Published in Science on July 15, 1977
Maintaining genome stability at the replication fork. Nat Rev Mol Cell Biol (2010) 5.88
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture. Am J Hum Genet (1979) 5.18
Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics. Am J Hum Genet (1979) 4.10
FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med (2001) 3.84
Activity of the fragile X in heterozygous carriers. Am J Hum Genet (1982) 2.06
Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res (1991) 2.00
Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu Rev Med (2011) 1.96
Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression. Am J Hum Genet (1980) 1.88
Adult fragile X syndrome. Clinico-neuropathologic findings. Acta Neuropathol (1985) 1.80
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet (1992) 1.73
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet (1979) 1.62
Microsatellite repeat instability and neurological disease. Bioessays (2009) 1.60
The importance of being a fragile site. Am J Hum Genet (1979) 1.57
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet (2012) 1.50
Non-specific X linked mental retardation. J Med Genet (1991) 1.43
X linked mental retardation. J Med Genet (1991) 1.41
Fragile X syndrome--an important cause of mental retardation. J R Soc Med (1990) 1.39
Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites. Am J Hum Genet (1982) 1.38
The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.37
Autism: the point of view from fragile X studies. J Autism Dev Disord (1998) 1.36
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet (1999) 1.33
A YAC contig across the fragile X site defines the region of fragility. Nucleic Acids Res (1991) 1.29
The unstable repeats--three evolving faces of neurological disease. Neuron (2013) 1.26
Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy? Arch Dis Child (1985) 1.24
5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. J Med Genet (1981) 1.24
Fragile X chromosome: clinical and cytogenetic studies on cases from seven families. J Med Genet (1983) 1.20
Fragile X syndrome: an update on developing treatment modalities. ACS Chem Neurosci (2011) 1.18
Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13
Expression of the marker (X) (q28) in lymphoblastoid cell lines. Am J Hum Genet (1982) 1.11
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet (1996) 1.10
Pericentric inversion of chromosome 11 in one of two similar retarded brothers. J Med Genet (1982) 1.08
Additional evidence for fragile X activity in heterozygous carriers. Am J Hum Genet (1983) 1.08
X-linked mental retardation: in pursuit of a gene map. Am J Hum Genet (1993) 1.03
The fragile X: progress toward solving the puzzle. Am J Hum Genet (1990) 0.98
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am J Hum Genet (1995) 0.98
Fragile x syndrome and autism: from disease model to therapeutic targets. J Neurodev Disord (2009) 0.98
The replication fork: understanding the eukaryotic replication machinery and the challenges to genome duplication. Genes (Basel) (2013) 0.97
FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet (1995) 0.97
Microdissection of the fragile X region. Am J Hum Genet (1990) 0.96
Werner's syndrome: proliferation in vitro of clones of cells bearing chromosome translocations. Am J Hum Genet (1984) 0.96
Tumor hypoxia and genetic alterations in sporadic cancers. J Obstet Gynaecol Res (2011) 0.93
The combined effects of FUdR addition and methionine depletion on the X-chromosome fragile site. Am J Hum Genet (1983) 0.93
The RNA-binding protein fragile X-related 1 regulates somite formation in Xenopus laevis. Mol Biol Cell (2005) 0.93
Fruit flies and intellectual disability. Fly (Austin) (2009) 0.92
The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations. J Med Genet (1987) 0.92
Reverse mutation in fragile X syndrome. Am J Hum Genet (1996) 0.91
Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures. Nucleic Acids Res (2000) 0.89
Chromosomal instability in Afrotheria: fragile sites, evolutionary breakpoints and phylogenetic inference from genome sequence assemblies. BMC Evol Biol (2007) 0.89
Lac operator repeats generate a traceable fragile site in mammalian cells. EMBO Rep (2011) 0.89
A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability. PLoS Genet (2013) 0.87
Fragile X syndrome: a public health concern. Am J Public Health (1985) 0.87
Epigenetics in nucleotide repeat expansion disorders. Semin Neurol (2012) 0.85
The fragile X syndrome: the patients and their chromosomes. J Med Genet (1984) 0.83
A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics. Mamm Genome (2014) 0.79
Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome. Am J Hum Genet (1983) 0.79
Fragile X chromosome and X-linked mental retardation. Can Med Assoc J (1982) 0.79
The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndrome. Int J Physiol Pathophysiol Pharmacol (2012) 0.78
X-linked mental retardation. Arch Dis Child (1981) 0.78
The effect of methionine and 5-azacytidine on fragile X expression. Am J Hum Genet (1985) 0.78
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet (1985) 0.78
Increased genetic instability of the common fragile site at 3p14 after integration of exogenous DNA. Am J Hum Genet (1992) 0.77
Amygdala regulation of fear and emotionality in fragile X syndrome. Dev Neurosci (2011) 0.77
Inducing fragile sites to express themselves. Am J Hum Genet (1980) 0.77
Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations. Am J Hum Genet (1983) 0.76
Genetics of neoplasia--impact of ecogenetics on oncogenesis. A review. Am J Pathol (1978) 0.76
