Published in Neurology on July 22, 2003
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell (2012) 2.29
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet (2004) 1.72
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet (2004) 1.50
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res (2008) 1.45
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur J Hum Genet (2009) 1.33
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet (2006) 1.14
Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers. Nucleic Acids Res (2008) 1.14
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS One (2009) 1.12
The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy. J Cell Biol (2010) 1.10
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet (2005) 1.03
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol (2012) 1.00
Hybridization analysis of D4Z4 repeat arrays linked to FSHD. Chromosoma (2006) 0.89
Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene. Mol Cell Biol (2014) 0.87
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet (2011) 0.85
CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy. Mol Ther (2015) 0.84
A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA. RNA Biol (2012) 0.82
Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population. Eur J Hum Genet (2010) 0.80
Direct interplay between two candidate genes in FSHD muscular dystrophy. Hum Mol Genet (2014) 0.80
Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association. Pediatr Nephrol (2010) 0.79
FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease. J Med Genet (2010) 0.78
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? Eur J Hum Genet (2009) 0.77
The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis. J Biol Chem (1969) 142.11
Measurement of molecular weights by electrophoresis on SDS-acrylamide gel. Methods Enzymol (1972) 14.68
The DNA sequence of human chromosome 21. Nature (2000) 10.66
Prevention of mother-to-child HIV transmission in resource-poor countries: translating research into policy and practice. JAMA (2000) 10.17
Demethylation of the zygotic paternal genome. Nature (2000) 8.52
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet (1992) 8.20
Human gene mutation database-a biomedical information and research resource. Hum Mutat (2000) 6.87
Simian virus 40 gene A function and maintenance of transformation. J Virol (1975) 6.40
Translation of globin messenger RNA in a heterologous cell-free system. Nature (1971) 6.29
Different intermediate-sized filaments distinguished by immunofluorescence microscopy. Proc Natl Acad Sci U S A (1978) 6.28
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99
Cytoplasmic microtubules in tissue culture cells appear to grow from an organizing structure towards the plasma membrane. Proc Natl Acad Sci U S A (1976) 5.56
Patterns of organization of actin and myosin in normal and transformed cultured cells. Proc Natl Acad Sci U S A (1975) 4.86
An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet (1985) 4.75
Risk factors for human immunodeficiency virus infection in intravenous drug users. N Engl J Med (1989) 4.72
Widespread occurrence of intermediate-sized filaments of the vimentin-type in cultured cells from diverse vertebrates. Exp Cell Res (1979) 4.61
Galectins. Structure and function of a large family of animal lectins. J Biol Chem (1994) 4.29
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21
Antibody to prekeratin. Decoration of tonofilament like arrays in various cells of epithelial character. Exp Cell Res (1978) 4.01
Galectins: a family of animal beta-galactoside-binding lectins. Cell (1994) 3.99
Specific visualization of tubulin-containing structures in tissue culture cells by immunofluorescence. Cytoplasmic microtubules, vinblastine-induced paracrystals, and mitotic figures. Exp Cell Res (1975) 3.95
The successful implementation of pharmaceutical practice guidelines. Analysis of associated outcomes and cost savings. SWiPE Group. Systematic Withdrawal of Perioperative Expenses. Anesthesiology (1997) 3.92
Tumor diagnosis by intermediate filament typing: a novel tool for surgical pathology. Lab Invest (1983) 3.91
The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line. J Cell Biol (1988) 3.86
Trends in perinatal transmission of HIV/AIDS in the United States. JAMA (1999) 3.86
The detertent-resistant cytoskeleton of tissue culture cells includes the nucleus and the microfilament bundles. Exp Cell Res (1977) 3.84
Nuclear foci of mammalian recombination proteins are located at single-stranded DNA regions formed after DNA damage. Proc Natl Acad Sci U S A (1999) 3.68
Genome evolution. Global methylation in eutherian hybrids. Nature (1999) 3.61
Desmin is a specific marker for rhabdomyosarcomas of human and rat origin. Am J Pathol (1985) 3.59
Identification of xanthurenic acid as the putative inducer of malaria development in the mosquito. Nature (1998) 3.56
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
Visualization of a system of filaments 7-10 nm thick in cultured cells of an epithelioid line (Pt K2) by immunofluorescence microscopy. Proc Natl Acad Sci U S A (1977) 3.52
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet (1991) 3.48
