Published in J Med Genet on March 01, 1997
Chk2 activation dependence on Nbs1 after DNA damage. Mol Cell Biol (2001) 1.85
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child (2000) 1.56
Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis (2012) 1.27
NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review. Curr Genomics (2013) 0.85
Antigen-specific interaction between T and B cells. Nature (1985) 10.64
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature (1988) 3.82
The p53-dependent G1 cell cycle checkpoint pathway and ataxia-telangiectasia. Cancer Res (1994) 2.41
A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand (1981) 2.16
Nijmegen breakage syndrome. J Med Genet (1996) 1.58
T-cell-rich B-cell lymphomas. A clinicopathologic study of 19 cases. Am J Surg Pathol (1992) 1.50
Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome. Mutat Res (1983) 1.46
Rapid, one step staining procedures for analysis of cellular DNA and protein by single and dual laser flow cytometry. Cytometry (1982) 1.35
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet (1986) 1.25
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. Am J Med Genet (1991) 1.24
A new chromosome instability disorder. Clin Genet (1986) 1.23
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet (1995) 1.19
A chromosomal breakage syndrome with profound immunodeficiency. Blood (1986) 1.16
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet (1989) 1.11
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. Am J Hum Genet (1995) 1.06
Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents. Cancer Res (1982) 1.01
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11. Am J Hum Genet (1996) 0.98
Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia. Hum Genet (1989) 0.92
HLA-unrestricted killing of HSV-1-infected mononuclear cells. Involvement of either gamma/delta+ or alpha/beta+ human cytotoxic T lymphocytes. J Immunol (1993) 0.92
G2/M-phase arrest and release in ataxia telangiectasia and normal cells after exposure to ionizing radiation. Radiat Res (1994) 0.90
Incorporation of (3H)thymidine stimulated by ultraviolet radiation into human fibroblast cultures. Mutat Res (1976) 0.88
Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity. Am J Med Genet (1992) 0.87
Expression of the 170-kDa and 180-kDa isoforms of DNA topoisomerase II in resting and proliferating human lymphocytes. Cell Prolif (1994) 0.86
Natural cytotoxicity in the neonate: high levels of lymphokine activated killer (LAK) activity. Clin Exp Immunol (1988) 0.81
Modulation of radiation-induced chromosomal damage by inhibitors of DNA repair and flow cytometric analysis in ataxia telangiectasia cells with 'intermediate radiosensitivity'. Mutagenesis (1995) 0.80
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science (1995) 15.20
Enhanced phosphorylation of p53 by ATM in response to DNA damage. Science (1998) 10.89
Fixation of ejaculated spermatozoa for electron microscopy. Nature (1967) 5.37
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell (1995) 2.78
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. Am J Hum Genet (1999) 2.26
Oxytocin nasal spray in fibromyalgic patients. Rheumatol Int (2014) 2.22
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Hum Genet (1995) 2.07
Chikungunya in north-eastern Italy: a summing up of the outbreak. Euro Surveill (2007) 2.07
Predominance of null mutations in ataxia-telangiectasia. Hum Mol Genet (1996) 2.06
Decompressive craniectomy may cause diagnostic challenges to assess brain death by computed tomography angiography. Minerva Anestesiol (2013) 2.02
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A (1997) 1.87
Chk2 activation dependence on Nbs1 after DNA damage. Mol Cell Biol (2001) 1.85
Variations of DNA polymerase-alpha and -beta during prolonged stimulation of human lymphocytes. Proc Natl Acad Sci U S A (1976) 1.67
Specific structural determinants are responsible for the antioxidant activity and the cell cycle effects of resveratrol. J Biol Chem (2001) 1.67
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. Cancer Res (2000) 1.61
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59
Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet (1998) 1.55
The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin Genet (1988) 1.54
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet (1998) 1.53
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet (1996) 1.52
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am J Hum Genet (1993) 1.51
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. Mol Cell Biol (1998) 1.50
A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet (2001) 1.50
Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res (1991) 1.48
Clinical severity and molecular typing of human rhinovirus C strains during a fall outbreak affecting hospitalized patients. J Clin Virol (2009) 1.47
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. Br J Dermatol (2013) 1.46
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet (1995) 1.44
Late diagnosis in severe and mild intellectual disability in adulthood. J Intellect Disabil Res (2004) 1.43
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. Proc Natl Acad Sci U S A (1997) 1.39
Cytogenetics of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. Cancer Genet Cytogenet (1992) 1.39
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet (2001) 1.37
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res (1995) 1.37
Correlation of rhinovirus load in the respiratory tract and clinical symptoms in hospitalized immunocompetent and immunocompromised patients. J Med Virol (2009) 1.36
Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium. Am J Hum Genet (1991) 1.34
