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CNKI会议论文(1)
CNKI学位论文(350)
CNKI期刊论文0611(2)
知网期刊论文(2628)
在“
SpringerLink电子期刊
”中,
命中:
124
条,耗时:0.1329376 秒
在所有数据库中总计命中:
2,981
条
1.
The association
of
GPR85 with PSD-
9
5-neuroligin complex and autism spectrum disorder: a molecular analysis
作者:
Eriko Fujita-Jimbo (1) (2)
Yuko Tanabe (2)
Zhiling Yu (1) (3)
Karin Kojima (1)
Masato Mori (1)
Hong Li (1) (4)
Sadahiko Iwamoto (5)
Takanori Yamagata (1)
Mariko Y Momoi (1) (2)
Takashi Momoi (2)
1.
Department
of
Pediatrics
;
Jichi Medical University
;
3311-1 Yakushiji
;
Shimotsuke-shi
;
Tochigi
;
32
9
04
9
8
;
Japan
2. Medical Research Center
;
International University
of
Welfare and Health
;
2600-1 Kitakanemaru
;
Ohtawara
;
3248501
;
Japan
3.
Department
of
Pediatrics
;
Shengjing Hospital
of
China Medical University
;
36 Sanhao Street
;
Heping District
;
Shenyang
;
100004
;
Liaoning
;
China
4. Medical Biochemical Genetics
;
Harvard Medical School
;
25 Shattuck Street
;
Boston
;
MA
;
02115
;
USA
5. Division
of
Human Genetics
;
Center for Molecular Medicine
;
Jichi Medical University
;
3311-1 Yakushiji
;
Shimotsuke-shi
;
Tochigi
;
32
9
04
9
8
;
Japan
关键词:
Autism spectrum disorder
;
ASD
;
GPCR
;
ER stress
;
Synaptic receptors
;
GPR85
刊名:Molecular Autism
出版年:2015
2.
The role
of
Sox
9
in mouse mammary gland development and maintenance
of
mammary stem and luminal progenitor cells
作者:
Gautam K Malhotra (1)
Xiangshan Zhao (1)
Emily Edwards (1)
Janel L Kopp (2)
Mayumi Naramura (1) (3)
Maike Sander (2)
Hamid Band (1) (4) (5) (6)
Vimla Band (1) (3)
1.
Department
of
Genetics
;
Cell Biology and Anatomy
;
College
of
Medicine
;
University
of
Nebraska Medical Center
;
9
85805 Nebraska Medical Center
;
Omaha
;
NE
;
681
9
8-5805
;
USA
2.
Department
s
of
Pediatrics
and Cellular and Molecular Medicine
;
University
of
California-San Diego
;
La Jolla
;
CA
;
9
20
9
3-06
9
5
;
USA
3. Eppley Institute for Research in Cancer and Allied Diseases
;
and Fred & Pamela Buffett Cancer Center
;
University
of
Nebraska Medical Center
;
9
85
9
50 Nebraska Medical Center
;
Omaha
;
NE
;
681
9
8-5
9
50
;
USA
4.
Department
s
of
Biochemistry & Molecular Biology
;
College
of
Medicine
;
University
of
Nebraska Medical Center
;
9
85805 Nebraska Medical Center
;
Omaha
;
NE
;
681
9
8-5805
;
USA
5.
Department
s
of
Pathology & Microbiology and Pharmacology and Neuroscience
;
College
of
Medicine
;
University
of
Nebraska Medical Center
;
9
85805 Nebraska Medical Center
;
Omaha
;
NE
;
681
9
8-5805
;
USA
6.
Department
s
of
Pharmacology and Neuroscience
;
College
of
Medicine
;
University
of
Nebraska Medical Center
;
9
85805 Nebraska Medical Center
;
Omaha
;
NE
;
681
9
8-5805
;
USA
关键词:
SOX
9
;
Stem cells
;
Luminal progenitor cells
;
Mammary gland development
;
Cre
;
lox
;
Knockout
刊名:BMC Developmental Biology
出版年:2014
3.