The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years. Am J Hum Genet (1982) 0.75
A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures. Am J Hum Genet (1986) 0.75
Chromosomal fragility and human genetic disorders. Indian J Clin Biochem (2000) 0.75
Progress toward therapeutic potential for AFQ056 in Fragile X syndrome. J Exp Pharmacol (2013) 0.75
Survey of adolescents with severe intellectual handicap. Arch Dis Child (1990) 0.75
Autosomal fragile sites and cancer. Am J Hum Genet (1984) 0.75
Fragile X syndrome: a review of clinical and molecular diagnoses. Ital J Pediatr (2017) 0.75
New developments in the fragile X syndrome. BMJ (1992) 0.75
Fragile X-linked mental retardation of macro-orchidism. West J Med (1982) 0.75
Rescue from replication stress during mitosis. Cell Cycle (2017) 0.75
Recently recognized chromosomal defects of clinical importance. Postgrad Med J (1986) 0.75
Selection and use of a method for the culture of blood leucocytes to reveal the fra(x) site. J Clin Pathol (1984) 0.75
Identification and characterization of a new member of the TNF family that induces apoptosis. Immunity (1995) 10.59
Open access echocardiography in management of heart failure in the community. BMJ (1995) 7.83
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science (1991) 5.99
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture. Am J Hum Genet (1979) 5.18
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91
Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics. Am J Hum Genet (1979) 4.10
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet (2001) 3.83
Safety of transesophageal echocardiography. A multicenter survey of 10,419 examinations. Circulation (1991) 3.70
Dynamic mutations: a new class of mutations causing human disease. Cell (1992) 3.63
Value of the electrocardiogram in identifying heart failure due to left ventricular systolic dysfunction. BMJ (1996) 3.59
Brief report: fulminating fat embolism syndrome caused by paradoxical embolism through a patent foramen ovale. N Engl J Med (1993) 3.55
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
Cysteamine, methionine, and penicillamine in the treatment of paracetamol poisoning. Lancet (1976) 3.41
Regional strain and strain rate measurements by cardiac ultrasound: principles, implementation and limitations. Eur J Echocardiogr (2000) 3.36
Incidence and origin of "null" alleles in the (AC)n microsatellite markers. Am J Hum Genet (1993) 3.18
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (1995) 3.15
CD30 antigen, a marker for Hodgkin's lymphoma, is a receptor whose ligand defines an emerging family of cytokines with homology to TNF. Cell (1993) 2.73
Fc alpha/mu receptor mediates endocytosis of IgM-coated microbes. Nat Immunol (2000) 2.66
DNAM-1, a novel adhesion molecule involved in the cytolytic function of T lymphocytes. Immunity (1996) 2.56
Conference report: International Workshop on the fragile X and X-linked mental retardation. Am J Med Genet (1984) 2.49
Unnecessary x ray examinations. BMJ (1989) 2.37
Simple repeat DNA is not replicated simply. Nat Genet (1994) 2.37
X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. Hum Genet (1979) 2.12
Ventricular septal defects. Two dimensional echocardiographic and morphological correlations. Br Heart J (1982) 2.11
Diagnosis of heart tumours by transoesophageal echocardiography: a multicentre study in 154 patients. European Cooperative Study Group. Eur Heart J (1993) 2.10
Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X. Hum Genet (1989) 2.10
Dynamic mutation: possible mechanisms and significance in human disease. Trends Biochem Sci (1997) 2.04
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.01
Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16. Genomics (1992) 2.00
Non-invasive diagnosis of coronary artery disease by quantitative stress echocardiography: optimal diagnostic models using off-line tissue Doppler in the MYDISE study. Eur Heart J (2003) 1.99
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers. Am J Hum Genet (1991) 1.95
Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet (1992) 1.91
Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression. Am J Hum Genet (1980) 1.88
bcl-w, a novel member of the bcl-2 family, promotes cell survival. Oncogene (1996) 1.87
Muc13, a novel human cell surface mucin expressed by epithelial and hemopoietic cells. J Biol Chem (2001) 1.86
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet (1995) 1.86
Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. Proc Natl Acad Sci U S A (1999) 1.86
LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes. Immunity (1997) 1.85
Policy for prevention of Asian rickets in Britain: a preliminary assessment of the Glasgow rickets campaign. Br Med J (Clin Res Ed) (1981) 1.83
Explanation for exclusive maternal origin for congenital form of myotonic dystrophy. Lancet (1993) 1.72
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet (1991) 1.71
Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J Immunol (1999) 1.70
Mapping the short arm of human chromosome 16. Genomics (1989) 1.69
Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology (2003) 1.67
The detection of fat embolism by transoesophageal echocardiography during reamed intramedullary nailing. A study of 24 patients with femoral and tibial fractures. J Bone Joint Surg Br (1993) 1.66
Anatomical basis of cross sectional echocardiography. Br Heart J (1983) 1.63
Down's syndrome in South Australia. Med J Aust (1979) 1.63
