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Wiley电子期刊(17)
SpringerLink电子期刊(144)
Elsevier电子期刊(171)
Springer电子图书(2)
NATURE电子期刊(7)
在“
Elsevier电子期刊
”中,
命中:
171
条,耗时:小于0.01 秒
在所有数据库中总计命中:
341
条
1.
Distinct Patterns of
Somatic
Mosaicism
in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis
作者:
Anne M.L. Jansen
1
;
2
;
Stijn Crobach
1
;
Willemina R.R. Geurts-Giele
3
;
Brendy E.W.M. van den Akker
1
;
Marina Ventayol Garcia
1
;
Dina Ruano
1
;
Maartje Nielsen
4
;
Carli M.J. Tops
4
;
Juul T. Wijnen
2
;
4
;
Frederik J. Hes
4
;
Tom van Wezel
1
;
Winand N.M. Dinjens
3
;
Hans Morreau
1
;
j.morreau@lumc.nl
关键词:
unexplained polyposis
;
mutation
;
Wnt signaling
;
colorectal carcinogenesis
刊名:Gastroenterology
出版年:2017
2.
Somatic
KCNJ5 mutation occurring early in adrenal development may cause a novel form of juvenile primary aldosteronism
作者:
Ai Tamura
a
;
1
;
Koshiro Nishimoto
d
;
e
;
1
;
k.nishimoto@keio.jp
;
Tsugio Seki
h
;
Yoko Matsuzawa
a
;
Jun Saito
a
;
Masao Omura
a
;
Celso E. Gomez-Sanchez
i
;
Kohzoh Makita
a
;
j
;
Seishi Matsui
b
;
Nobukazu Moriya
b
;
Atsushi Inoue
c
;
Maki Nagata
c
;
Hironobu Sasano
k
;
Yasuhiro Nakamura
k
;
Yuto Yamazaki
k
;
Yasuaki Kabe
e
;
Kuniaki Mukai
e
;
g
;
Takeo Kosaka
f
;
Mototsugu Oya
f
;
Sachiko Suematsu
a
;
Tetsuo Nishikawa
a
;
tetsuon@yokohamah.rofuku.go.jp
关键词:
Genetic
mosaicism
;
KCNJ5
;
Primary aldosteronism
;
Juvenile
刊名:Molecular and Cellular Endocrinology
出版年:2017
3.
Primary T-cell immunodeficiency with functional revertant
somatic
mosaicism
in CD247
刊名:Journal of Allergy and Clinical Immunology
出版年:2017
4.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
作者:
Asbjø
;
rg Stray-Pedersen
;
MD
;
PhD
a
;
b
;
c
;
d
;
e
;
&lowast
;
;
astraype@ous-hf.no
;
Hanne Sø
;
rmo Sorte
;
MS
f
;
g
;
&lowast
;
;
Pubudu Samarakoon
;
MS
f
;
g
;
Tomasz Gambin
;
PhD
a
;
h
;
Ivan K. Chinn
;
MD
b
;
c
;
i
;
Zeynep H. Coban Akdemir
;
PhD
a
;
Hans Christian Erichsen
;
MD
;
PhD
e
;
Lisa R. Forbes
;
MD
b
;
c
;
i
;
Shen Gu
;
PhD
a
;
Bo Yuan
;
PhD
a
;
j
;
Shalini N. Jhangiani
;
MS
a
;
j
;
k
;
Donna M. Muzny
;
MS
a
;
j
;
k
;
Olaug Kristin Rø
;
dningen
;
PhD
f
;
Ying Sheng
;
PhD
f
;
Sarah K. Nicholas
;
MD
;
PhD
b
;
c
;
i
;
Lenora M. Noroski
;
MD
;
MPH
c
;
i
;
Filiz O. Seeborg
;
MD
;
MPH
c
;
i
;
Carla M. Davis
;
MD
c
;
i
;
Debra L. Canter
;
MS
c
;
i
;
Emily M. Mace
;
PhD
b
;
c
;
Timothy J. Vece
;
MD
i
;
Carl E. Allen
;
MD
;
PhD
i
;
l
;
m
;
Harshal A. Abhyankar
;
MS
i
;
l
;
m
;
Philip M. Boone
;
MD
;
PhD
a
;
j
;
Christine R. Beck
;
PhD
a
;
j
;
Wojciech Wiszniewski
;
MD
;
PhD
a
;
j
;
Bø
;
rre Fevang
;
MD
;
PhD
g
;
n
;
På
;
l Aukrust
;
MD
;
PhD
g
;
n
;
Geir E. Tjø
;
nnfjord
;
MD
;
PhD
g
;
o
;
Tobias Gedde-Dahl
;
MD
;
PhD
o
;
Henrik Hjorth-Hansen
;
MD
;
PhD
p
;
q
;
Ingunn Dybedal
;
MD
;
PhD
o
;
Ingvild Nordø
y ;
MD
;
PhD
g
;
n
;
Silje F. Jø
;
rgensen
;
MD
n
;
Tore G. Abrahamsen
;
MD
;
PhD
e
;
g
;
Torstein Ø
;
verland
;
MD
e
;
Anne Grete Bechensteen
;
MD
;
PhD
e
;
Vegard Skogen
;
MD
;
PhD
r
;
Liv T.N. Osnes
;
MD
;
PhD
s
;
Mari Ann Kulseth
;
PhD
f
;
Trine E. Prescott
;
MD
f
;
Cecilie F. Rustad
;
MD
f
;
Ketil R. Heimdal
;
MD
;
PhD
f
;
John W. Belmont
;
MD
;
PhD
j
;
Nicholas L. Rider
;
DO
b
;
c
;
i
;
Javier Chinen
;
MD
;
PhD
c
;
i
;
Tram N. Cao
;
MS
b
;
c
;
i
;
Eric A. Smith
;
BSc
t
;
Maria Soledad Caldirola
;
BSc
u
;
Liliana Bezrodnik
;
MD
u
关键词:
Primary immunodeficiency disease
;
whole-exome sequencing
;
copy number variants
刊名:Journal of Allergy and Clinical Immunology
出版年:2017
5.
