Variant ataxia telangiectasia: Clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives

NeuroMolecular Medicine

Volumn 15, Issue 3, 2013, Pages 447-457

  Claes, Kathleen ^a   Depuydt, Julie ^b   Taylor, A Malcolm R ^c   Last, James I ^c   Baert, Annelot ^a,b   Schietecatte, Peter ^a   Vandersickel, Veerle ^d   Poppe, Bruce ^a   De Leeneer, Kim ^a   D'Hooghe, Marc ^e   Vral, Anne ^b  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY   (Belgium)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d ITHEMBA LABS   (South Africa)

^e General Hospital St Jan   (Belgium)

Author keywords

ATM heterozygous carriers; cDNA analysis; In vitro radiosensitivity; Kinase assay; S G2 micronucleus assay; Variant ataxia telangiectasia

Indexed keywords

ALPHA FETOPROTEIN; BACLOFEN; LEVODOPA; PSYCHOTROPIC AGENT; TETRAZEPAM;

ADULT; ANAMNESIS; ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; CASE REPORT; CELL CYCLE CHECKPOINT; CELL CYCLE PROGRESSION; CEREBRAL PALSY; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DYSTONIA; ENZYME ACTIVITY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; IMMUNOGLOBULIN A DEFICIENCY; MENTAL DISEASE; MICRONUCLEUS TEST; MISSENSE MUTATION; MOLECULAR TYPING; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOTHERAPY; RADIOSENSITIVITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STRABISMUS;

ATAXIA TELANGIECTASIA;

ADULT; AMINO ACID SUBSTITUTION; ATAXIA TELANGIECTASIA; ATAXIA TELANGIECTASIA MUTATED PROTEINS; BREAST NEOPLASMS; CAFFEINE; CHILD; EXONS; FEMALE; G2 PHASE; HETEROZYGOTE; HUMANS; LYMPHOCYTES; MALE; MICRONUCLEUS TESTS; MUTATION, MISSENSE; NEOPLASTIC SYNDROMES, HEREDITARY; NEUROLOGIC EXAMINATION; PEDIGREE; PHENOTYPE; RADIATION TOLERANCE; RECOMBINATIONAL DNA REPAIR; RHABDOMYOSARCOMA, EMBRYONAL; RNA SPLICE SITES; S PHASE; SEQUENCE ANALYSIS, DNA;

EID: 84881479814     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-013-8231-4     Document Type: Article

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