Identification
of
Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders
作者:
David Buchbinder (1) (12)
Rebecca Baker (2)
Yu Nee Lee (3)
Juan Ravell (2)
Yu Zhang (4)
Joshua McElwee (5)
Diane Nugent (1)
Emily M. Coonrod (7)
Jacob D. Durtschi (7)
Nancy H. Augustine (7) (8)
Karl V. Voelkerding (7) (8)
Krisztian Csomos (11)
Lindsey Rosen (2)
Sarah Browne (2)
Jolan E. Walter (11) (6)
Luigi D. Notarangelo (6)
Harry R. Hill (10) (7) (8) (
9
)
Attila Kum谩novics (7) (8)
1.
Pediatrics
/ Hematology
;
CHOC Children鈥檚 Hospital鈥擴C Irvine
;
Orange
;
CA
;
USA
12. Division
of
Hematology
;
CHOC Children鈥檚 Hospital
;
1201 La Veta
;
Orange
;
CA
;
9
2868
;
USA
2. Laboratory
of
Clinical Infectious Diseases
;
NIAID
;
NIH
;
Bethesda
;
MD
;
USA
3. Division
of
Immunology
;
Boston Children鈥檚 Hospital Harvard Medical School
;
Boston
;
MA
;
USA
4. Laboratory
of
Host Defenses
;
National Institutes
of
Allergy and Infectious Diseases
;
NIH
;
Bethesda
;
MD
;
USA
5. Merck Research Laboratories
;
Merck & Co. Inc.
;
Boston
;
MA
;
USA
7. ARUP Institute for Clinical and Experimental Pathology
;
Salt Lake City
;
UT
;
USA
8.
Department
of
Pathology
;
University
of
Utah School
of
Medicine
;
Salt Lake City
;
UT
;
USA
11. Pediatric Allergy & Immunology and the Center for Immunology and Inflammatory Diseases
;
Massachusetts General Hospital
;
Harvard Medical School
;
Boston
;
MA
;
USA
6. Division
of
Immunology
;
Boston Children鈥檚 Hospital
;
Boston
;
MA
;
USA
10.
Department
of
Pediatrics
;
University
of
Utah School
of
Medicine
;
Salt Lake City
;
UT
;
USA
9
.
Department
of
Internal Medicine
;
University
of
Utah School
of
Medicine
;
Salt Lake City
;
UT
;
USA
关键词:
RAG1
;
RAG deficiency
;
primary immunodeficiency
;
severe combined immune deficiency
;
common variable immunodeficiency disorder
;
exome sequencing
;
gene panel
刊名:Journal
of
Clinical Immunology
出版年:2015
4.
Medulloblastoma subgroups remain stable across primary and metastatic compartments
作者:
Xin Wang (1) (2)
Adrian M. Dubuc (1) (2)
Vijay Ramaswamy (1) (2) (3)
Stephen Mack (1) (2)
Deena M. A. Gendoo (4)
Marc Remke (1) (2)
Xiaochong Wu (1)
Livia Garzia (1)
Betty Luu (1)
Florence Cavalli (1)
John Peacock (1) (2)
Borja L贸pez (1)
Patryk Skowron (1) (2)
David Zagzag (5)
David Lyden (6)
Caitlin H
of
fman (1) (7)
Yoon-Jae Cho (8)
Charles Eberhart (
9
)
Tobey MacDonald (10)
Xiao-Nan Li (11)
Timothy Van Meter (12)
Paul A. Northcott (13)
Benjamin Haibe-Kains (14) (4)
Cynthia Hawkins (15)
James T. Rutka (7)
Eric Bouffet (3)
Stefan M. Pfister (13)
Andrey Korshunov (16)
Michael D. Taylor (1) (7)
1. Developmental and Stem Cell Biology Program
;
The Hospital for Sick Children
;
University
of
Toronto
;
Toronto
;
ON
;
Canada
2.
Department
of
Laboratory Medicine and Pathobiology
;
University
of
Toronto
;
Toronto
;
ON
;
Canada
3. Division
of
Haematology/Oncology
;
Hospital for Sick Children
;
Toronto
;
ON
;
Canada
4. Bioinformatics and Computational Genomics Laboratory
;
Princess Margaret Cancer Centre
;
University Health Network
;
Toronto
;
ON
;
Canada
5.