The CD39 lymphoid cell activation antigen. Molecular cloning and structural characterization. J Immunol (1994) 1.63
Diagnosis of atrial situs by transesophageal echocardiography. J Am Coll Cardiol (1990) 1.62
Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim. Mamm Genome (2001) 1.62
Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet (1996) 1.61
Molecular and biological characterization of human 4-1BB and its ligand. Eur J Immunol (1994) 1.59
Prevention of rickets in Asian children: assessment of the Glasgow campaign. Br Med J (Clin Res Ed) (1985) 1.58
Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum Genet (1976) 1.56
Transesophageal echocardiographic monitoring of interventional cardiac catheterization in children. J Am Coll Cardiol (1991) 1.56
Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. Oncogene (1998) 1.56
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics (1988) 1.55
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell (1997) 1.55
Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal. Am J Hum Genet (1981) 1.55
Two novel mucin genes down-regulated in colorectal cancer identified by differential display. Cancer Res (1999) 1.52
Molecular characterization of murine and human OX40/OX40 ligand systems: identification of a human OX40 ligand as the HTLV-1-regulated protein gp34. EMBO J (1994) 1.52
Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives. Hum Genet (1979) 1.51
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science (1994) 1.51
At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes Cancer (1994) 1.50
High frame rate myocardial integrated backscatter. Does this change our understanding of this acoustic parameter? Eur J Echocardiogr (2000) 1.49
The fragile X chromosome. Int Rev Cytol (1983) 1.49
Report of the committee on cytogenetic markers. Cytogenet Cell Genet (1989) 1.48
Colour Doppler velocity imaging of the myocardium. Ultrasound Med Biol (1992) 1.48
The value of Doppler color flow mapping in determining pulmonary blood supply in infants with pulmonary atresia with ventricular septal defect. J Am Coll Cardiol (1989) 1.47
Ventilation and acid-base changes in deep coma due to barbiturate or tricyclic antidepressant poisoning. Clin Toxicol (1977) 1.47
Hippocampal neurons are damaged by caffeine-augmented electroshock seizures. Biol Psychiatry (1996) 1.46
Electron microscopic evidence against apoptosis as the mechanism of neuronal death in global ischemia. J Neurosci (1999) 1.45
Assessing diagnosis in heart failure: which features are any use? QJM (1997) 1.45
Transesophageal echocardiography. J Am Soc Echocardiogr (1990) 1.44
Analysis of reproducibility of reference lumen quantitation with intravascular ultrasound in stented coronary arteries. Cathet Cardiovasc Diagn (1997) 1.42
Cloning, chromosomal mapping and characterization of the human metal-regulatory transcription factor MTF-1. Nucleic Acids Res (1994) 1.42
Dinucleotide repeat polymorphisms at the D16S164, D16S168 and D16S186 loci at 16q21-q22.1. Nucleic Acids Res (1991) 1.42
Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Mol Cell Biol (1995) 1.42
HPP1: a transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers. Proc Natl Acad Sci U S A (2001) 1.41
Transoral resection of axial lesions augmented by intraoperative magnetic resonance imaging. Report of three cases. J Neurosurg (2001) 1.40
Comparative roles of intraoperative epicardial and early postoperative transthoracic echocardiography in the assessment of surgical repair of congenital heart defects. J Am Coll Cardiol (1990) 1.40
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet (1987) 1.40
Predictive diagnosis for polycystic kidney disease using DNA markers. Med J Aust (1990) 1.39
Doppler myocardial imaging in the assessment of regional myocardial function in longitudinal direction pre- and post-PTCA. Eur J Echocardiogr (2001) 1.39
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature (1995) 1.38
Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites. Am J Hum Genet (1982) 1.38
Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14. J Biol Chem (2001) 1.38
Incidence and clinicopathological features of meningioma. J Neurosurg (1989) 1.37
Can natural strain and strain rate quantify regional myocardial deformation? A study in healthy subjects. Ultrasound Med Biol (2001) 1.36
Normal regional right ventricular function and its change with age: a Doppler myocardial imaging study. J Am Soc Echocardiogr (2000) 1.36
Report of the Committee on Chromosome Rearrangements in Neoplasia and on Fragile Sites. Cytogenet Cell Genet (1985) 1.36
Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting. Ann Genet (1990) 1.34
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. Hum Mol Genet (1993) 1.33
A novel epithelial-expressed ETS gene, ELF3: human and murine cDNA sequences, murine genomic organization, human mapping to 1q32.2 and expression in tissues and cancer. Oncogene (1997) 1.33
The mouse CD69 gene. Structure, expression, and mapping to the NK gene complex. J Immunol (1994) 1.33
Cloning, expression and chromosomal localization of a novel human dipeptidyl peptidase (DPP) IV homolog, DPP8. Eur J Biochem (2000) 1.32
A new location for the human adenine phosphoribosyltransferase gene (APRT) distal to the haptoglobin (HP) and fra(16)(q23)(FRA16D) loci. Cytogenet Cell Genet (1986) 1.29
Excess thymidine induces folate sensitive fragile sites. Am J Med Genet (1985) 1.29
Feasibility of strain and strain rate imaging for the assessment of regional left atrial deformation: a study in normal subjects. Eur J Echocardiogr (2005) 1.29