(Q35938000)

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

4 January 2020

review article

1 reference

title

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

1 reference

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

4 January 2020

1 reference

1 reference

1

1 reference

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

4 January 2020

Martin Offringa

4

1 reference

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

4 January 2020

author name string

Maaike C E Jansweijer

2

1 reference

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

4 January 2020

Arnold G E Leenders

3

1 reference

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

4 January 2020

Raoul C M Hennekam

5

1 reference

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

4 January 2020

publication date

1 January 2005

1 reference

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

European Journal of Human Genetics

4 January 2020

published in

1 reference

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

4 January 2020

volume

13

1 reference

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

4 January 2020

issue

1

1 reference

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

4 January 2020

page(s)

6-25

1 reference

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

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201279

4 January 2020

exact match

0 references

cites work

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

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Evaluation of the Child with Idiopathic Mental Retardation

21 January 2018

1 reference

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

Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Prevalence and correlates of mental retardation among children in Karachi, Pakistan

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Childhood autism: the need for physical investigations.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Assessing the Quality of Randomised Controlled Trials

21 January 2018

1 reference

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

The art of quality assessment of RCTs included in systematic reviews

21 January 2018

1 reference

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

Cytogenetic studies in a selected group of mentally retarded children.

21 January 2018

1 reference

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

Chromosome abnormalities in pupils attending ESN/M schools

21 January 2018

1 reference

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

Survey of adolescents with severe intellectual handicap

21 January 2018

1 reference

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

Chromosomal and biochemical screening on mentally retarded school children in Taiwan

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Diagnostic yield of the neurologic assessment of the developmentally delayed child

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

21 January 2018

1 reference

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

Detecting rearrangements in children using subtelomeric FISH and SKY.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

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

21 January 2018

1 reference

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

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

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

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

21 January 2018

1 reference

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

Phenylketonuria among the mentally retarded in India.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients.

21 January 2018

1 reference

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

Parental consanguinity among Israeli mental retardates

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Neurometabolic testing in developmental delay.

21 January 2018

1 reference

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

MRI of patients with cerebral palsy and normal CT scan.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Preventive screening for the fragile X syndrome

1 reference

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

7 January 2021

Fragile X syndrome among children with mental retardation

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

A Survey of Mentally Retarded Children: I. General Findings

1 reference

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

7 January 2021

Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

release_t2flavl43zebph4452kniqg2ri

4 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/t2flavl43zebph4452kniqg2ri

24 November 2022

mapped directly with Wikidata item

1 reference