Cytoplasmic microtubular images in glutaraldehyde-fixed tissue culture cells by electron microscopy and by immunofluorescence microscopy. Proc Natl Acad Sci U S A (1978) 3.46
Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development (1989) 3.37
HeartCare: an Internet-based information and support system for patient home recovery after coronary artery bypass graft (CABG) surgery. J Adv Nurs (2001) 3.36
Three-dimensional electron microscopical visualization of the cytoskeleton of animal cells: immunoferritin identification of actin- and tubulin-containing structures. Proc Natl Acad Sci U S A (1978) 3.32
A determination of mutagen specificity in bacteria using nonsense mutants of bacteriophage T4. J Mol Biol (1967) 3.26
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet (1998) 3.12
Evaluation of a modified self-report measure of social adjustment. Br J Psychiatry (1982) 3.06
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet (2001) 3.05
The display of microtubules in transformed cells. Cell (1977) 3.04
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene (1999) 3.00
Immunofluorescence and immunocytochemical procedures with affinity purified antibodies: tubulin-containing structures. Methods Cell Biol (1982) 2.98
HeLa cells contain intermediate-sized filaments of the prekeratin type. Exp Cell Res (1979) 2.98
The choice of treatment of single brain metastasis should be based on extracranial tumor activity and age. Int J Radiat Oncol Biol Phys (1994) 2.97
Distribution of actin and tubulin in cells and in glycerinated cell models after treatment with cytochalasin B (CB). Exp Cell Res (1976) 2.96
Cell-to-substratum contacts in living cells: a direct correlation between interference-reflexion and indirect-immunofluorescence microscopy using antibodies against actin and alpha-actinin. J Cell Sci (1979) 2.93
An F-actin- and calmodulin-binding protein from isolated intestinal brush borders has a morphology related to spectrin. Cell (1982) 2.89
DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet (1984) 2.79
Phalloidin-induced actin polymerization in the cytoplasm of cultured cells interferes with cell locomotion and growth. Proc Natl Acad Sci U S A (1977) 2.77
The human gene mutation database. Trends Genet (1997) 2.72
Intermediate filaments. Cold Spring Harb Symp Quant Biol (1982) 2.61
Marriage, monogamy and HIV: a profile of HIV-infected women in south India. Int J STD AIDS (2000) 2.59
Chlamydia trachomatis and reactive arthritis: the missing link. Lancet (1987) 2.59
Unmethylated domains in vertebrate DNA. Nucleic Acids Res (1983) 2.58
Intermediate-sized filaments of the prekeratin type in myoepithelial cells. J Cell Biol (1980) 2.54
Psychiatric morbidity and compulsory admission among UK-born Europeans, Afro-Caribbeans and Asians in central Manchester. Br J Psychiatry (1993) 2.52
Communication between GPs and cooperatives is poor for terminally ill patients. BMJ (1997) 2.41
Individual microtubules viewed by immunofluorescence and electron microscopy in the same PtK2 cell. J Cell Biol (1978) 2.41
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet (1997) 2.37
Human Gene Mutation Database: towards a comprehensive central mutation database. J Med Genet (2008) 2.37
Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet (1986) 2.26
Treatment of single brain metastasis: radiotherapy alone or combined with neurosurgery? Ann Neurol (1993) 2.25
SV40: T antigen, the A function and transformation. Cold Spring Harb Symp Quant Biol (1975) 2.25
Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1990) 2.21
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet (2001) 2.19
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics (1998) 2.19
Monoclonal antibodies specific for glial fibrillary acidic (GFA) protein and for each of the neurofilament triplet polypeptides. Differentiation (1983) 2.17
Interferon therapy for condylomata acuminata. N Engl J Med (1986) 2.16
Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet (1995) 2.11
Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet (1987) 2.09
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet (1990) 2.09
Analysis of Tn7 transposition. Mol Gen Genet (1986) 2.08
Interaction of human rad51 recombination protein with single-stranded DNA binding protein, RPA. Nucleic Acids Res (1998) 2.08
Monoclonal antibodies to desmin, the muscle-specific intermediate filament protein. EMBO J (1983) 2.07
The intermediate-sized filaments in rat kangaroo PtK2 cells. I. Morphology in situ. Cytobiologie (1978) 2.07
Intermediate-sized filaments of human endothelial cells. J Cell Biol (1979) 2.06
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med (1994) 2.03
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Hum Mol Genet (1995) 2.02
Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology (2010) 2.01
Identification and characterization of epithelial cells in mammalian tissues by immunofluorescence microscopy using antibodies to prekeratin. Differentiation (1979) 2.01
Monoclonal antibodies specific for vimentin. Eur J Cell Biol (1984) 1.97
Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing. Hum Immunol (2010) 1.95
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92
First report on chicken genes and chromosomes 2000. Cytogenet Cell Genet (2000) 1.92
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer (2000) 1.90