About: Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

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scientific article published on 01 April 1988

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у квітні 1988 (uk) im April 1988 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'abril de 1988 (ast) scientific article published on 01 April 1988 (en)
publication date	wds:Q69029784-40E9F50B-BD48-4587-95D4-45CE5D0C4DB7
publication date	1988-04-01 00:00:00Z (xsd:dateTime)
rdfs:label	Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (en) Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (nl)
skos:prefLabel	Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (en) Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (nl)
name	Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (en) Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (nl)
title	wds:Q69029784-3ECD94AE-7833-4290-A5BC-8BE4F484CCB0
title	Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group (en)
page(s)	wds:Q69029784-5DAF622E-1F7F-4A5D-B87C-7B1AE9007742
page(s)	425-428
instance of	wds:Q69029784-6CE1581F-C238-402B-8779-38B70527AFCE
instance of	scholarly article
main subject	wds:Q69029784-CC7D4C2A-ABE6-4D30-B55A-1D2097B9B351
main subject	Rett syndrome
PubMed ID	wds:Q69029784-7540B800-3EA5-4A8B-8A21-531ACB14EFA9
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/2454607
PubMed ID	2454607
published in	wds:Q69029784-2834393B-BD95-4B3D-827B-EE4F141BC303
published in	Annals of Neurology
issue	wds:Q69029784-A94DDD6F-0626-4C1E-B506-0C74658D3E76
volume	wds:Q69029784-FC91A4DB-408E-40DE-923E-6743E14B6C62
issue	4
volume	23
DOI	wds:Q69029784-62814782-A7AF-42D7-A353-0757F9010F0D
DOI	http://dx.doi.org/10.1002/ANA.410230432
DOI	10.1002/ANA.410230432
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69029784
is cites work of	Identification of MeCP2 mutations in a series of females with autistic disorder The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. Twenty years of surveillance in Rett syndrome: what does this tell us? Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. DHPLC analysis of the MECP2 gene in Italian Rett patients. MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Rett syndrome: review of biological abnormalities. MECP2 mutation in male patients with non-specific X-linked mental retardation. Breathholding spells in childhood Prader-Willi syndrome: consensus diagnostic criteria. The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases Trends in the diagnosis of Rett syndrome in Australia. Features of autism in Rett syndrome and severe mental retardation. Regression in individuals with Rett syndrome. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3 Rett syndrome: the complex nature of a monogenic disease Brief report: systematic review of Rett syndrome in males The Rett syndrome: gross motor disability and neural impairment in adults. Rett syndrome: critical examination of clinical features, serial EEG and video-monitoring in understanding and management. Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome Deletion screening by fluorescence in situ hybridization in Rett syndrome patients Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations Spectrum of MECP2 mutations in Rett syndrome Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study Rett syndrome diagnostic criteria: lessons from the Natural History Study High levels of cerebrospinal fluid glutamate in Rett syndrome Characteristic response to transcranial magnetic stimulation in Rett syndrome. Oxidative stress in Rett syndrome CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms 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 Neurodevelopmental disorders: Clinical criteria for Rett syndrome. Giant somatosensory evoked potentials in the Rett syndrome. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome Is Rett syndrome a subtype of pervasive developmental disorders? Guidelines for reporting clinical features in cases with MECP2 mutations. Neurobiology and neurochemistry of Rett syndrome Rett syndrome: neurobiological changes underlying specific symptoms The Rett syndrome and CSF lactic acid patterns Feeding and swallowing dysfunction in genetic syndromes Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome MECP2 mutations in males. Osteopenia in Rett syndrome Male Rett syndrome variant: application of diagnostic criteria The Rett syndrome in males. The borderland of autism and Rett syndrome: five case histories to highlight diagnostic difficulties. A boy with the Rett syndrome? The Rett syndrome in males Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease Clinical characteristics of children with rett syndrome Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech The Rett girls with preserved speech Rett Syndrome: Reaching for Clinical Trials Rett syndrome: new clinical and molecular insights. Stress and family functioning in parents of girls with Rett syndrome. Communication abilities and Rett syndrome Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome. Rett syndrome: characterization of seizures versus non-seizures Brain glucose metabolism in Rett Syndrome Vitamin E serum levels in Rett syndrome. Rett syndrome. Current status and new vistas

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