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。Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
Jeffrey L. Neul et al.
ANNALS OF NEUROLOGY (2010)
Early Environmental Enrichment Moderates the Behavioral and Synaptic Phenotype of MeCP2 Null Mice
Giuseppina Lonetti et al.
BIOLOGICAL PSYCHIATRY (2010)
Rett syndrome: random X chromosome inactivation
Maria Anvret et al.
CLINICAL GENETICS (2010)
Role of primary cilia in brain development and cancer
Young-Goo Han et al.
CURRENT OPINION IN NEUROBIOLOGY (2010)
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M. A. Mencarelli et al.
JOURNAL OF MEDICAL GENETICS (2010)
Rett syndrome and other autism spectrum disorders-brain diseases of immune malfunction?
N. C. Derecki et al.
MOLECULAR PSYCHIATRY (2010)
Associations of CFHR1-CFHR3 deletion and a CFH snp to age-related macular degeneration are not independent
Soumya Raychaudhuri et al.
NATURE GENETICS (2010)
The role of primary cilia in neuronal function
Jeong Ho Lee et al.
NEUROBIOLOGY OF DISEASE (2010)
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
A. Renieri et al.
BRAIN & DEVELOPMENT (2009)
Array comparative genomic hybridization in retinoma and retinoblastoma tissues
Katia Sampieri et al.
CANCER SCIENCE (2009)
Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population
Bao-Yong Sha et al.
JOURNAL OF HUMAN GENETICS (2009)
Copy number variation at 1q21.1 associated with neuroblastoma
Sharon J. Diskin et al.
NATURE (2009)
The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
B. Ben Zeev et al.
NEUROLOGY (2009)
FOXG1 is responsible for the congenital variant of Rett syndrome
Francesca Ariani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus
M. Mamtani et al.
ANNALS OF THE RHEUMATIC DISEASES (2008)
Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome
Nupur Nag et al.
BRAIN RESEARCH (2008)
Copy number variation of beta-defensins and relevance to disease
E. J. Hollox
CYTOGENETIC AND GENOME RESEARCH (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
The p. Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
J. Nectoux et al.
NEUROLOGY (2008)
Tissue expression patterns identify mouse cilia genes
Timothy S. McClintock et al.
PHYSIOLOGICAL GENOMICS (2008)
Deletion polymorphism of the UGT2B17 gene is associated with increased risk for prostate cancer and correlated to gene expression in the prostate
A-H Karypidis et al.
PHARMACOGENOMICS JOURNAL (2008)
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
Mihaly Jozsi et al.
BLOOD (2008)
The classical complement cascade mediates CNS synapse elimination
Beth Stevens et al.
CELL (2007)
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
Dag H. Yasui et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
Elisa Scala et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
Simon A. Hardwick et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Filopodia are required for cortical neurite initiation
Erik W. Dent et al.
NATURE CELL BIOLOGY (2007)
EnaNASP is required for neuritogenesis in the developing cortex
Adam V. Kwiatkowski et al.
NEURON (2007)
Neuropeptide Y receptor selective ligands in the treatment of obesity
M. M. Kamiji et al.
ENDOCRINE REVIEWS (2007)
Syndecan-2 induces filopodia and dendritic spine formation via the neurofibromin-PKA-Ena/VASP pathway
Yi-Ling Lin et al.
JOURNAL OF CELL BIOLOGY (2007)
BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
Bernd Frank et al.
BMC CANCER (2007)
Italian Rett database and biobank
Katia Sampieri et al.
HUMAN MUTATION (2007)
Correlation between clinical severity in patients with Rett Syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
Hayley Archer et al.
JOURNAL OF MEDICAL GENETICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
Anne E. Hughes et al.
NATURE GENETICS (2006)
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters
J. C. Evans et al.
CLINICAL GENETICS (2006)
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
Giuseppe Merla et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
TJ Aitman et al.
NATURE (2006)
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon
Klaus Fellermann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Abelson, enabled, and P120catenin exert distinct effects on dendritic morphogenesis in Drosophila
WJ Li et al.
DEVELOPMENTAL DYNAMICS (2005)
Neuropathology of Rett syndrome
DD Armstrong
JOURNAL OF CHILD NEUROLOGY (2005)
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
F Mari et al.
HUMAN MOLECULAR GENETICS (2005)
X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype
JH Gibson et al.
BRAIN & DEVELOPMENT (2005)
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
E Scala et al.
JOURNAL OF MEDICAL GENETICS (2005)
Causal relation between α-synuclein gene duplication and familial Parkinson's disease
P Ibáñez et al.
LANCET (2004)
Detection of large-scale variation in the human genome
AJ Iafrate et al.
NATURE GENETICS (2004)
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
α-synuclein locus triplication causes Parkinson's disease
AB Singleton et al.
SCIENCE (2003)
Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet
J Yang et al.
JOURNAL OF CELL BIOLOGY (2002)
Balanced X chromosome inactivation patterns in the Rett syndrome brain
MD Shahbazian et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Important role of hypothalamic Y2 receptors in body weight regulation revealed in conditional knockout mice
A Sainsbury et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
M Zappella et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
JM LaSalle et al.
HUMAN MOLECULAR GENETICS (2001)
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
A Sharp et al.
HUMAN GENETICS (2000)
Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes
DA Male et al.
MOLECULAR IMMUNOLOGY (2000)