Department
s
of
Pathology and Neurosurgery
;
NYU Langone Medical Center
;
New York
;
NY
;
USA
6.
Department
s
of
Pediatrics
;
Cell and Developmental Biology
;
Weill Medical College
of
Cornell University
;
New York
;
NY
;
USA
7. Division
of
Neurosurgery
;
Hospital for Sick Children
;
555 University Ave
;
Ste 1503
;
Toronto
;
ON
;
M5C 1X8
;
Canada
8.
Department
of
Neurology and Neurological Sciences
;
Stanford University School
of
Medicine
;
Stanford
;
CA
;
USA
9
.
Department
s
of
Pathology
;
Ophthalmology and Oncology
;
John Hopkins University School
of
Medicine
;
Baltimore
;
MD
;
USA
10. Pediatric Neuro-Oncology Program
;
Emory University School
of
Medicine
;
Atlanta
;
GA
;
USA
11.
Department
of
Pediatrics
;
Brain Tumor Program
;
Children鈥檚 Cancer Center
;
Baylor College
of
Medicine
;
Houston
;
TX
;
USA
12.
Department
of
Pediatrics
;
Virginia Commonwealth University School
of
Medicine
;
Richmond
;
VA
;
USA
13. Division
of
Pediatric Neurooncology
;
Department
of
Pediatric Hematology and Oncology
;
German Cancer Consortium (DKTK)
;
German Cancer Research Center (DKFZ)
;
Heidelberg University Hospital
;
Heidelberg
;
Germany
14.
Department
of
Medical Biophysics
;
University
of
Toronto
;
Toronto
;
ON
;
Canada
15.
Department
of
Pathology
;
Hospital for Sick Children
;
Toronto
;
ON
;
Canada
16. Clinical Cooperation Unit Neuropathology
;
German Cancer Research Center (DKFZ)
;
Heidelberg
;
Germany
关键词:
Medulloblastoma
;
Metastasis
;
Molecular subgroups
;
Integrative genomics
;
Gene expression
;
DNA methylation
刊名:Acta Neuropathologica
出版年:2015
5.
Antipurinergic therapy corrects the autism-like features in the Fragile X (Fmr1 knockout) mouse model
作者:
Jane C Naviaux (5)
Lin Wang (1) (2)
Kefeng Li (1) (2)
A Taylor Bright (1) (2)
William A Alaynick (1) (2)
Kenneth R Williams (1) (2) (8)
S
usa
n B Powell (5) (6)
Robert K Naviaux (1) (2) (3) (4) (7)
5.
Department
of
Psychiatry
;
University
of
California
;
San Diego School
of
Medicine
;
214 Dickinson St.
;
Bldg CTF
;
Rm C102
;
San Diego
;
CA
;
9
2103-8467
;
USA
1. The Mitochondrial and Metabolic Disease Center
;
University
of
California
;
San Diego School
of
Medicine
;
214 Dickinson St.
;
Bldg CTF
;
Rm C102
;
San Diego
;
CA
;
9
2103-8467
;
USA
2.
Department
of
Medicine
;
University
of
California
;
San Diego School
of
Medicine
;
214 Dickinson St.
;
Bldg CTF
;
Rm C102
;
San Diego
;
CA
;
9
2103-8467
;
USA
8. General Atomics
;
Inc
;
San Diego
;
CA
;
USA
6. Research Service
;
VA San Diego Healthcare System
;
La Jolla
;
CA
;
USA
3.
Department
of
Pediatrics
;
University
of
California
;
San Diego School
of
Medicine
;
214 Dickinson St.
;
Bldg CTF
;
Rm C102
;
San Diego
;
CA
;
9
2103-8467
;
USA
4.
Department
of
Pathology
;
University
of
California
;
San Diego School
of
Medicine
;
214 Dickinson St.
;
Bldg CTF
;
Rm C102
;
San Diego
;
CA
;
9
2103-8467
;
USA
7. Veterans Affairs Center for Excellence in Stress and Mental Health (CESAMH)
;
La Jolla
;
CA
;
USA
关键词:
Autism spectrum disorders
;
Purinergic signaling
;
Antipurinergic therapy (APT)
;
Mitochondria
;
Metabolism
;
Metabolomics
;
Fragile X syndrome
;
Genetics
;
Environment
;
Maternal immune activation (MIA)
;
Cell danger response (CDR)
刊名:Molecular Autism
出版年:2015
6.
Prospective validation
of
pediatric disease severity scores to predict mortality in Ugandan children presenting with malaria and non-malaria febrile illness
作者:
Andrea L Conroy (1) (2)
Michael Hawkes (3)
Kyla Hayford (1) (2)
Sophie Namasopo (4)
Robert O Opoka (5)
Chandy C John (6)
W Conrad Liles (7)
Kevin C Kain (1) (2) (8) (
9
)
1. Depatment
of
Medicine
;
University
of
Toronto
;
Toronto
;
M5S1A8
;
Canada
2. Sandra A. Rotman Laboratories
;
Sandra Rotman Centre for Global Health
;
University Health Network-Toronto General Hospital
;
University
of
Toronto
;
Toronto
;
M5G1L7
;
Canada
3. Division
of
Pediatric Infectious Diseases
;
University
of
Alberta
;
Edmonton
;
T6G1C
9
;
Canada
4.
Department
of
Pediatrics
;
Jinja Regional Referral Hospital
;
P.O. Box 43
;
Jinja
;
Uganda
5.
Department
of
Paediatrics and Child Health
;
Mulago Hospital and Makerere University
;
P.O. Box 7051
;
Kampala
;
Uganda
6. Division
of
Global
Pediatrics
;
Department
of
Pediatrics
;
University
of
Minnesota
;
Minneapolis
;
MN
;
55414
;
USA
7.
Department
of
Medicine
;
University
of
Washington
;
Seattle
;
WA
;
9
81
9
5
;
USA
8. Tropical Disease Unit
;
Division
of
Infectious Diseases
;
Department
of
Medicine
;
University
of
Toronto
;
Toronto
;
Canada
9
. Sandra Rotman Centre
;
Suite 10鈥?51
;
Toronto Medical Discovery Tower
;
MaRS Centre
;
101 College Street
;
Toronto
;
M5G1L7
;
Canada
刊名:Critical Care
出版年:2015
7.
The daily dynamics
of
cystic fibrosis airway microbiota during clinical stability and at exacerbation
作者:
Lisa A Carmody (1)
Jiangchao Zhao (1)
Linda M Kalikin (1)
William LeBar (2)
Richard H Simon (3)
Arvind Venkataraman (4)
Thomas M Schmidt (4)
Zaid Abdo (5)
Patrick D Schloss (4)
John J LiPuma (1)
1.
Department
of
Pediatrics
and Communicable Diseases
;
University
of
Michigan Medical School
;
Ann Arbor
;
MI
;
4810
9
;
USA
2.
Department
of
Pathology
;
University
of
Michigan Medical School
;
Ann Arbor
;
MI
;
4810
9
;
USA
3.
Department
of
Internal Medicine
;
University
of
Michigan Medical School
;
Ann Arbor
;
MI
;
4810
9
;
USA
4.
Department
of
Microbiology and Immunology
;
University
of
Michigan Medical School
;
Ann Arbor
;
MI
;
4810
9
;
USA
5. USDA-ARS
;
South Atlantic Area
;
Athens
;
GA
;
USA
关键词:
Cystic fibrosis
;
Respiratory exacerbation
;
Lung microbiome
;
Airway microbiome
刊名:Microbiome
出版年:2015
8.
High rate
of
concurrent BRAF-KIAA154
9
gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN)
作者:
Fausto J. Rodriguez (1)
Matthew J. Schniederjan (2) (5)
Theo Nicolaides (3)
Tarik Tihan (4)
Peter C. Burger (1)
Arie Perry (4)
1. Division
of
Neuropathology
;
Department
of
Pathology
;
Johns Hopkins Hospital
;
Johns Hopkins University
;
Sheikh Zayed Tower
;
Room M2101
;
1800 Orleans Street
;
Baltimore
;
MD
;
21231
;
USA
2.
