rdf:type |
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0205314,
umls-concept:C0205409,
umls-concept:C0332307,
umls-concept:C0439660,
umls-concept:C0679622,
umls-concept:C1306837,
umls-concept:C1708350,
umls-concept:C1850945
|
pubmed:issue |
4
|
pubmed:dateCreated |
2011-3-28
|
pubmed:abstractText |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumour suppressor fumarate hydratase (FH) gene.
|
pubmed:commentsCorrections |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Apr
|
pubmed:issn |
1468-6244
|
pubmed:author |
pubmed-author:AvrilMarie-FrançoiseMF,
pubmed-author:BarroisMichelM,
pubmed-author:BessisDidierD,
pubmed-author:BombledJohnyJ,
pubmed-author:Bressac-de PailleretsBrigitteB,
pubmed-author:CaronOlivierO,
pubmed-author:CauxFrédéricF,
pubmed-author:CollignonPatrickP,
pubmed-author:CoupierIsabelleI,
pubmed-author:CreminCarolC,
pubmed-author:CusinVeronicaV,
pubmed-author:DeveauxSophieS,
pubmed-author:DollfusHélèneH,
pubmed-author:DugastCatherineC,
pubmed-author:EscudierBernardB,
pubmed-author:FaivreLaurenceL,
pubmed-author:FieldMichelM,
pubmed-author:French National Cancer Institute "Inherited predisposition to kidney...,
pubmed-author:GardieBettyB,
pubmed-author:Gilbert-DussardierBrigitteB,
pubmed-author:JaninNicolasN,
pubmed-author:JoulinVirginieV,
pubmed-author:KattygnarathDarounaD,
pubmed-author:LefèvreSandrineS,
pubmed-author:LenoirGilbertG,
pubmed-author:LeportYvesY,
pubmed-author:LerouxDominiqueD,
pubmed-author:LipskerDanD,
pubmed-author:MéjeanArnaudA,
pubmed-author:MalthieuFéliciaF,
pubmed-author:MaugardChristineC,
pubmed-author:McGilliwrayBarbaraB,
pubmed-author:MericJean-BaptisteJB,
pubmed-author:MortemousqueIsabelleI,
pubmed-author:Perrier-TrudovaVictoriaV,
pubmed-author:PlessisGhislaineG,
pubmed-author:PoppeBruceB,
pubmed-author:Pruvost-BallandChristelleC,
pubmed-author:RemenierasAudreyA,
pubmed-author:RichardStéphaneS,
pubmed-author:RookerSerenaS,
pubmed-author:RoumeJoelleJ,
pubmed-author:RustinPierreP,
pubmed-author:SlamaAbdelhamidA,
pubmed-author:SoufirNademN,
pubmed-author:SteinrathsMichelleM,
pubmed-author:TanMin-HanMH,
pubmed-author:TehBin TeanBT,
pubmed-author:ThéodoreChristineC,
pubmed-author:ThomasLucL,
pubmed-author:TidwellR ERE,
pubmed-author:VabresPierreP,
pubmed-author:Van GlabekeEmmanuelE,
pubmed-author:VerkarreVirginieV
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pubmed:issnType |
Electronic
|
pubmed:volume |
48
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
226-34
|
pubmed:dateRevised |
2011-11-17
|
pubmed:meshHeading |
pubmed-meshheading:21398687-Humans,
pubmed-meshheading:21398687-Aged,
pubmed-meshheading:21398687-Kidney Neoplasms,
pubmed-meshheading:21398687-Mutation,
pubmed-meshheading:21398687-Female,
pubmed-meshheading:21398687-Male,
pubmed-meshheading:21398687-Adult,
pubmed-meshheading:21398687-Carcinoma, Renal Cell,
pubmed-meshheading:21398687-Middle Aged,
pubmed-meshheading:21398687-Pedigree,
pubmed-meshheading:21398687-Genotype,
pubmed-meshheading:21398687-Neoplastic Syndromes, Hereditary,
pubmed-meshheading:21398687-Codon, Nonsense,
pubmed-meshheading:21398687-Cell Line, Tumor,
pubmed-meshheading:21398687-Gene Rearrangement,
pubmed-meshheading:21398687-Fumarate Hydratase
|