Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
about
PMS2 monoallelic mutation carriers: the known unknownGermline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancerAgenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Long-term epilepsy-associated tumors.A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.
P2860
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P2860
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@ast
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@en
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@nl
type
label
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@ast
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@en
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@nl
prefLabel
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@ast
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@en
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@nl
P2093
P2860
P1433
P1476
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
@en
P2093
C M J Tops
D A M Heideman
H M van der Klift
H Te Riele
J T Wijnen
M A J M Jacobs
N C T van Grieken
P C Johannesma
P2860
P304
P356
10.1111/J.1399-0004.2011.01635.X
P577
2011-02-20T00:00:00Z