相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism
David M. Young et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Abnormal Behavior in a Chromosome-Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism
Jin Nakatani et al.
CELL (2009)
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
Yong-hui Jiang et al.
BMC GENOMICS (2008)
Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits
Matthias Groszer et al.
CURRENT BIOLOGY (2008)
Gender influences monoallelic expression of ATP10A in human brain
Amber Hogart et al.
HUMAN GENETICS (2008)
Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors
Detlef H. Heck et al.
HUMAN MOLECULAR GENETICS (2008)
Behavioral phenotyping strategies for mutant mice
Jacqueline N. Crawley
NEURON (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Unusual Repertoire of Vocalizations in the BTBR T plus tf/J Mouse Model of Autism
Maria Luisa Scattoni et al.
PLOS ONE (2008)
Ultrasonic vocalization impairment of Foxp2 (R552H) knockin mice related to speech-language disorder and abnormality of Purkinje cells
Eriko Fujita et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
Scott V. Dindot et al.
HUMAN MOLECULAR GENETICS (2008)
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
Weimin Bi et al.
HUMAN MOLECULAR GENETICS (2007)
Genomic rearrangements and sporadic disease
James R. Lupski
NATURE GENETICS (2007)
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
Pawel Stankiewicz et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2007)
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
Chris Oliver et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2007)
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
Amber Hogart et al.
HUMAN MOLECULAR GENETICS (2007)
A type IVP-type ATPase affects insulin-mediated glucose uptake in adipose tissue and skeletal muscle in mice
Madhu S. Dhar et al.
JOURNAL OF NUTRITIONAL BIOCHEMISTRY (2006)
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)
Katherina Walz et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
Jennifer A. Lee et al.
NEURON (2006)
An altered neonatal behavioral phenotype in Mecp2 mutant mice
JD Picker et al.
NEUROREPORT (2006)
The use of behavioral test batteries, II: Effect of test interval
R Paylor et al.
PHYSIOLOGY & BEHAVIOR (2006)
Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review
MWM Veltman et al.
PSYCHIATRIC GENETICS (2005)
Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene
WG Shu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
GABAA receptor β3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in β3 subunit levels, EEG, and behavior
P Liljelund et al.
DEVELOPMENTAL BRAIN RESEARCH (2005)
A review of the methods of studies on infant ultrasound production and maternal retrieval in small rodents
ME Hahn et al.
BEHAVIOR GENETICS (2005)
Autism in Angelman syndrome: implications for autism research
SU Peters et al.
CLINICAL GENETICS (2004)
Deficit in attachment behavior in mice lacking the μ-opioid receptor gene
A Moles et al.
SCIENCE (2004)
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons
JH Chai et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Two new balancer chromosomes on mouse chromosome 4 to facilitate functional annotation of human chromosome 1p
I Nishijima et al.
GENESIS (2003)
Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting
T Kayashima et al.
GENOMICS (2003)
Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: Phenotypic consequences of gene dosage imbalance
K Walz et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Angelman syndrome: a review of the clinical and genetic aspects
J Clayton-Smith et al.
JOURNAL OF MEDICAL GENETICS (2003)
Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb
A Kashiwagi et al.
JOURNAL OF HUMAN GENETICS (2003)
On the conflicting reports of imprinting status of mouse ATP10a in the adult brain: strain-background-dependent imprinting?
T Kayashima et al.
JOURNAL OF HUMAN GENETICS (2003)
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
MD Shahbazian et al.
NEURON (2002)
The effects of cold, rotation, and genotype on the production of ultrasonic calls in infant mice
ME Hahn et al.
BEHAVIOR GENETICS (2002)
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
K Miura et al.
NEUROBIOLOGY OF DISEASE (2002)
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
AC Lossie et al.
JOURNAL OF MEDICAL GENETICS (2001)
Ultrasonic vocalisation emitted by infant rodents: a tool for assessment of neurobehavioural development
I Branchi et al.
BEHAVIOURAL BRAIN RESEARCH (2001)
A forkhead-domain gene is mutated in a severe speech and language disorder
CSL Lai et al.
NATURE (2001)
Engineering chromosomal rearrangements in mice
YJ Yu et al.
NATURE REVIEWS GENETICS (2001)
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
LBK Herzing et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome
M Meguro et al.
NATURE GENETICS (2001)
Engineering mouse chromosomes with Cre-loxP: Range, efficiency, and somatic applications
BH Zheng et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)