Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Human Mutation

Volumn 33, Issue 3, 2012, Pages 561-571

  Verhagen, Mijke M M ^a   Last, James I ^b   Hogervorst, Frans B L ^c   Smeets, Dominique F C M ^a   Roeleveld, Nel ^a   Verheijen, Frans ^d   Catsman Berrevoets, Coriene E ^d   Wulffraat, Nico M ^e   Cobben, Jan M ^f   Hiel, Johan ^g   Brunt, Ewout R ^h   Peeters, Els A J ⁱ   Gómez Garcia, Encarna B ^j   van der Knaap, Marjo S ^f   Lincke, Carsten R ^k   Laan, Laura A E M ^l   Tijssen, Marina A J ^m   van Rijn, Monique A ^l   Majoor Krakauer, Danielle ^d   Visser, Marjan ⁿ   van 't Veer, Laura J ^c   Kleijer, Wim J ^d   van de Warrenburg, Bart P C ^a   Warris, Adilia ^a   de Groot, Imelda J M ^a   de Groot, Ronald ^a   Broeks, Annegien ^c   Preijers, Frank ^a   Kremer, Berry H P H ^g   Weemaes, Corry M R ^a   Taylor, Malcolm A M R ^b   van Deuren, Marcel ^a   Willemsen, Michèl A A P ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^g ST ANNA HOSPITAL   (Netherlands)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ JULIANA CHILDREN S HOSPITAL   (Netherlands)

^j MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^k Maasstad Hospital Rotterdam   (Netherlands)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m ACADEMIC MEDICAL CENTER   (Netherlands)

ⁿ Leiden University Medical Centre ^*  (Netherlands)

more..

Author keywords

AT; Ataxia telangietasia; ATM; Cancer; Genotype phenotype

Indexed keywords

ATM PROTEIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G2; PHOSPHOTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA TELANGIECTASIA; CANCER RISK; CEREBELLAR ATAXIA; CHILD; CONTROLLED STUDY; ENDOCRINE FUNCTION; ENZYME ACTIVITY; FEMALE; FISHER EXACT TEST; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNE RESPONSE; LABORATORY TEST; LIFESPAN; LUNG FUNCTION; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SCHOOL CHILD; X RAY;

ADOLESCENT; ADULT; ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; CHILD; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

ATAXIA TELANGIECTASIA;

EID: 84857062467     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22016     Document Type: Article

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