Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
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Chemoprevention in patients with genetic risk of colorectal cancersClinical practice guidelines and consensus statements in oncology--an assessment of their methodological quality.Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Recurrent and founder mutations in the PMS2 gene.Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous PolyposisNovel Implications in Molecular Diagnosis of Lynch Syndrome.Colon carcinoma in childhood: review of the literature with four case reports.KRAS mutation positive mucinous adenocarcinoma originating in mature ovarian teratoma: case report and review of literature.Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).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.A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.Predictive genetic testing of a bone marrow recipient-ethical issues involving unexpected results, gender issues, test accuracy, and implications for the donor.Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Pitfalls in the diagnosis of biallelic PMS2 mutations.The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.Biallelic Mismatch Repair Deficiency in an Adolescent Female
P2860
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P2860
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
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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
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@ast
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@en
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@nl
type
label
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@ast
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@en
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@nl
prefLabel
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@ast
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@en
Paediatric intestinal cancer a ...... view and follow-up guidelines.
@nl
P2093
P1476
Paediatric intestinal cancer a ...... eview and follow-up guidelines
@en
P2093
Arend Karrenbeld
Carli M J Tops
Frans T M Peters
Heleen M van der Klift
Hermine E Veenstra-Knol
Jan H Kleibeuker
Johanna C Herkert
Maria J W Olderode-Berends
Rene Scheenstra
Renée C Niessen
P304
P356
10.1016/J.EJCA.2011.01.013
P577
2011-03-04T00:00:00Z