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Skewed X inactivation in X-linked disorders
SEMINARS IN REPRODUCTIVE MEDICINE
Monogenic causes of X-linked mental retardation
NATURE REVIEWS GENETICS
X chromosome inactivation patterns in 45,X/46,XX mosaics
JOURNAL OF HUMAN GENETICS
Molecular genetics of human microcephaly
CURRENT OPINION IN NEUROLOGY
Fragile X syndrome: A model of gene-brain-behavior relationships
MOLECULAR GENETICS AND METABOLISM
Above and within the genome: Epigenetics past and present
JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
DHPLC analysis of the MECP2 gene in Italian Rett patients
HUMAN MUTATION
Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions
HUMAN MUTATION
Biology of the X chromosome
CURRENT OPINION IN PEDIATRICS
MECP2 mutation screening in Swedish classical Rett syndrome females
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
EUROPEAN JOURNAL OF HUMAN GENETICS
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
EUROPEAN JOURNAL OF HUMAN GENETICS
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
EUROPEAN JOURNAL OF HUMAN GENETICS
Parental origin of de novo MECP2 mutations in Rett syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
MECP2 is highly mutated in X-linked mental retardation
HUMAN MOLECULAR GENETICS
Human diseases with underlying defects in chromatin structure and modification
HUMAN MOLECULAR GENETICS
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening
CLINICAL DYSMORPHOLOGY
Plasma fatty acid levels in autistic children
PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS
Methyl CpG binding proteins: coupling chromatin architecture to gene regulation
ONCOGENE
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
JOURNAL OF MOLECULAR MEDICINE-JMM
Methylated cytosine and the brain: A new base for neuroscience
NEURON
Behavioral phenotypes of genetic syndromes: A reference guide for psychiatrists
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
Double-blind, placebo-controlled study of amantadine hydrochloride in the treatment of children with autistic disorder
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
Epilepsy in a representative series of Rett syndrome
ACTA PAEDIATRICA
MECP2 and mental retardation
M S-MEDECINE SCIENCES
Guidelines for reporting clinical features in cases with MECP2 mutations
BRAIN & DEVELOPMENT
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
BRAIN & DEVELOPMENT
Lamotrigine in two cases of Rett syndrome
BRAIN & DEVELOPMENT
Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome
CHILD CARE HEALTH AND DEVELOPMENT
Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription
NUCLEIC ACIDS RESEARCH
DNA hypomethylation perturbs the function and survival of CNS neurons in postnatal animals
JOURNAL OF NEUROSCIENCE
Molecular genetics of Rett syndrome
NEUROCHEMISTRY INTERNATIONAL
Neurobiology of autism: An update
SALUD MENTAL
Closely related Swedish Rett syndrome females - None with MECP2 mutation revealed
NEUROPEDIATRICS
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
NEUROPEDIATRICS
Prevalence of autism in Iceland
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Angelman syndrome: Mimicking conditions and phenotypes
AMERICAN JOURNAL OF MEDICAL GENETICS
Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA
CELL
Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf21
JOURNAL OF NEUROCHEMISTRY
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease
JOURNAL OF MEDICAL GENETICS
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
JOURNAL OF MEDICAL GENETICS
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
JOURNAL OF MEDICAL GENETICS
Frontal lobe disinhibition, Rett syndrome and attention deficit hyperactivity disorder
CLINICAL ELECTROENCEPHALOGRAPHY
Colonic lymphoid hyperplasia in melanosis coli
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
Clinical and molecular studies in a family with probable X-linked dominantCharcot-Marie-Tooth disease involving the central nervous system
ARCHIVES OF NEUROLOGY
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
JOURNAL OF HUMAN GENETICS
Ictal generalized rhythmic alpha activity during non-convulsive status epilepticus
EUROPEAN JOURNAL OF NEUROLOGY
Sleeplessness in children with neurodevelopmental disorders - Epidemiologyand management
CNS DRUGS
Assessment of potential communicative acts in three individuals with Rett syndrome
JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
Dendritic anomalies in disorders associated with mental retardation
CEREBRAL CORTEX
Family data in Rett syndrome: Association with other genetic disorders
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
Assessing the developmental level in Rett syndrome: an alternative approach?
