Human chromosome fragility.

Signatures of mutation and selection in the cancer genome. Nature (2010) 9.75

Human RecQ helicases in DNA repair, recombination, and replication. Annu Rev Biochem (2014) 1.68

A survey of intragenic breakpoints in glioblastoma identifies a distinct subset associated with poor survival. Genes Dev (2013) 1.55

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility. Nat Struct Mol Biol (2009) 1.47

A genome-wide analysis of common fragile sites: what features determine chromosomal instability in the human genome? Genome Res (2012) 1.37

DNA synthesis by Pol η promotes fragile site stability by preventing under-replicated DNA in mitosis. J Cell Biol (2013) 1.30

Roles of the Werner syndrome RecQ helicase in DNA replication. DNA Repair (Amst) (2008) 1.20

Genome-wide catalogue of chromosomal aberrations in barrett's esophagus and esophageal adenocarcinoma: a high-density single nucleotide polymorphism array analysis. Cancer Prev Res (Phila) (2010) 1.12

Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics (2008) 1.12

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines. Am J Hum Genet (2010) 1.10

Checkpoint responses to unusual structures formed by DNA repeats. Mol Carcinog (2009) 1.07

DNA structure and the Werner protein modulate human DNA polymerase delta-dependent replication dynamics within the common fragile site FRA16D. Nucleic Acids Res (2009) 1.02

Replication dynamics at common fragile site FRA6E. Chromosoma (2010) 1.01

TMZ-BioShuttle--a reformulated temozolomide. Int J Med Sci (2008) 0.99

Common Chromosomal Fragile Site Gene WWOX in Metabolic Disorders and Tumors. Int J Biol Sci (2014) 0.95

Mild folate deficiency induces genetic and epigenetic instability and phenotype changes in prostate cancer cells. BMC Biol (2010) 0.95

Inhibition of DNA synthesis facilitates expansion of low-complexity repeats: is strand slippage stimulated by transient local depletion of specific dNTPs? Bioessays (2013) 0.94

Centromere fission, not telomere erosion, triggers chromosomal instability in human carcinomas. Carcinogenesis (2011) 0.93

Variability in the incidence of miRNAs and genes in fragile sites and the role of repeats and CpG islands in the distribution of genetic material. PLoS One (2010) 0.93

A distinct first replication cycle of DNA introduced in mammalian cells. Nucleic Acids Res (2010) 0.93

Common fragile site tumor suppressor genes and corresponding mouse models of cancer. J Biomed Biotechnol (2010) 0.93

High-resolution flow cytometry: a suitable tool for monitoring aneuploid prostate cancer cells after TMZ and TMZ-BioShuttle treatment. Int J Med Sci (2009) 0.92

Mechanism of replicative DNA polymerase delta pausing and a potential role for DNA polymerase kappa in common fragile site replication. J Mol Biol (2012) 0.88

Cerebral folate deficiency. J Inherit Metab Dis (2010) 0.87

Role of DNA secondary structures in fragile site breakage along human chromosome 10. Hum Mol Genet (2013) 0.85

Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22. Exp Anim (2013) 0.84

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. Cancer Genet (2014) 0.83

DNA tandem repeat instability in the Escherichia coli chromosome is stimulated by mismatch repair at an adjacent CAG·CTG trinucleotide repeat. Proc Natl Acad Sci U S A (2010) 0.83

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet (2014) 0.82

Cloning and sequencing of the breakpoint regions of inversion 5g fixed in Drosophila buzzatii. Chromosoma (2009) 0.80

Genome instability at common fragile sites: searching for the cause of their instability. Biomed Res Int (2013) 0.80

A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics. Mamm Genome (2014) 0.79

Genotoxicity assessment of two common curing weeds: Hyptis suaveolens (L.) Poir. and Leucas indica (L.) R. Br. Cytotechnology (2015) 0.79

Genomic instability in the PARK2 locus is associated with Parkinson's disease. J Appl Genet (2015) 0.79

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report. Mol Cytogenet (2012) 0.79

Chromosomal bands affected by acute oil exposure and DNA repair errors. PLoS One (2013) 0.78

Roles of the WWOX in pathogenesis and endocrine therapy of breast cancer. Exp Biol Med (Maywood) (2014) 0.77

A Whole Genome Screen for Minisatellite Stability Genes in Stationary-Phase Yeast Cells. G3 (Bethesda) (2013) 0.77

Chromosomal copy number alterations and HPV integration in cervical precancer and invasive cancer. Carcinogenesis (2015) 0.76

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. Mutat Res (2015) 0.76

Meta-Analysis of DNA Tumor-Viral Integration Site Selection Indicates a Role for Repeats, Gene Expression and Epigenetics. Cancers (Basel) (2015) 0.75

Integration of HIV in the Human Genome: Which Sites Are Preferential? A Genetic and Statistical Assessment. Int J Genomics (2016) 0.75

Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma. Transl Neurosci (2015) 0.75

Tumor Suppressor Genes within Common Fragile Sites Are Active Players in the DNA Damage Response. PLoS Genet (2016) 0.75

First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease. Mol Cytogenet (2016) 0.75