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of
somatic
instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
作者:
Fernando Morales
a
;
b
;
c
;
fernando.moralesmontero@ucr.ac.cr" class="auth_mail" title="E-mail the corresponding author
;
Melissa Vá
;
squez
a
;
c
;
Carolina Santamarí
;
a
a
;
d
;
Patricia Cuenca
a
;
b
;
c
;
Eyleen Corrales
a
;
Darren G. Monckton
e
关键词:
Myotonic dystrophy
;
Somatic
mosaicism
;
Modifier gene
;
DNA mismatch repair
;
Simple sequence repeat
;
Trinucleotide repeat
刊名:DNA Repair
出版年:2016
6.
Somatic
mosaicism
of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly
作者:
Korné
;
lia Tripolszki
a
;
Rachel Knox
b
;
Victoria Parker
b
;
Robert Semple
b
;
Katalin Farkas
c
;
Adrien Sulá
;
k
a
;
Emese Horvá
;
th
a
;
Má
;
rta Szé
;
ll
a
;
c
;
Nikoletta Nagy
a
;
c
;
nikoletta.nagy@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Overgrowth syndromes
;
Macrodactyly and syndactyly
;
PIK3CA gene
;
Somatic
mutation
;
Phenotypic diversity
刊名:European Journal of Medical Genetics
出版年:2016
7.
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level
somatic
mosaic mother: Genetic and functional studies
作者:
Meng-Han Tsai
a
;
j
;
Pei-Wen Kuo
b
;
Candace T. Myers
c
;
Shih-Wen Li
a
;
Wei-Che Lin
d
;
Ting-Ying Fu
e
;
Hsin-Yun Chang
f
;
Heather C. Mefford
c
;
Yao-Chung Chang
a
;
g
;
h
;
ycchuang@cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author
;
Jin-Wu Tsai
b
;
i
;
tsaijw@ym.edu.tw" class="auth_mail" title="E-mail the corresponding author
关键词:
DCX
;
Somatic
mosaicism
;
Lissencephaly
;
Double cortex
;
Subcortical band heterotopia
;
Functional study
;
Doublecortin
;
Microtubule
刊名:European Journal of Paediatric Neurology
出版年:2016
8.
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage
somatic
mosaic RASopathy
作者:
Young H. Lim
;
BS
a
;
Diana Ovejero
;
MD
b
;
c
;
Kristina M. Derrick
;
MD
;
MSc
d
;
Yale Center for Mendelian Genomics
关键词:
congenital melanocytic nevus
;
cutaneous skeletal hypophosphatemia syndrome
;
epidermal nevus
;
fibroblast growth factor-23
;
mosaicism
;
nevus syndrome
;
rickets
刊名:Journal of the American Academy of Dermatology
出版年:2016
9.
A Mechanism for
Somatic
Brain
Mosaicism
作者:
Irving L. Weissman
1
;
irv@stanford.edu" class="auth_mail" title="E-mail the corresponding author
;
Fred H. Gage
2
;
gage@salk.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Cell
出版年:2016
10.
Erratum to:
Somatic
Mosaicism
: Implications for Disease and Transmission Genetics
作者:
Ian M. Campbell
1
;
Chad A. Shaw
1
;
2
;
3
;
Pawel Stankiewicz
1
;
James R. Lupski
1
;
4
;
5
;
6
刊名:Trends in Genetics
出版年:2016
1
2
3
4
5
6
7
8
9
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