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
Preserved speech variant is allelic of classic Rett syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
Neuropsychiatry of children and adolescents including psychoses, obsessive-compulsive disorder and physical illness
CURRENT OPINION IN PSYCHIATRY
Sleep-related disorders in neurologic disease during childhood
PEDIATRIC NEUROLOGY
Head growth in Rett syndrome
ACTA PAEDIATRICA
The therapeutics of melatonin: a paediatric perspective
BRAIN & DEVELOPMENT
Some problems in the genetics of X-linked mental retardation
CYTOGENETICS AND CELL GENETICS
Commentary: Potential neurobiologic mechanisms through which metabolic disorders could relate to autism
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
AMERICAN JOURNAL OF MEDICAL GENETICS
Candidate gene analysis in Rett syndrome and the identification of 21 SNPsin Xq
AMERICAN JOURNAL OF MEDICAL GENETICS
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
LANCET
Quantitative H-1 MR spectroscopic imaging in early Rett syndrome
NEUROLOGY
Reduced nerve growth factor in Rett syndrome postmortem brain tissue
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
Mutation screening in Rett syndrome patients
JOURNAL OF MEDICAL GENETICS
Auditory brainstem responses in Rett syndrome: Effects of hyperventilation, seizures, and tympanometric variables
AUDIOLOGY
MECP2 mutation in male patients with non-specific X-linked mental retardation
FEBS LETTERS
Serum NGF levels in children and adolescents with either Williams syndromeor Down syndrome
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Children and adolescents with velocardiofacial syndrome: A volumetric MRI study
AMERICAN JOURNAL OF PSYCHIATRY
Cytoskeletal determinants of dendritic development and function: Implications for mental retardation
DEVELOPMENTAL NEUROPSYCHOLOGY
Dendritic anomalies in disorders associated with mental retardation
DEVELOPMENTAL NEUROPSYCHOLOGY
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
JOURNAL OF SUBMICROSCOPIC CYTOLOGY AND PATHOLOGY
Rett syndrome: Clinical update and review of recent genetic advances
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
Morphological study of the entorhinal cortex, hippocampal formation, and basal ganglia in Rett syndrome patients
NEUROBIOLOGY OF DISEASE
Genetics and neurobiology of development
ARCHIVES DE PEDIATRIE
Review of strategies for treating sleep problems in persons with severe orprofound mental retardation or multiple handicaps
AMERICAN JOURNAL ON MENTAL RETARDATION
Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
Rett syndrome and genetic drift
BRAIN & DEVELOPMENT
Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome
BRAIN & DEVELOPMENT
Very long-chain fatty acids in Rett syndrome
EUROPEAN JOURNAL OF PEDIATRICS
Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Brain involvement in Salla disease
AMERICAN JOURNAL OF NEURORADIOLOGY
Altered cholinergic function in the basal forebrain of girls with Rett syndrome
NEUROPEDIATRICS
Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death
NEUROPEDIATRICS
Neural and behavioral effects of intracranial 192 IgG-saporin in neonatal rats: sexually dimorphic effects?
DEVELOPMENTAL BRAIN RESEARCH
Metacarpophalangeal pattern profile and bone age in Rett syndrome: Furtherradiological clues to the diagnosis
AMERICAN JOURNAL OF MEDICAL GENETICS
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
AMERICAN JOURNAL OF MEDICAL GENETICS
Familial aggregation in Rett syndrome: What is the evidence for clusteringof other disorders in the families of affected girls?
AMERICAN JOURNAL OF MEDICAL GENETICS
Morphogenetic roles of acetylcholine
ENVIRONMENTAL HEALTH PERSPECTIVES
Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p
JOURNAL OF MEDICAL GENETICS
Melatonin treatment of sleep-wake cycle disorders in children and adolescents
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Prolonged QT interval in Rett syndrome
ARCHIVES OF DISEASE IN CHILDHOOD
The X chromosome and recurrent spontaneous abortion: The significance of transmanifesting carriers
AMERICAN JOURNAL OF HUMAN GENETICS
BIOLOGICAL BASIS OF RETT-SYNDROME
Psicologia conductual
RETT-SYNDROME, EEG AND THE MOTOR CORTEX AS A MODEL FOR BETTER UNDERSTANDING OF ATTENTION-DEFICIT HYPERACTIVITY DISORDER (ADHD)
European child & adolescent psychiatry
LAMOTRIGINE IN RETT-SYNDROME - TREATMENT EXPERIENCE FROM A PILOT-STUDY
European child & adolescent psychiatry
THE GENETICS OF MENTAL-RETARDATION
Current opinion in psychiatry
CHARACTERISTIC RESPONSE TO TRANSCRANIAL MAGNETIC STIMULATION IN RETT-SYNDROME
ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY
The effects of neonatal basal forebrain lesions on cognition: Towards understanding the developmental role of the cholinergic basal forebrain
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE