosci Methods (1988) 1.11
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). Am J Med Genet (2000) 1.11
USAGE: a web-based approach towards the analysis of SAGE data. Serial Analysis of Gene Expression. Bioinformatics (2000) 1.11
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. Am J Hum Genet (2000) 1.10
Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. Heart (1998) 1.10
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet (2006) 1.10
The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22. Hum Genet (1985) 1.10
Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders. Biochem Biophys Res Commun (1988) 1.08
Cytoarchitecture in cultured rat neocortex explants. Int J Dev Neurosci (1988) 1.07
Phenotypic heterogeneity within the first complementation group of UV-sensitive mutants of Chinese hamster cell lines. Mutat Res (1988) 1.07
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. Am J Med Genet (1998) 1.07
Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation. Heart (1998) 1.07
Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet (1999) 1.06
Comparative genomic hybridization analysis of Wilms tumors. Cytogenet Cell Genet (1997) 1.05
1p36: every subband a suppressor? Eur J Cancer (1995) 1.05
The IGSF1 deficiency syndrome: characteristics of male and female patients. J Clin Endocrinol Metab (2013) 1.05
Three-dimensional measurement and visualization of morphogenesis applied to cardiac embryology. J Microsc (2007) 1.04
Maintenance of vascular endothelial cell-specific properties after immortalization with an amphotrophic replication-deficient retrovirus containing human papilloma virus 16 E6/E7 DNA. Exp Cell Res (1995) 1.03