Department
of
Pathology and Laboratory Administration
;
Children鈥檚 Healthcare
of
Atlanta
;
1001 Johnson Ferry Rd NE
;
Atlanta
;
GA
;
30342
;
USA
5.
Department
of
Pathology and Laboratory Medicine
;
Emory University School
of
Medicine
;
Room G170
;
1364 Clifton Rd NE
;
Atlanta
;
GA
;
30322
;
USA
3.
Department
of
Pediatrics
;
University
of
California San Francisco School
of
Medicine
;
550 16th Street
;
San Francisco
;
CA
;
9
4143
;
USA
4. Division
of
Neuropathology
;
Department
of
Pathology
;
University
of
California San Francisco School
of
Medicine
;
505 Parnassus Avenue
;
San Francisco
;
CA
;
9
4143
;
USA
刊名:Acta Neuropathologica
出版年:2015
9.
Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide
作者:
Roger V Lebo (1) (2)
Vijay S Tonk (3) (4)
1.
Department
of
Pathology and Laboratory Medicine
;
Akron Children鈥檚 Hospital
;
One Perkins Square
;
Akron
;
OH
;
44308-1062
;
USA
2. Northeast Ohio Medical University
;
Rootstown
;
OH
;
USA
3.
Department
of
Pediatrics
;
Texas Tech University Health Science Center
;
4th Street 3601
;
Lubbock
;
TX
;
7
9
416
;
USA
4. Texas Tech University Health Sciences Center
;
El Paso
;
TX
;
USA
关键词:
Most frequent diseases
;
Targeted patient categories
;
Disease identification
;
Test accuracy
刊名:Journal
of
Translational Medicine
出版年:2015
10.
RAG1 Deficiency May Present Clinically as Selective IgA Deficiency
作者:
Tamaki Kato (1)
Elena Crestani (2)
Chikako Kamae (1)
Kenichi Honma (1)
Tomoko Yokosuka (3)
Takeshi Ikegawa (4)
Naonori Nishida (5)
Hirokazu Kanegane (5) (6)
Taizo Wada (7)
Akihiro Yachie (7)
Osamu Ohara (8) (
9
)
Tomohiro Morio (6)
Luigi D. Notarangelo (2)
Kohsuke Imai (1) (6)
Shigeaki Nonoyama (1)
1.
Department
of
Pediatrics
;
National Defense Medical College
;
Tokorozawa
;
Saitama
;
Japan
2. Division
of
Immunology
;
Children鈥檚 Hospital Boston
;
Harvard Medical School
;
Boston
;
MA
;
USA
3.
Department
of
Hemato-oncology/Regeneration Medicine
;
Kanagawa Children鈥檚 Medical Center
;
Yokohama
;
Kanagawa
;
Japan
4.
Department
of
Pediatrics
;
Yokohama Rosai Hospital
;
Yokohama
;
Kanagawa
;
Japan
5.
Department
of
Pediatrics
;
University
of
Toyama
;
Toyama
;
Japan
6.
Department
of
Pediatrics
;
Tokyo Medical and Dental University (TMDU)
;
1-5-45
;
Yushima
;
Bunkyo-ku
;
Tokyo
;
113-851
9
;
Japan
7.
Department
of
Pediatrics
;
Kanazawa University
;
Kanazawa
;
Ishikawa
;
Japan
8. Laboratory for Integrative Genomics
;
RIKEN Center for Integrative Medical Sciences
;
Yokohama
;
Kanagawa
;
Japan
9
.
Department
of
Technology Development
;
Kaz
usa
DNA Research Institute
;
Kisarazu
;
Chiba
;
Japan
关键词:
RAG1 deficiency
;
IgA deficiency
;
TRECs
;
KRECs
;
primary immunodeficiency
;
V(D)J recombination
刊名:Journal
of
Clinical Immunology
出版年:2015
1
2
3
4
5
6
7
8
9
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