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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(11)
Elsevier电子期刊(9)
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:0.0139924 秒
在所有数据库中总计命中:
21
条
1.
Review: Clinical aspects of hereditary DNA
Mismatch
repair
gene mutations
作者:
Rolf H. Sijmons
a
;
r.h.sijmons@umcg.nl" class="auth_mail" title="E-mail the corresponding author
;
Robert M.W. Hofstra
b
;
r.hofstra@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author
关键词:
Lynch
syndrome
;
Constitutional
Mismatch
Repair
Deficiency
syndrome
;
clinic
;
DNA
Mismatch
repair
;
MLH1
;
MSH2
;
PMS2
;
MSH6
;
review
刊名:DNA
Repair
出版年:2016
2.
Acute lymphoblastic leukemia and lymphoma in the context of
constitutional
mismatch
repair
deficiency
syndrome
作者:
Tim Ripperger
;
ripperger.tim@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author
;
Brigitte Schlegelberger
关键词:
Acute lymphoblastic leukemia
;
Constitutional
mismatch
repair
deficiency
(CMMRD)
;
Genetic predisposition
;
Pediatric cancer predisposition
刊名:European Journal of Medical Genetics
出版年:2016
3.
Genetic and clinical determinants of
constitutional
mismatch
repair
deficiency
syndrome
: Report from the
constitutional
mismatch
repair
deficiency
consortium
作者:
Doua Bakry
a
;
b
;
Melyssa Aronson
c
;
Carol Durno
c
;
d
;
Hala Rimawi
e
;
Roula Farah
f
;
Qasim Kholaif Alharbi
g
;
Musa Alharbi
h
;
Ashraf Shamvil
i
;
Shay Ben-Shachar
j
;
Matthew Mistry
k
;
Shlomi Constantini
l
;
Rina Dvir
m
;
Ibrahim Qaddoumi
n
;
Steven Gallinger
c
;
Jordan Lerner-Ellis
o
;
p
;
q
;
Aaron Pollett
o
;
p
;
Derek Stephens
r
;
s
;
Steve Kelies
t
;
Elizabeth Chao
t
;
David Malkin
a
;
b
;
Eric Bouffet
a
;
b
;
u
;
Cynthia Hawkins
b
;
v
;
Uri Tabori
a
;
b
;
u
;
uri.tabori@sickkids.ca" class="auth_mail
关键词:
Constitutional
mismatch
repair
deficiency
syndrome
;
MLH1
;
MSH2
;
PMS2
;
MSH6
;
Microsatellite instability
刊名:European Journal of Cancer
出版年:March, 2014
4.
Simultaneous Colonic Adenocarcinoma and Medulloblastoma in a 12-Year-Old with Biallelic Deletions in PMS2
作者:
Holly Lindsay
;
Rima F. Jubran
;
Larry Wang
;
Benjamin R. Kipp
;
William A. May
关键词:
CMMR-D
;
Constitutional
mismatch
repair
-
deficiency
;
MRI
;
Magnetic resonance imaging
刊名:The Journal of Pediatrics
出版年:2013
5.
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a
constitutional
PMS2
deficiency
作者:
P. Vasovcak
a
;
pevas78@hotmail.com
;
A. Krepelova
a
;
M. Menigatti
b
;
A. Puchmajerova
a
;
P. Skapa
c
;
A. Augustinakova
c
;
G. Amann
d
;
A. Wernstedt
e
;
J. Jiricny
b
;
G. Marra
b
;
1
;
K. Wimmer
e
;
1
关键词:
TDG
;
Colorectal cancer
;
CMMR-D
syndrome
;
MMR
repair
;
Supermutator
刊名:DNA
Repair
出版年:2012
6.
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
作者:
Johanna C. Herkert
a
;
j.c.herkert@medgen.umcg.nl
;
René
;
e C. Niessen
a
;
Maria J.W. Olderode-Berends
a
;
Hermine E. Veenstra-Knol
a
;
Yvonne J. Vos
a
;
Heleen M. van der Klift
b
;
Rene Scheenstra
c
;
Carli M.J. Tops
b
;
Arend Karrenbeld
d
;
Frans T.M. Peters
e
;
Robert M.W. Hofstra
a
;
Jan H. Kleibeuker
e
;
Rolf H. Sijmons
a
关键词:
Constitutional
MMR-
deficiency
syndrome
;
Bi-allelic PMS2 mutation
;
Paediatric gastrointestinal cancer
;
Follow-up recommendations
刊名:European Journal of Cancer
出版年:2011
7.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch
syndrome
: a cohort study
刊名:Lancet Oncology
出版年:2011
8.
Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia
作者:
Hani Alotaibi
;
Marie D. Ricciardone
;
Mehmet Ozturk
关键词:
Neurofibromatosis type 1
;
MLH1
;
NF1
;
Cooperative effect
;
Downstream mutation
刊名:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
出版年:2008
9.
Optimising methods for determining RER status in colorectal cancers
作者:
Stone
;
J.G.
;
Tomlinson
;
I.P.M.
;
Houlston
;
R.S.
关键词:
Microsatellite instability
;
Replication error
;
Colorectal cancer
刊名:Cancer Letters
出版年:2000
1
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