Germline large genomic alterations on 7q in patients with multiple primary cancers. Sci Rep (2017) 0.75

Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization. Mol Cytogenet (2014) 0.75

Genotoxicity reduction in bagasse waste of sugar industry by earthworm technology. Springerplus (2016) 0.75

One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1. Genomics (2014) 0.75

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1. Eur J Hum Genet (2016) 0.75

Maintaining the unmethylated state. Clin Epigenetics (2013) 0.75

HPV16 integration probably contributes to cervical oncogenesis through interrupting tumor suppressor genes and inducing chromosome instability. J Exp Clin Cancer Res (2016) 0.75

The "enemies within": regions of the genome that are inherently difficult to replicate. F1000Res (2017) 0.75

Allelic imbalance and abnormal expression of FHIT in endemic nasopharyngeal carcinoma: association with clinicopathological features. Eur Arch Otorhinolaryngol (2010) 0.75

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56

GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70

Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56

The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. Eur J Pediatr (1981) 2.50

Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) Clin Genet (1990) 2.50

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet (1997) 2.20

The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16

PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet (2001) 2.14

Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet (1991) 2.13

MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97

Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24). Hum Genet (1977) 1.93

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88

Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84

A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet (1979) 1.79

New lethal acrofacial dysostosis syndrome. Am J Med Genet (1991) 1.70

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68

Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum (1982) 1.68

Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet (1992) 1.65

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet (1998) 1.62

Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Am J Med Genet (1990) 1.61

Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet (1996) 1.59

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57

Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56

The XYY syndrome: a follow-up study on 38 boys. Genet Couns (2003) 1.55

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet (2004) 1.55

Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet (1996) 1.54

Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod (2004) 1.53

Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51

Paracentric Inversion in man: personal experience and review of the literature. Hum Genet (1980) 1.50

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet (2000) 1.49

Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. Am J Med Genet (1987) 1.49

Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin Genet (1990) 1.47

Selective advantage of fra (X) heterozygotes. Hum Genet (1990) 1.47

Cowden syndrome. J Med Genet (1995) 1.45

Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45

McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Eur J Pediatr (1992) 1.44

Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. Genet Couns (1998) 1.43

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet (1994) 1.43

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41

Symbrachydactyly involving hands and feet. Genet Couns (1998) 1.40

Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns (1992) 1.40

Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome. Clin Genet (1985) 1.40

VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. Genet Couns (1993) 1.40

The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers. Clin Genet (1990) 1.40

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet (2005) 1.39

Early development (5 to 48 months) in Williams syndrome. A study of 14 children. Genet Couns (1999) 1.39

The Coffin syndrome. Hum Genet (1977) 1.38

On the familial occurrence of congenital bilateral absence of vas deferens. Clin Genet (1989) 1.38

Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet (1987) 1.37

The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns (1999) 1.36

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet (2000) 1.36

Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet (1978) 1.34

Anomalous cerebral venous drainage in Aarskog syndrome. Clin Genet (1984) 1.34

The Brachmann-de Lange syndrome in two siblings of normal parents. Clin Genet (1987) 1.32

Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+. Humangenetik (1973) 1.30

Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity. Clin Genet (1987) 1.30

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet A (2003) 1.30

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet (1992) 1.28

X-linked neuropathy: gene localization with DNA probes. Ann Neurol (1986) 1.27

The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet (1985) 1.27

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet (2002) 1.26

Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome. J Genet Hum (1980) 1.25

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet (1997) 1.25

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse. Hum Genet (2003) 1.23

X-linked recessively inherited non-specific mental retardation. Report of a large family. Ann Genet (1977) 1.23

Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13). Hum Genet (1979) 1.22

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet (2000) 1.21

Chromosome 22q11 deletion presenting as the Potter sequence. J Med Genet (1997) 1.21

Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Child Neuropsychol (1999) 1.20

Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23. Hum Genet (1983) 1.20

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet (2007) 1.20

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics (1999) 1.19

MASA syndrome: new clinical features and linkage analysis using DNA probes. J Med Genet (1990) 1.19

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet (2000) 1.19

Ring chromosome 15 syndrome. Hum Genet (1979) 1.18

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet (2005) 1.18

Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet (1995) 1.17

X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. J Med Genet (1991) 1.16

Interstitial deletion of the long arm of chromosome 15. Ann Genet (1982) 1.16

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet (2004) 1.16

Clinical profile of Angelman syndrome at different ages. Am J Med Genet (1995) 1.16

Pathogenesis of the lethal multiple pterygium syndrome. Am J Med Genet (1990) 1.15

The female and the fragile X. A study of 144 obligate female carriers. Am J Med Genet (1986) 1.15

The Coffin-Siris syndrome: report of a family and further delineation. Clin Genet (1984) 1.15

Hyperacusis in Williams syndrome: a sample survey study. Genet Couns (1997) 1.14

Further evidence for the location of the BPES gene at 3q2. J Med Genet (1991) 1.13

Transmission of fragile (X)(q27) from normal male(s). Hum Genet (1982) 1.13

9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors? Hum Genet (1985) 1.12

Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. Genomics (1998) 1.12