Status of malaria vectors in Italy. J Med Entomol (1997) 1.33
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet (2001) 1.33
DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat Res (1992) 1.32
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis (1993) 1.32
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am J Hum Genet (1998) 1.32
The cyclin-dependent kinase inhibitors olomoucine and roscovitine arrest human fibroblasts in G1 phase by specific inhibition of CDK2 kinase activity. Exp Cell Res (1998) 1.32
Sensitivity of CHO mutant cell lines with specific defects in nucleotide excision repair to different anti-cancer agents. Int J Cancer (1996) 1.27
Encephalitis without meningitis due to sandfly fever virus serotype toscana. Clin Infect Dis (2001) 1.26
The role of CSA in the response to oxidative DNA damage in human cells. Oncogene (2007) 1.25
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet (1986) 1.25
Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Res (1994) 1.24
Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile. Hum Genet (1977) 1.24
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet (2007) 1.23
Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet (1979) 1.23
A new chromosome instability disorder. Clin Genet (1986) 1.23
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol Genet Metab (2000) 1.21
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet (2007) 1.20
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol (1996) 1.20
Distribution of beta 1 integrin subunit in rat seminiferous epithelium. Biol Reprod (1992) 1.19
Activation of Jun N-terminal kinase/stress-activated protein kinase pathway by tumor necrosis factor alpha leads to intercellular adhesion molecule-1 expression. J Biol Chem (1999) 1.18
Y chromosome controls mating behaviour on Anopheles mosquitoes. Nature (1977) 1.17
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet (2000) 1.17
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum Genet (1998) 1.16
Long-term survival in childhood acute lymphocytic leukemia in Italy. Cancer (1981) 1.16
The fine structure of the neck of mammalian spermatozoa. Anat Rec (1971) 1.15
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology (2006) 1.15
Circulation of West Nile virus lineage 1 and 2 during an outbreak in Italy. Clin Microbiol Infect (2012) 1.14
The novel human gene aprataxin is directly involved in DNA single-strand-break repair. Cell Mol Life Sci (2005) 1.12
Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res (1988) 1.11
Isolation of the synchronized A spermatogonia from adult vitamin A-deficient rat testes. Biol Reprod (1996) 1.11
Identification of the eleventh complementation group of UV-sensitive excision repair-defective rodent mutants. Cancer Res (1992) 1.10
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum Mol Genet (1999) 1.10
Correlation of viral load as determined by real-time RT-PCR and clinical characteristics of respiratory syncytial virus lower respiratory tract infections in early infancy. J Clin Virol (2007) 1.09
Preferential maternal derivation in inv dup(15): analysis of eight new cases. Hum Genet (1981) 1.08
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. Hum Mol Genet (2001) 1.08
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J Invest Dermatol (2001) 1.08
A prospective study on children with initial diagnosis of transient hypogammaglobulinemia of infancy: results from the Italian Primary Immunodeficiency Network. Int J Immunopathol Pharmacol (2008) 1.08
Role of alpha7-nicotinic acetylcholine receptor in human non-small cell lung cancer proliferation. Cell Prolif (2008) 1.07
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. EMBO J (2000) 1.04
Changing circulation rate of human metapneumovirus strains and types among hospitalized pediatric patients during three consecutive winter-spring seasons. Brief report. Arch Virol (2005) 1.04
TCL1 oncogene activation in preleukemic T cells from a case of ataxia-telangiectasia. Blood (1995) 1.03
Molecular linkage maps of Vitis vinifera L. and Vitis riparia Mchx. Theor Appl Genet (2002) 1.02
Phenotypic heterogeneity in nucleotide excision repair mutants of rodent complementation groups 1 and 4. Mutat Res (1997) 1.02
A family with three sibs carrying trisomy 21. Ann Genet (1975) 1.02
Dup(3)(p2----pter) in two families, including one infant with cyclopia. Am J Med Genet (1985) 1.01
The cyclin-dependent kinase inhibitor p21CDKN1A as a target of anti-cancer drugs. Curr Cancer Drug Targets (2012) 1.01
Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes. Carcinogenesis (1995) 1.01
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res (1995) 1.00
Isolation of Chinese hamster ovary cells with reduced unscheduled DNA synthesis after UV irradiation. Somatic Cell Genet (1982) 1.00
Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet (1993) 1.00
Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia. Cancer Res (1998) 0.99
A hydrolysed rice-based formula is tolerated by children with cow's milk allergy: a multi-centre study. Clin Exp Allergy (2006) 0.99
Integrin receptor alpha 6 beta 1 is localized at specific sites of cell-to-cell contact in rat seminiferous epithelium. Biol Reprod (1995) 0.99
Anthocyanins protect against DNA damage induced by tert-butyl-hydroperoxide in rat smooth muscle and hepatoma cells. Mutat Res (2003) 0.99
Study of the bone pathology in early mucolipidosis II (I-cell disease). Eur J Pediatr (1989) 0.98
Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet (1996) 0.98
Cd bands and centromeric function in dicentric chromosomes. Hum Genet (1980) 0.98
A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet (1980) 0.98