Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. (Q35938000)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15523501%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness (English)

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4 January 2020

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1

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4 January 2020

Martin Offringa

4

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4 January 2020

author name string

Maaike C E Jansweijer

2

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4 January 2020

Arnold G E Leenders

3

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4 January 2020

Raoul C M Hennekam

5

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4 January 2020

publication date

1 January 2005

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European Journal of Human Genetics

4 January 2020

language of work or name

English

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published in

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4 January 2020

volume

13

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4 January 2020

issue

1

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4 January 2020

page(s)

6-25

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publication type of scholarly work

4 January 2020

review article

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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

cites work

1 reference

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Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society

21 January 2018

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Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

21 January 2018

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

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Evaluation of the Child with Idiopathic Mental Retardation

21 January 2018

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Simultaneous, Multilocus FISH Analysis for Detection of Microdeletions in the Diagnostic Evaluation of Developmental Delay and Mental Retardation

21 January 2018

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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

21 January 2018

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Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

21 January 2018

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Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry

21 January 2018

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An assessment of the value and limitations of air encephalography in children with mental retardation and with epilepsy

21 January 2018

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Prevalence and Correlates of Mental Retardation among Children in Karachi, Pakistan

21 January 2018

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Agenesis of the corpus callosum: clinical, neuroradiological and cytogenetic studies

21 January 2018

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Childhood autism: the need for physical investigations

21 January 2018

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Improving the quality of reporting of randomized controlled trials. The CONSORT statement

21 January 2018

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Assessing the Quality of Randomised Controlled Trials

21 January 2018

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The art of quality assessment of RCTs included in systematic reviews

21 January 2018

1 reference

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Cytogenetic studies in a selected group of mentally retarded children

21 January 2018

1 reference

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Chromosome abnormalities in pupils attending ESN/M schools

21 January 2018

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Survey of adolescents with severe intellectual handicap

21 January 2018

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Chromosomal and biochemical screening on mentally retarded school children in Taiwan

21 January 2018

1 reference

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Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically.

21 January 2018

1 reference

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Diagnostic yield of the neurologic assessment of the developmentally delayed child

21 January 2018

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A population-based study on the causes of mild and severe mental retardation

21 January 2018

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Outcome of the routine assessment of patients with mental retardation in a genetics clinic

21 January 2018

1 reference

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Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

21 January 2018

1 reference

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

1 reference

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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay

21 January 2018

1 reference

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Subtelomeric rearrangements detected in patients with idiopathic mental retardation

21 January 2018

1 reference

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Detecting rearrangements in children using subtelomeric FISH and SKY.

21 January 2018

1 reference

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The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

21 January 2018

1 reference

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Screening for fra(X)(q) in a population of mentally retarded males

21 January 2018

1 reference

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Frequency of the fragile X syndrome in Japanese mentally retarded males

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201279

An epidemiological and aetiological study of children with intellectual disability in Taiwan

21 January 2018

1 reference

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A simplified six-item checklist for screening for fragile X syndrome in the pediatric population

21 January 2018

1 reference

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Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

21 January 2018

1 reference

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Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan

21 January 2018

1 reference

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Phenylketonuria among the mentally retarded in India

21 January 2018

1 reference

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Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden

21 January 2018

1 reference

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Mild mental retardation in Swedish school children. II. Etiologic and pathogenetic aspects

21 January 2018

1 reference

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Value of computerised tomography in children with non-specific mental subnormally

21 January 2018

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Isolated neurodevelopmental delay in childhood: Clinicoradiological correlation in 170 patients

21 January 2018

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Parental consanguinity among Israeli mental retardates

21 January 2018

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An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967

21 January 2018

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

21 January 2018

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Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

21 January 2018

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Risk factors for early death among extremely low-birth-weight infants

21 January 2018

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Sex differences in outcomes of very low birthweight infants: the newborn male disadvantage

21 January 2018

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21 January 2018

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Neurometabolic testing in developmental delay

21 January 2018

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MRI of patients with cerebral palsy and normal CT scan

21 January 2018

1 reference

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Etiologic yield of subspecialists' evaluation of young children with global developmental delay

21 January 2018

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21 January 2018

1 reference

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7 January 2021

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes

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Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals

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The aetiology of intellectual disability in Western Australia: a community-based study

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A study of mental retardation in children in the Island of Hawaii.

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Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study

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Aetiology in severe and mild mental retardation: a population-based study of Norwegian children

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7 January 2021

Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study.

1 reference

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7 January 2021

Marker X-associated mental retardation. A study of 150 retarded males.

1 reference

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A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology

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Preventive screening for the fragile X syndrome

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Fragile X syndrome among children with mental retardation

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The prevalence of Fragile-X syndrome in an institution for people with learning disability

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Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys

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7 January 2021

Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico

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A Survey of Mentally Retarded Children: I. General Findings

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Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

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Aetiological factors and prevalence of severe mental retardation in children in a Swedish municipality: the possible role of consanguinity

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A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X-linked mental retardation

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An aetiological study of 1,000 patients with an I.Q. assessment below 51

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Applicability of a checklist for clinical screening of the fragile X syndrome

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Chromosomal variants in mentally retarded and normal men

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Institutional screening for the fragile X syndrome

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Etiologic and pathogenetic study of mental retardation with multiple congenital anomalies

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A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience

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A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities

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Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution

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A cytogenetic study of children with clinically unclassifiable multiple congenital malformations and mental retardation

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Chromosome studies on male patients at a mental subnormality hospital

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Identifiers

DOI

10.1038/SJ.EJHG.5201279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15523501%20AND%20SRC:MED&resulttype=core&format=json

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4 January 2020

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24 November 2022

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