设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
Springer电子图书(2)
CNKI会议论文(3)
CNKI学位论文(3871)
CNKI期刊论文0611(2)
知网期刊论文(1885)
在“
Elsevier电子期刊
”中,
命中:
1,151
条,耗时:0.0299824 秒
在所有数据库中总计命中:
5,763
条
1.
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe
Combined
Immunodeficiency
Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT
作者:
Jennifer Heimall
1
;
Jennifer Puck
2
;
Rebecca Buckley
3
;
Thomas A. Fleisher
4
;
Andrew R. Gennery
5
;
Benedicte Neven
6
;
Mary Slatter
5
;
Elie Haddad
7
;
Luigi D. Notarangelo
8
;
K. Scott Baker
9
;
Andrew C. Dietz
10
;
Christine Duncan
11
;
Michael A. Pulsipher
10
;
mpulsipher@chla.usc.edu
;
Mort J. Cowan
2
关键词:
Late effects
;
Pediatric allogeneic bone marrow transplantation
;
Severe
combined
immunodeficiency
刊名:Biology of Blood and Marrow Transplantation
出版年:2017
2.
Neonatal screening for severe
combined
immunodeficiency
in Brazil
作者:
Marilia Pyles Patto Kanegae
a
;
Lucila Akune Barreiros
a
;
Juliana Themudo Lessa Mazzucchelli
b
;
Sonia Marchezi Hadachi
c
;
Laura Maria de Figueiredo Ferreira Guilhoto
c
;
Ana Lú
;
cia Acquesta
d
;
Isabel Rugue Genov
b
;
e
;
Silvia Maia Holanda
f
;
Regina Sumiko Watanabe Di Gesu
g
;
Ana Lucia Goulart
b
;
Amé
;
lia Miyashiro Nunes dos Santos
b
;
Newton Bellesi
h
;
Beatriz Tavares Costa-Carvalho
b
;
Antonio Condino-Neto
a
;
condino@icb.usp.br" class="auth_mail" title="E-mail the corresponding author
关键词:
SCID
;
Neonatal screening
;
TRECs
;
T lymphocytes
;
Combined
immunodeficiency
;
Primary
immunodeficiency
刊名:Jornal de Pediatria
出版年:2016
3.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
作者:
Machteld M. Oud
1
;
26
;
machteld.oud@radboudumc.nl
;
Paul Tuijnenburg
2
;
3
;
26
;
Maja Hempel
4
;
26
;
Naomi van Vlies
5
;
Zemin Ren
6
;
Sacha Ferdinandusse
5
;
Machiel H. Jansen
2
;
3
;
René
;
Santer
7
;
Jessika Johannsen
7
;
Chiara Bacchelli
8
;
Marielle Alders
9
;
Rui Li
10
;
11
;
Rosalind Davies
8
;
Lucie Dupuis
12
;
Catherine M. Cale
13
;
Ronald J.A. Wanders
5
;
Steven T. Pals
6
;
Louise Ocaka
8
;
Chela James
8
;
Ingo Mü
;
ller
14
;
Kai Lehmberg
14
;
Tim Strom
15
;
16
;
Hartmut Engels
17
;
Hywel J. Williams
8
;
Phil Beales
8
;
Ronald Roepman
1
;
Patricia Dias
18
;
Han G. Brunner
1
;
Jan-Maarten Cobben
19
;
20
;
Christine Hall
21
;
Taila Hartley
22
;
Polona Le Quesne Stabej
8
;
Roberto Mendoza-Londono
12
;
E. Graham Davies
8
;
13
;
Sé
;
rgio B. de Sousa
8
;
23
;
24
;
Davor Lessel
4
;
27
;
Heleen H. Arts
1
;
25
;
27
;
Taco W. Kuijpers
2
;
27
;
t.w.kuijpers@amc.uva.nl
关键词:
exostosin
;
EXTL3
;
T cell SCID
;
heparan sulfate
;
neuro-immuno-skeletal dysplasia
刊名:The American Journal of Human Genetics
出版年:2017
4.
