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Classic report in hematotherapy - Successful marrow transplantation for correction of immunological deficit in lymphopenic agammaglobulinemia and treatment of immunologically induced pancytopenia (Reprinted from ExperimentalHematology, vol 11, pg 4-10, 1969)
JOURNAL OF HEMATOTHERAPY & STEM CELL RESEARCH
The pathogenesis of ataxia-telangiectasia - Learning from a Rosetta Stone
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
The inherited basis of human radiosensitivity
ACTA ONCOLOGICA
Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia
JOURNAL OF PEDIATRICS
Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
MOLECULAR GENETICS AND METABOLISM
ATM-dependent phosphorylation of nibrin in response to radiation exposure
NATURE GENETICS
Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4(+) and CD8(+) T lymphocytes is ATM-independent.
INTERNATIONAL IMMUNOLOGY
Ataxia-telangiectasia - A primary immunodeficiency revisited
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA
Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: Evidence that the scanning conditions are generic
BIOTECHNIQUES
The molecular basis and clinical management of ataxia telangiectasia
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
V(D)J rearrangement in Nijmegen breakage syndrome
MOLECULAR IMMUNOLOGY
Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products
NATURE
Nijmegen breakage syndrome
ARCHIVES OF DISEASE IN CHILDHOOD
Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations
MOLECULAR GENETICS AND METABOLISM
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy
HUMAN MUTATION
Physical map of the region surrounding the Ataxia-Telangiectasia gene on human chromosome 11q22-23
NEUROPEDIATRICS
A mark on the arm: Myths of carrier status in sibs of individuals with ataxia-telangiectasia
AMERICAN JOURNAL OF MEDICAL GENETICS
NS22: A highly polymorphic complex microsatellite marker within the ATM gene
AMERICAN JOURNAL OF MEDICAL GENETICS
Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer
BRITISH JOURNAL OF CANCER
Splicing defects in the ataxia-telangiectasia gene, ATM: Underlying mutations and consequences
AMERICAN JOURNAL OF HUMAN GENETICS
A MODEL FOR ATM HETEROZYGOTE IDENTIFICATION IN A LARGE POPULATION - 4FOUNDER-EFFECT ATM MUTATIONS IDENTIFY MOST OF COSTA-RICAN PATIENTS WITH ATAXIA-TELANGIECTASIA
MOLECULAR GENETICS AND METABOLISM
MAGE XP-2 - A MEMBER OF THE MAGE GENE FAMILY ISOLATED FROM AN EXPRESSION LIBRARY USING SYSTEMIC LUPUS-ERYTHEMATOSUS SERA
MOLECULAR GENETICS AND METABOLISM
DELETION MAPPING OF ENDOCRINE TUMORS LOCALIZES A 2ND TUMOR-SUPPRESSORGENE ON CHROMOSOME BAND 11Q13
Genes, chromosomes & cancer
NO EVIDENCE FOR CONSTITUTIONAL ATM MUTATION IN BREAST GASTRIC CANCER FAMILIES/
International journal of oncology
ATAXIA-TELANGIECTASIA - MUTATIONS AND MOLECULAR DIAGNOSTICS
Molecular immunology
ATAXIA-TELANGIECTASIA IN COSTA-RICA - CLINICAL, LABORATORY AND GENETIC-CHARACTERISTICS
