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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(17)
NATURE电子期刊(2)
Elsevier电子期刊(27)
在“
SpringerLink电子期刊
”中,
命中:
17
条,耗时:小于0.01 秒
在所有数据库中总计命中:
47
条
1.
Brief Report: Sensory Reactivity in Children with Phelan–McDermid
Syndrome
作者:
A. M. Mieses
;
T. Tavassoli
;
E. Li
;
L. Soorya…
刊名:Journal of Autism and Developmental Disorders
出版年:2016
2.
Phelan–McDermid
Syndrome
and SHANK3: Implications for Treatment
作者:
Jesse L. Costales
;
Alexander Kolevzon
关键词:
Phelan
;
McDermid
syndrome
;
22q13
deletion
syndrome
;
SHANK3
;
Autism
;
Autism spectrum disorder
;
Neurodevelopmental disorders
刊名:Neurotherapeutics
出版年:2015
3.
Developmental profiling of ASD-related
shank3
transcripts and their differential regulation by valproic acid in zebrafish
作者:
Chun-xue Liu
;
Xiao-lan Peng
;
Chun-chun Hu
;
Chun-yang Li…
关键词:
Autism spectrum disorder
;
Zebrafish
;
Valproic acid
;
shank3
;
Transcript
;
Developmental expression
;
ANK and SAM domains
刊名:Development Genes and Evolution
出版年:2016
4.
Autism spectrum disorder in Phelan-McDermid
syndrome
: initial characterization and genotype-phenotype correlations
作者:
Lindsay M. Oberman
;
Luigi Boccuto
;
Lauren Cascio…
关键词:
Phelan
;
McDermid
Syndrome
;
Autism Spectrum Disorder
;
SHANK3
;
22q13
刊名:Orphanet Journal of Rare Diseases
出版年:2015
5.
Case report: an unexpected link between partial
deletion
of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder
作者:
Anne Philippe
;
Yann Craus
;
Marlène Rio
;
Nadia Bahi-Buisson…
关键词:
SHANK3
;
22q13
.3
deletion
syndrome
;
Autism
;
ASD
;
Childhood disintegrative disorder (CDD)
;
Heller
syndrome
;
Regression
刊名:BMC Psychiatry
出版年:2015
6.
Phelan-McDermid
syndrome
: a review of the literature and practice parameters for medical assessment and monitoring
作者:
Alexander Kolevzon (1) (10) (11) (2) (3)
Benjamin Angarita (1) (2)
Lauren Bush (1) (2)
A Ting Wang (1) (10) (2) (4)
Yitzchak Frank (1) (2) (3) (5)
Amy Yang (6)
Robert Rapaport (3) (7)
Jeffrey Saland (3)
Shubhika Srivastava (3) (8)
Cristina Farrell (1) (3) (9)
Lisa J Edelmann (6)
Joseph D Buxbaum (1) (10) (11) (2) (4) (6)
1. Seaver Autism Center for Research and Treatment
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
10. Friedman Brain Institute
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
11. Mindich Child Health and Development Institute
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
2. Department of Psychiatry
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
3. Department of Pediatrics
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
4. Department of Neuroscience
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
5. Department of Neurology
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
6. Department of Genetics and Genomic Sciences
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
7. Division of Endocrinology and Diabetes
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
8. Department of Cardiology
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
9. Division of Behavioral Pediatrics
;
Icahn School of Medicine at Mount Sinai
;
One Gustave L. Levy Place
;
New York
;
NY
;
10029
;
USA
关键词:
Phelan
;
McDermid
syndrome
;
22q13
deletion
syndrome
;
SHANK3
;
Autism
;
Autism spectrum disorder
;
Neurodevelopmental disorders
;
Practice parameters
刊名:Journal of Neurodevelopmental Disorders
出版年:2014
7.
Prospective investigation of autism and genotype-phenotype correlations in
22q13
deletion
syndrome
and SHANK3 deficiency
作者:
Latha Soorya (1) (13) (2)
Alexander Kolevzon (1) (2) (3)
Jessica Zweifach (1)
Teresa Lim (2)
Yuriy Dobry (2)
Lily Schwartz (1)
Yitzchak Frank (1) (2) (3) (4)
A Ting Wang (1) (2) (5)
Guiqing Cai (1) (2) (6)
Elena Parkhomenko (1) (2)
Danielle Halpern (1) (2)
David Grodberg (1) (2)
Benjamin Angarita (2)
Judith P Willner (3) (6)
Amy Yang (3) (6)
Roberto Canitano (1) (14)
William Chaplin (8)
Catalina Betancur (10) (11) (9)
Joseph D Buxbaum (1) (12) (2) (5) (6) (7)
关键词:
22q13
deletion
syndrome
;
Autism
;
Microarrays
;
Mutation
;
Phelan
;
McDermid
syndrome
;
SHANK3
刊名:Molecular Autism
出版年:2013
8.
Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports
作者:
Sylvie Serret
;
Susanne Thümmler
;
Emmanuelle Dor
;
Stephanie Vesperini…
关键词:
Autism
;
SHANK3 gene
;
Lithium
;
Regression
;
Catatonia
刊名:BMC Psychiatry
出版年:2015
9.
Clinical and genomic evaluation of 201 patients with Phelan–McDermid
syndrome
作者:
Sara M. Sarasua (1)
Luigi Boccuto (1)
Julia L. Sharp (2)
Alka Dwivedi (1)
Chin-Fu Chen (1)
Jonathan D. Rollins (1)
R. Curtis Rogers (1)
Katy Phelan (3)
Barbara R. DuPont (1)
刊名:Human Genetics
出版年:2014
10.
Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
作者:
Ozlem Bozdagi (1) (2)
Teresa Tavassoli (1) (2)
Joseph D Buxbaum (1) (2) (3) (4) (5) (6)
关键词:
Pharmacotherapy
;
Personalized medicine
;
Individualized medicine
;
22q13
deletion
syndrome
;
Phelan
;
McDermid
syndrome
刊名:Molecular Autism
出版年:2013
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