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。Monosomy 21q: two cases of del(21q) and review of the literature
J.-L. Huret et al.
CLINICAL GENETICS (2010)
Detailed molecular and clinical characterization of three patients with 21q deletions
A. Lindstrand et al.
CLINICAL GENETICS (2010)
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
Robert Lyle et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay
Keiko Shimojima et al.
GENOMICS (2009)
Molecular genetic analysis of Down syndrome
David Patterson
HUMAN GENETICS (2009)
Down syndrome-recent progress and future prospects
Frances K. Wiseman et al.
HUMAN MOLECULAR GENETICS (2009)
DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome
Aude-Marie Lepagnol-Bestel et al.
HUMAN MOLECULAR GENETICS (2009)
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
Jan O. Korbel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
Claudia Canzonetta et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Rikke S. Moller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q
Marwan Shinawi et al.
BLOOD (2008)
Down syndrome and the genes of human chromosome 21: current knowledge and future potentials
M. Pritchard et al.
CYTOGENETIC AND GENOME RESEARCH (2008)
Clinical phenotype of germline RUNX1 haploinsufficiency:: from point mutations to large genomic deletions
Mylene Beri-Dexheimer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Behavioral characterization of mice lacking GIRK/Kir3 channel subunits
M. Pravetoni et al.
GENES BRAIN AND BEHAVIOR (2008)
Altered heart rate control in transgenic mice carrying the KCNJ6 gene of the human chromosome 21
Jacques M. Lignon et al.
PHYSIOLOGICAL GENOMICS (2008)
Synaptic and cognitive abnormalities in mouse models of down syndrome: Exploring genotype-phenotype relationships
Pavel V. Belichenko et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Juliane Hoyer et al.
JOURNAL OF MEDICAL GENETICS (2007)
Dopaminergic deficiency in mice with reduced levels of the dual-specificity tyrosine-phosphorylated and regulated kinase 1A, Dyrk1A+/-
M. Martinez de lagran et al.
GENES BRAIN AND BEHAVIOR (2007)
Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice
Lisa E. Olson et al.
HUMAN MOLECULAR GENETICS (2007)
Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome
Wieslaw K. Dowjat et al.
NEUROSCIENCE LETTERS (2007)
Using mouse modets to explore genotype-phenotyperelationship in Down syndrome
Ahmad Salehi et al.
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2007)
DYRKIA BAC transgenic mice show altered synaptic plasticity with learning and memory defects
Kyoung-Jin Ahn et al.
NEUROBIOLOGY OF DISEASE (2006)
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
Joseph R. Arron et al.
NATURE (2006)
Deletion of chromosome 21 disturbs human brain morphogenesis
GM Yao et al.
GENETICS IN MEDICINE (2006)
Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse
R Benavides-Piccione et al.
NEUROBIOLOGY OF DISEASE (2005)
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome
K Amano et al.
HUMAN MOLECULAR GENETICS (2004)
A chromosome 21 critical region does not cause specific down syndrome phenotypes
LE Olson et al.
SCIENCE (2004)
Transgenic mouse in vivo library of human down syndrome critical region 1:: Association between DYRK1A overexpression, brain development abnormalities, and cell cycle protein alteration
I Branchi et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2004)
Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome:: Effects of environmental enrichment
M Dierssen et al.
CEREBRAL CORTEX (2003)
De novo 9-break-event in one chromosome 21 combined with a microdeletion in 21q22.11 in a mentally retarded boy with short stature
A Weise et al.
CYTOGENETIC AND GENOME RESEARCH (2003)
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
V Fotaki et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
X Altafaj et al.
HUMAN MOLECULAR GENETICS (2001)