Molecular immunology
NIBRIN, A NOVEL DNA DOUBLE-STRAND BREAK REPAIR PROTEIN, IS MUTATED INNIJMEGEN BREAKAGE SYNDROME
Cell
FINE LOCALIZATION OF THE NIJMEGEN BREAKAGE SYNDROME GENE TO 8Q21 - EVIDENCE FOR A COMMON FOUNDER HAPLOTYPE
American journal of human genetics
GENOTYPE-PHENOTYPE RELATIONSHIPS IN ATAXIA-TELANGIECTASIA AND VARIANTS
American journal of human genetics
ATAXIA-TELANGIECTASIA - IDENTIFICATION AND DETECTION OF FOUNDER-EFFECT MUTATIONS IN THE ATM GENE IN ETHNIC POPULATIONS
American journal of human genetics
CONGENITAL OLIVOPONTOCEREBELLAR ATROPHY - REPORT OF 2 SIBLINGS WITH PALEOCEREBELLAR AND NEOCEREBELLAR ATROPHY
Acta Neuropathologica
DIVERSITY OF ATM GENE-MUTATIONS DETECTED IN PATIENTS WITH ATAXIA-TELANGIECTASIA
Human mutation
CAND3 - A UBIQUITOUSLY EXPRESSED GENE IMMEDIATELY ADJACENT AND IN OPPOSITE TRANSCRIPTIONAL ORIENTATION TO THE ATM GENE AT 11Q23.1
Mammalian genome
CHROMOSOME INSTABILITY WITH BLEOMYCIN AND X-RAY HYPERSENSITIVITY IN ABOY WITH NIJMEGEN BREAKAGE SYNDROME
American journal of medical genetics
ATAXIA-TELANGIECTASIA - DETECTION OF ATM MUTATIONS IN ETHNIC POPULATIONS
Journal of allergy and clinical immunology
FRIEDREICHS ATAXIA GAA REPEAT EXPANSION IN PATIENTS WITH RECESSIVE ORSPORADIC ATAXIA
Neurology
DEFECTIVE SIGNALING THROUGH THE B-CELL ANTIGEN RECEPTOR IN EPSTEIN-BARR VIRUS-TRANSFORMED ATAXIA-TELANGIECTASIA CELLS
The Journal of biological chemistry
PANCREATIC ENDOCRINE TUMORS WITH LOSS OF HETEROZYGOSITY AT THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-I LOCUS
The American journal of surgery
AN ALLELIC VARIANT AT THE ATM LOCUS IS IMPLICATED IN BREAST-CANCER SUSCEPTIBILITY
American journal of human genetics
ETHNIC PREVALENCE OF THE CKR-5-DELTA-32 MUTATION IN 4 NORTH-AMERICAN POPULATIONS
American journal of human genetics
BELIEFS EF CARRIER STATUS BY PARENTS AND SIBLINGS OF INDIVIDUALS WITHATAXIA-TELANGIECTASIA
American journal of human genetics
CHARACTERIZATION AND DETECTION OF MUTATIONS IN THE ATM GENE
American journal of human genetics
PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA
Human molecular genetics
ASSIGNMENT OF THE MOUSE ATAXIA-TELANGIECTASIA GENE (ATM) TO MOUSE CHROMOSOME-9
Mammalian genome
DESIGNING POSITIVE INTERNAL CONTROLS FOR MUTATION DETECTION GELS
BioTechniques
PREVALENCE OF RET PROTOONCOGENE MUTATIONS IN SPORADIC PHEOCHROMOCYTOMAS
Laboratory investigation
A SINGLE-STRAND CONFORMATION POLYMORPHISM STUDY OF CD40 LIGAND - EFFICIENT MUTATION ANALYSIS AND CARRIER DETECTION FOR X-LINKED HYPER IGM SYNDROME
The Journal of clinical investigation
ATAXIA-TELANGIECTASIA AND GENETIC PREDISP OSITION TO CANCER
Bulletin du cancer
HIGH-FREQUENCY OF DISTINCT ATM GENE-MUTATIONS IN ATAXIA-TELANGIECTASIA
American journal of human genetics
ATAXIA-TELANGIECTASIA - MUTATIONS IN ATM CDNA DETECTED BY PROTEIN-TRUNCATION SCREENING
American journal of human genetics
NEW LOCALIZATION OF NCAM, PROXIMAL TO DRD2 AT CHROMOSOME 11Q23