Neonatal screening for severe
combined
immunodeficiency
in Brazil
作者:
Marilia Pyles Patto Kanegae
a
;
Lucila Akune Barreiros
a
;
Juliana Themudo Lessa Mazzucchelli
b
;
Sonia Marchezi Hadachi
c
;
Laura Maria de Figueiredo Ferreira Guilhoto
c
;
Ana Lú
;
cia Acquesta
d
;
Isabel Rugue Genov
b
;
e
;
Silvia Maia Holanda
f
;
Regina Sumiko Watanabe Di Gesu
g
;
Ana Lucia Goulart
b
;
Amé
;
lia Miyashiro Nunes dos Santos
b
;
Newton Bellesi
h
;
Beatriz Tavares Costa‐Carvalho
b
;
Antonio Condino‐Neto
a
;
condino@icb.usp.br" class="auth_mail" title="E-mail the corresponding author
关键词:
SCID
;
Neonatal screening
;
TRECs
;
T lymphocytes
;
Combined
immunodeficiency
;
Primary
immunodeficiency
刊名:Jornal de Pediatria (Versão em Português)
出版年:2016
5.
Rapid molecular diagnostics of severe primary
immunodeficiency
determined by using targeted next-generation sequencing
作者:
Hui Yu
;
PhD
a
;
&lowast
;
;
Victor Wei Zhang
;
MD
;
PhD
b
;
&lowast
;
;
Asbjø
;
rg Stray-Pedersen
;
MD
;
PhD
c
;
d
;
e
;
f
;
Imelda Celine Hanson
;
MD
c
;
d
;
Lisa R. Forbes
;
MD
c
;
d
;
M. Teresa de la Morena
;
MD
g
;
Ivan K. Chinn
;
MD
c
;
d
;
Elizabeth Gorman
;
PhD
a
;
Nancy J. Mendelsohn
;
MD
h
;
Tamara Pozos
;
MD
;
PhD
i
;
Wojciech Wiszniewski
;
MD
;
PhD
e
;
Sarah K. Nicholas
;
MD
c
;
d
;
Anne B. Yates
;
MD
j
;
Lindsey E. Moore
;
DO
j
;
Knut Erik Berge
;
MD
;
PhD
k
;
Hanne Sorte
;
MS
k
;
Diana K. Bayer
;
DO
l
;
Daifulah ALZahrani
;
MD
m
;
Raif S. Geha
;
MD
n
;
Yanming Feng
;
PhD
a
;
Guoli Wang
;
PhD
a
;
Jordan S. Orange
;
MD
;
PhD
c
;
d
;
James R. Lupski
;
MD
;
PhD
;
DSc (hon)
b
;
e
;
o
;
Jing Wang
;
MD
b
;
Lee-Jun Wong
;
PhD
b
;
ljwong@bcm.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Severe
combined
immunodeficiency
;
severe
combined
immunodeficiency
newborn screening
;
next-generation sequencing
;
molecular diagnostics
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
6.
Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe
Combined
Immune Deficiency in Washington State
作者:
Yao Ding
;
PhD
1
;
John D. Thompson
;
PhD
2
;
Lisa Kobrynski
;
MD
3
;
Jelili Ojodu
;
MPH
1
;
Guisou Zarbalian
;
MPH
1
;
Scott D. Grosse
;
PhD
4
;
sgrosse@cdc.gov" class="auth_mail" title="E-mail the corresponding author
关键词:
ADA
;
Adenosine deaminase
;
ADA-SCID
;
ADA deficient SCID
;
CBA
;
Cost-benefit analysis
;
CEA
;
Cost-effectiveness analysis
;
DBS
;
Dried blood spot
;
ERT
;
Enzyme replacement therapy
;
HCT
;
Hematopoietic cell transplantation
;
ICER
;
Incremental cost-effectiveness ratio
;
NBS
;
Newborn screening
;
PEG-ADA
;
Polyethylene glycol-modified bovine ADA
;
QALY
;
Quality-adjusted life-year
;
SCID
;
Severe
combined
immunodeficiency
;
TCL
;
T-cell lymphopenia
;
TREC
;
T-cell receptor excision circle
;
VSL
;
Value of a statistical l
刊名:The Journal of Pediatrics
出版年:2016
7.
