Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
about
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.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.Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR.Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
P2860
Q37592779-193D2188-367D-45D9-8F41-EAA604E2D043Q38204965-B4572F85-0D1B-49D1-B4C0-6580ACBDA299Q38576104-A845F915-6748-4E52-85CA-9CF0416490C1Q38806007-F1C920B1-D0EA-4B76-BD54-891A87882410Q38862392-AC57875F-41A7-4147-9AA6-A026DDB2B238Q41641872-B7F9EC2E-E462-4AEE-AE55-BD04ACCF76DAQ46987276-37C49E79-42A0-47F6-8673-C406FE95DDA0Q47231154-7D0D250B-28E8-40AD-A6E4-9AEC7785EAFCQ48142903-BFF45601-A55E-4F4C-A3C6-5A7FF54FBDD3Q48146016-88657601-357C-4A2D-B4C7-8BB7E0540155
P2860
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Simple detection of germline m ...... smatch repair cancer syndrome.
@en
Simple detection of germline m ...... smatch repair cancer syndrome.
@en-gb
Simple detection of germline m ...... smatch repair cancer syndrome.
@nl
type
label
Simple detection of germline m ...... smatch repair cancer syndrome.
@en
Simple detection of germline m ...... smatch repair cancer syndrome.
@en-gb
Simple detection of germline m ...... smatch repair cancer syndrome.
@nl
prefLabel
Simple detection of germline m ...... smatch repair cancer syndrome.
@en
Simple detection of germline m ...... smatch repair cancer syndrome.
@en-gb
Simple detection of germline m ...... smatch repair cancer syndrome.
@nl
P2093
P2860
P50
P356
P1433
P1476
Simple detection of germline m ...... smatch repair cancer syndrome.
@en
P2093
Bruce E Hayward
Claire A Bristow
Danielle Ingham
Eamonn G Sheridan
Ian M Carr
P2860
P304
P356
10.1002/HUMU.22311
P577
2013-04-02T00:00:00Z