Mammalian genome
ATAXIA-TELANGIECTASIA
Dermatologic clinics
A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE
Science
A NEW PROTOCOL TO CONFIDENTLY SCREEN FOR MUTATIONS USING SSCP AND HETERODUPLEX ANALYSIS
American journal of human genetics
THE ATAXIA-TELANGIECTASIA-VARIANT GENE-1 AND GENE-2 ARE DISTINCT FROMTHE ATAXIA-TELANGIECTASIA GENE ON CHROMOSOME-11Q23.1
American journal of human genetics
SUBLOCALIZATION OF AN ATAXIAL-TELANGIECTASIA GENE DISTAL TO D115384 BY ANCESTRAL HAPLOTYPING IN COSTA-RICAN FAMILIES
American journal of human genetics
LOCATION OF AN ATAXIA-TELANGIECTASIA GENE TO AN SIMILAR-TO-500-KB INTERVAL ON CHROMOSOME 11Q23.1 - LINKAGE ANALYSIS OF 176 FAMILIES BY AN INTERNATIONAL CONSORTIUM
American journal of human genetics
GENETIC HAPLOTYPING OF ATAXIA-TELANGIECTASIA FAMILIES LOCALIZES THE MAJOR GENE TO AN SIMILAR-TO-850 KB REGION ON CHROMOSOME 11Q23.1
International journal of radiation biology
ATAXIA-TELANGIECTASIA - FLOW CYTOMETRIC CELL-CYCLE ANALYSIS OF LYMPHOBLASTOID CELL-LINES IN G(2) M BEFORE AND AFTER GAMMA-IRRADIATION/
Modern pathology
A PULSED-FIELD GEL-ELECTROPHORESIS MAP IN THE ATAXIA-TELANGIECTASIA REGION OF CHROMOSOME-11Q22-3
Genomics
G(2) M-PHASE ARREST AND RELEASE IN ATAXIA-TELANGIECTASIA AND NORMAL-CELLS AFTER EXPOSURE TO IONIZING-RADIATION
Radiation research
SPONTANEOUS CHROMOSOME BREAKAGE IN ATAXIA-TELANGIECTASIA (A-T) HETEROZYGOTES
Pediatric research
INTERNATIONAL WORKSHOP ON ATAXIA-TELANGIECTASIA
Cancer research
RADIOSENSITIVITY OF ATAXIA-TELANGIECTASIA, X-LINKED AGAMMAGLOBULINEMIA, AND RELATED SYNDROMES USING A MODIFIED COLONY SURVIVAL ASSAY
Cancer research
THE AH RECEPTOR NUCLEAR TRANSLOCATOR GENE (ARNT) IS LOCATED ON Q21 OFHUMAN CHROMOSOME-1 AND ON MOUSE CHROMOSOME-3 NEAR CF-3
Genomics
PRENATAL GENOTYPING OF ATAXIA-TELANGIECTASIA
Lancet
LINKAGE ANALYSIS OF DRD2, A MARKER LINKED TO THE ATAXIA-TELANGIECTASIA GENE, IN 64 FAMILIES WITH PREMENOPAUSAL BILATERAL BREAST-CANCER
Cancer research
SIMILAR ETIOLOGY OF FORMATION OF VONHIPPEL-LINDAU, MEN-I, AND SPORADIC PANCREATIC-ISLET CELL TUMORS BASED ON LOSS OF HETEROZYGOSITY AT 11Q13
American journal of human genetics
LOCALIZATION OF POLYMORPHIC PROBES IN THE REGION OF ATAXIA-TELANGLECTASIA AT CHROMOSOME-11Q22
American journal of human genetics
STR PRIMER EXTENSION - AN EFFICIENT METHOD FOR ISOLATING SHORT TANDEMREPEATS
American journal of human genetics
A PFGE MAP OF THE ATAXIA-TELANGIECTASIA REGION AT 11Q22.3
American journal of human genetics
PRENATAL-DIAGNOSIS OF ATAXIA-TELANGIECTASIA BY GENOTYPING
American journal of human genetics
A NEW METHOD FOR SCREENING CDNA LIBRARIES FOR REPEAT SEQUENCES
American journal of human genetics
LOCALIZATION OF THE SEA MARKER WITHIN THE MEN-I CONSENSUS REGION AND THE EXCLUSION OF KRN-1
American journal of human genetics
ATAXIA-TELANGIECTASIA - LINKAGE ANALYSIS IN HIGHLY INBRED ARAB AND DRUZE FAMILIES AND DIFFERENTIATION FROM AN ATAXIA-MICROCEPHALY-CATARACT SYNDROME
Human genetics