Combined
immunodeficiency
due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1
作者:
Yousef R. Badran
a
;
c
;
Michel J. Massaad
a
;
c
;
Wayne Bainter
a
;
c
;
Brittney Cangemi
a
;
c
;
Shafiq Ur Rehman Naseem
b
;
Hashim Javad
b
;
Salem Al-Tamemi
b
;
1
;
Raif S. Geha
a
;
c
;
1
;
raif.geha@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
;
Janet Chou
a
;
c
;
1
关键词:
ER
;
endoplasmic reticulum
;
STIM1
;
stromal interaction molecule 1
;
CRAC channel
;
calcium release-activated calcium channel
;
SOCE
;
store-operated calcium entry
;
SCID
;
severe
combined
immunodeficiency
;
PHA
;
phytohemagglutinin
;
WES
;
whole exome sequencing
刊名:Clinical Immunology
出版年:2016
8.
Combined
first-trimester Down syndrome screening in HIV-infected women
作者:
Imè
;
ne Chougrani
a
;
Franç
;
oise Muller
b
;
Louis Marcelin
c
;
Vassilis Tsatsaris
c
;
Judith Abric
c
;
Dominique Luton
a
;
Jean Guibourdenche
d
;
Elie Azria
e
;
f
;
eazria@hpsj.fr" class="auth_mail" title="E-mail the corresponding author
关键词:
Down syndrome
;
First-trimester
combined
screening
;
Human
immunodeficiency
virus
刊名:European Journal of Obstetrics & Gynecology and Reproductive Biology
出版年:2016
9.
Cytomegalovirus Meningitis in an Infant with Severe
Combined
Immunodeficiency
作者:
Claudia P. Vicetti Miguel
;
MD
1
;
claudia.vicettimiguel@nationwidechildrens.org" class="auth_mail" title="E-mail the corresponding author
;
Asuncion Mejias
;
MD
;
PhD
1
;
Octavio Ramilo
;
MD
1
;
Monica I. Ardura
;
DO
1
;
Pablo J. Sá
;
nchez
;
MD
1
;
2
关键词:
Hematopoietic stem cell transplant
刊名:The Journal of Pediatrics
出版年:2016
10.
Hypomorphic function and somatic reversion of DOCK8 cause
combined
immunodeficiency
without hyper-IgE
作者:
Anne-Kathrin Kienzler
a
;
b
;
anne-kathrin.kienzler@ndm.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Pauline A. van Schouwenburg
a
;
b
;
John Taylor
c
;
Ishita Marwah
a
;
b
;
Richa U. Sharma
a
;
b
;
Charlotte Noakes
c
;
Kate Thomson
c
;
Ross Sadler
d
;
Shelley Segal
e
;
Berne Ferry
d
;
Jenny C. Taylor
f
;
Edward Blair
g
;
Helen Chapel
a
;
b
;
Smita Y. Patel
a
;
b
关键词:
CFSE
;
Carboxyfluorescein diacetate
;
succinimidyl ester
;
DHR1/2
;
DOCK homology region
;
DOCK8
;
Dedicator of cytokinesis 8
;
EBV
;
Epstein&ndash
;
Barr-Virus
;
HC
;
Healthy control
;
Mut
;
Mutated DOCK8 transcript (referring to c.6019dupT)
;
PBMC
;
Peripheral blood mononuclear cell
;
PHA
;
Phytohemagglutinin
;
Pt
;
Patient
;
Trunc
;
Truncated DOCK8 protein
刊名:Clinical Immunology
出版年:2016
1
2
3
4
5
6
7
8
9
按检索点细分(1151)
题名(266)
关键词(227)
文摘(775)
按出版年细分(1151)
2027年及以后(63)
2017年(2)
2016年(66)
2015年(16)
2014年(1)
2013年(75)
2012年(66)
2011年(57)
2010年(61)
2009年(67)
2008年(35)
2007年(46)
2006年(44)
2005年(45)
2004年(61)
2003年(55)
2002年(42)
2001年(31)
2000年(56)
2000年及以前(262)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.