(Q37785978)

23 August 2017

title

Genetics of early onset cognitive impairment (English)

1 reference

23 August 2017

Genetics of Early Onset Cognitive Impairment (English)

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

8 July 2024

main subject

cognitive dysfunction

1 reference

Hans Hilger Ropers

1

1 reference

23 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20822471

8 July 2024

publication date

1 January 2010

1 reference

full work available at URL

23 August 2017

http://arjournals.annualreviews.org/doi/abs/10.1146/annurev-genom-082509-141640

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:20822471

https://www.annualreviews.org/doi/pdf/10.1146/annurev-genom-082509-141640

8 July 2024

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Annual Review of Genomics and Human Genetics

8 July 2024

published in

1 reference

23 August 2017

volume

11

1 reference

23 August 2017

page(s)

161-187

1 reference

Maternal risk factors in fetal alcohol syndrome: provocative and permissive influences

23 August 2017

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Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

8 July 2024

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Role of genotype in the cycle of violence in maltreated children

8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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Diagnostic genome profiling in mental retardation

8 July 2024

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Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

8 July 2024

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Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

8 July 2024

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8 July 2024

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Variation in the influence of selected sociodemographic risk factors for mental retardation.

8 July 2024

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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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Sex dependent imprinting effects on complex traits in mice

8 July 2024

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

8 July 2024

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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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Altered synaptic plasticity in a mouse model of fragile X mental retardation

8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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8 July 2024

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FMR1: a gene with three faces

8 July 2024

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Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

8 July 2024

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Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

8 July 2024

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No health without mental health

8 July 2024

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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

8 July 2024

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Autism in search of a home in the brain

8 July 2024

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

8 July 2024

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'Mental retardation' or 'intellectual disability': time for a conceptual change

8 July 2024

142

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Distal Xq duplication and functional Xq disomy.

8 July 2024

143

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

The renaming of mental retardation: understanding the change to the term intellectual disability.

8 July 2024

144

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

The relationship of prenatal and perinatal complications to cognitive functioning at age 7 in the New England Cohorts of the National Collaborative Perinatal Project

8 July 2024

145

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Large-scale medical resequencing for X-linked mental retardation

8 July 2024

146

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

8 July 2024

147

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Prevention of intellectual and developmental disabilities

8 July 2024

149

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

The Croydon Assessment of Learning Study: prevalence and educational identification of mild mental retardation

8 July 2024

150

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Rethinking the nature of genetic vulnerability to autistic spectrum disorders

8 July 2024

151

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Specific chromosomal imbalances in human papillomavirus-transfected cells during progression toward immortality

8 July 2024

152

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Fetal alcohol spectrum disorders in young adulthood

8 July 2024

153

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

8 July 2024

154

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Advances in X-linked mental retardation

8 July 2024

155

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Fetal alcohol syndrome in twins of alcoholic mothers: concordance of diagnosis and IQ.

8 July 2024

156

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

8 July 2024

157

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

8 July 2024

158

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

8 July 2024

159

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

8 July 2024

160

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Balanced translocations in mental retardation

8 July 2024

161

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

8 July 2024

162

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

8 July 2024

163

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

8 July 2024

164

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Association between microdeletion and microduplication at 16p11.2 and autism

8 July 2024

165

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Prevalence of intellectual disability: a comprehensive study based on national registers

8 July 2024

166

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Regulation of monoamine oxidase A by the SRY gene on the Y chromosome

8 July 2024

167

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Genesis of dendritic spines: insights from ultrastructural and imaging studies

8 July 2024

168

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Copy number variation in human health, disease, and evolution

8 July 2024

169

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development

8 July 2024

170

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Copy number and sequence variants implicate APBA2 as an autism candidate gene

8 July 2024

171

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

8 July 2024

172

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

8 July 2024

173

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

8 July 2024

174

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

8 July 2024

175

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

8 July 2024

176

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

8 July 2024

177

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

8 July 2024

178

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

8 July 2024

179

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

8 July 2024

180

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

8 July 2024

181

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Autism, language delay and mental retardation in a patient with 7q11 duplication

8 July 2024

182

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

8 July 2024

183

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

8 July 2024

184

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

8 July 2024

185

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

8 July 2024

186

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

8 July 2024

187

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

8 July 2024

188

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

8 July 2024

189

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

8 July 2024

190

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

8 July 2024

191

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

8 July 2024

192

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Copy number variation in schizophrenia in the Japanese population

8 July 2024

193

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

8 July 2024

194

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

8 July 2024

195

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

8 July 2024

196

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

8 July 2024

197

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

8 July 2024

198

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

8 July 2024

199

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

8 July 2024

200

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

8 July 2024

201

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

8 July 2024

202

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

3q29 interstitial microduplication: a new syndrome in a three-generation family.

8 July 2024

203

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Microduplications of 16p11.2 are associated with schizophrenia

8 July 2024

204

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

8 July 2024

205

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

8 July 2024

206

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

8 July 2024

207

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

8 July 2024

208

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A complex phenotype with cystic renal disease.

8 July 2024

209

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Deletion 22q13.3 syndrome

8 July 2024

210

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

8 July 2024

211

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

8 July 2024

212

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

8 July 2024

213

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

8 July 2024

214

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

8 July 2024

215

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

8 July 2024

216

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

8 July 2024

217

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Characterization of a recurrent 15q24 microdeletion syndrome.

8 July 2024

218

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

8 July 2024

219

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

8 July 2024

220

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Severe expressive-language delay related to duplication of the Williams-Beuren locus

8 July 2024

221

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Large recurrent microdeletions associated with schizophrenia

8 July 2024

222

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

8 July 2024

223

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

8 July 2024

224

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

8 July 2024

225

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

8 July 2024

226

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

8 July 2024

227

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

8 July 2024

228

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

8 July 2024

229

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

8 July 2024

230

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Association between microdeletion and microduplication at 16p11.2 and autism

8 July 2024

231

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Clinical variability of the 22q11.2 duplication syndrome.

8 July 2024

232

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

8 July 2024

233

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Microduplication and triplication of 22q11.2: a highly variable syndrome

8 July 2024

234

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

8 July 2024

236

1 reference

https://api.crossref.org/works/10.1146/ANNUREV-GENOM-082509-141640

8 July 2024

Identifiers

1 reference

23 August 2017

1 reference