Published in Ann Hum Genet on July 01, 1976
rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest. EMBO J (1997) 4.31
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. Am J Hum Genet (1977) 1.67
Transient ATM kinase inhibition disrupts DNA damage-induced sister chromatid exchange. Sci Signal (2010) 1.25
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. Mol Syndromol (2015) 1.13
Sister chromatid exchange analysis. Am J Hum Genet (1980) 1.02
Inhibition of ATM kinase activity does not phenocopy ATM protein disruption: implications for the clinical utility of ATM kinase inhibitors. Cell Cycle (2010) 0.98
The relative efficiency of homology-directed repair has distinct effects on proper anaphase chromosome separation. Nucleic Acids Res (2011) 0.97
Sister chromatid exchange frequencies in Progeria and Werner syndrome patients. Am J Hum Genet (1981) 0.96
Recombination phenotypes of the NCI-60 collection of human cancer cells. BMC Mol Biol (2011) 0.87
Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA. PLoS Genet (2015) 0.86
Regulation of DNA pairing in homologous recombination. Cold Spring Harb Perspect Biol (2014) 0.86
Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases. Ageing Res Rev (2016) 0.84
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. Am J Hum Genet (1980) 0.82
No increased chromosome breakage in three Bloom's syndrome heterozygotes. J Med Genet (1979) 0.79
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. Am J Hum Genet (1981) 0.75
Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell (1984) 6.78
A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature (1982) 5.95
Localization of the c-ab1 oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature (1984) 4.30
Prognostic value of minimal residual disease in acute lymphoblastic leukaemia in childhood. Lancet (1998) 3.91
Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature (1984) 3.24
RAG mutations in human B cell-negative SCID. Science (1996) 3.03
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child (1970) 2.87
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum Genet (1989) 2.80
Regional mapping of the human immunoglobulin lambda light chain to the Philadelphia chromosome in chronic myeloid leukaemia. Leuk Res (1984) 2.44
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med (1967) 2.36
Congenital malformations in autosomal trisomy syndromes. Am J Dis Child (1966) 2.03
A novel putative tyrosine kinase receptor with oncogenic potential. Oncogene (1991) 1.81
Optimization of PCR-based minimal residual disease diagnostics for childhood acute lymphoblastic leukemia in a multi-center setting. Leukemia (2007) 1.79
High frequency of Ki-ras codon 12 mutations in pancreatic adenocarcinomas. Int J Cancer (1989) 1.79
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics (1966) 1.79
Prethymic phenotype and genotype of pre-T (CD7+/ER-)-cell leukemia and its clinical significance within adult acute lymphoblastic leukemia. Blood (1989) 1.74
Treatment of Adult ALL according to protocols of the German Multicenter Study Group for Adult ALL (GMALL). Hematol Oncol Clin North Am (2000) 1.69
Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet (1971) 1.67
Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. Humangenetik (1966) 1.64
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. Am J Med Genet (1991) 1.59
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet (1994) 1.49
Isochromosome 17q in Ph1-negative leukemia: a clinical, cytogenetic, and molecular study. Blood (1990) 1.46
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. Am J Med Genet (1985) 1.44
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet (1997) 1.38
Further delineation of the Nijmegen breakage syndrome. Am J Med Genet (1989) 1.35
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet (1996) 1.34
Intracellular signaling of the Ufo/Axl receptor tyrosine kinase is mediated mainly by a multi-substrate docking-site. Oncogene (1997) 1.34
TEL/AML-1 dimerizes and is associated with a favorable outcome in childhood acute lymphoblastic leukemia. Blood (1996) 1.33
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma. Hum Genet (1994) 1.33
X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia. Nat New Biol (1973) 1.30
Mutation of the p53 gene in neuroblastoma and its relationship with N-myc amplification. Cancer Res (1993) 1.29
Polymerase chain reaction for detection of residual leukaemia. Lancet (1989) 1.28
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet (1997) 1.27
Familial translocation (3?--;G?- q+) and nondisjunction of chromosome in group G in two unrelated families. Cytogenetics (1969) 1.26
Oncogenes: clues to carcinogenesis. Eur J Pediatr (1984) 1.25
The acute lymphoblastic leukaemia cell line SEM with t(4;11) chromosomal rearrangement is biphenotypic and responsive to interleukin-7. Br J Haematol (1994) 1.24
Bloom's syndrome. XII. Report from the Registry for 1987. Clin Genet (1989) 1.24
RAS gene mutations in acute and chronic myelocytic leukemias, chronic myeloproliferative disorders, and myelodysplastic syndromes. Proc Natl Acad Sci U S A (1987) 1.20
Analysis of p53 mutations in a large series of lymphoid hematologic malignancies of childhood. Blood (1993) 1.20
Unilateral agenesis of the diaphragm. Humangenetik (1968) 1.18
Incorrect use of the term synteny. Nat Genet (1999) 1.17
Construction of a chromosome 15-specific linking library and identification of potential gene sequences. Genomics (1988) 1.17
bcr rearrangement and translocation of the c-abl oncogene in Philadelphia positive acute lymphoblastic leukemia. Blood (1986) 1.14
Phenotypic and genotypic heterogeneity in infant acute leukemia. II. Acute nonlymphoblastic leukemia. Leukemia (1989) 1.10
Concurrent activation of a novel putative transforming gene, myeov, and cyclin D1 in a subset of multiple myeloma cell lines with t(11;14)(q13;q32). Blood (2000) 1.09
Use of polymerase chain reactions to monitor minimal residual disease in acute lymphoblastic leukemia patients. Blood (1991) 1.08
C-abl and bcr are rearranged in a Ph1-negative CML patient. EMBO J (1985) 1.08
Loss of p73 gene expression in leukemias/lymphomas due to hypermethylation. Blood (1999) 1.08
Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts. Clin Chim Acta (1973) 1.07
T cell receptor-CD3 complex during early T cell differentiation. Analysis of immature T cell acute lymphoblastic leukemias (T-ALL) at DNA, RNA, and cell membrane level. J Immunol (1987) 1.06
Is the chromosomal region 9q34 always involved in variants of the Ph1 translocation? Cancer Genet Cytogenet (1984) 1.06
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet (1995) 1.05
Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote. Birth Defects Orig Artic Ser (1977) 1.05
Mapping of the oncogenes Myc, Sis, and int-1 to the distal part of mouse chromosome 15. Cytogenet Cell Genet (1987) 1.05
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet (1991) 1.04
Mutational analysis of the candidate tumor suppressor genes TEL and KIP1 in childhood acute lymphoblastic leukemia. Cancer Res (1996) 1.04
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences. Genomics (1990) 1.04
Localization of the human c-sis oncogene in Ph1-positive and Ph1-negative chronic myelocytic leukemia by in situ hybridization. Blood (1984) 1.04
The proximal element of the beta globin locus control region is not functionally required in vivo. J Clin Invest (1991) 1.03
Clonal remissions in acute nonlymphocytic leukemia: evidence for a multistep pathogenesis of the malignancy. Blood (1991) 1.03
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome. Hum Genet (1989) 1.03
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am J Hum Genet (1977) 1.03
Bloom's syndrome. V. Surveillance for cancer in affected families. Clin Genet (1977) 1.02
Analysis of a family of cyclin-dependent kinase inhibitors: p15/MTS2/INK4B, p16/MTS1/INK4A, and p18 genes in acute lymphoblastic leukemia of childhood. Blood (1995) 1.02
Aristolochic acid activates ras genes in rat tumors at deoxyadenosine residues. Cancer Res (1990) 1.02
Rapid and reliable detection of N-ras mutations in acute lymphoblastic leukemia by melting curve analysis using LightCycler technology. Leukemia (2000) 1.02
Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study. Leukemia (2006) 1.01
The murine ufo receptor: molecular cloning, chromosomal localization and in situ expression analysis. Oncogene (1992) 1.01
Comparative genomic hybridization analysis in adult T-cell leukemia/lymphoma: correlation with clinical course. Blood (2001) 1.00
Concurrent mutations in two different ras genes in acute myelocytic leukemias. Nucleic Acids Res (1987) 0.99
UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes. Hum Genet (1977) 0.99
Testicular feminisation and inguinal hernia. Lancet (1973) 0.98
Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. J Pediatr (1967) 0.98
Bloom's syndrome. VII. Progress report for 1978. Clin Genet (1979) 0.98
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. Am J Med Genet (1991) 0.97
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet (1999) 0.97
Detection of minimal residual disease in acute lymphoblastic leukemia by in vitro amplification of rearranged T-cell receptor delta chain sequences. Blood (1989) 0.97
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet (1995) 0.96
Bloom's syndrome XI. Progress report for 1983. Clin Genet (1984) 0.96
Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over. Ann Hum Genet (1978) 0.95
Spectrum of small length germline mutations in the RB1 gene. Hum Mol Genet (1994) 0.95
Somatic mosaicism in a patient with bilateral retinoblastoma. Am J Hum Genet (1990) 0.95
Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. J Exp Med (1991) 0.95
Rapid and reliable quantification of minimal residual disease in acute lymphoblastic leukemia using rearranged immunoglobulin and T-cell receptor loci by LightCycler technology. Cancer Res (2000) 0.94
Allelotype analysis of childhood acute lymphoblastic leukemia. Cancer Res (1995) 0.93
Acute lymphoblastic leukemia of childhood: identification of two distinct regions of deletion on the short arm of chromosome 12 in the region of TEL and KIP1. Blood (1996) 0.93
Identification of a novel putative Ran-binding protein and its close homologue. Biochem Biophys Res Commun (2000) 0.93
Marden-Walker syndrome. Birth Defects Orig Artic Ser (1975) 0.92
An oncogenic fusion product of the phosphatidylinositol 3-kinase p85beta subunit and HUMORF8, a putative deubiquitinating enzyme. Oncogene (1998) 0.91
The fusion of TEL and ABL in human acute lymphoblastic leukaemia is a rare event. Br J Haematol (1995) 0.90
TEL is one of the targets for deletion on 12p in many cases of childhood B-lineage acute lymphoblastic leukemia. Leukemia (1997) 0.90
Risk/MRD adapted GMALL trials in adult ALL. Ann Hematol (2004) 0.90
Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. Am J Med Genet (1988) 0.90