Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. (Q55490353)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18627038%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder (English)

1 reference

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10 January 2020

main subject

autism spectrum disorder

0 references

0 references

1 reference

6

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10 January 2020

author name string

Catalina García-Nonell

1

1 reference

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10 January 2020

Eugenia Rigau Ratera

2

1 reference

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10 January 2020

Susan Harris

3

1 reference

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10 January 2020

David Hessl

4

1 reference

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10 January 2020

Michele Y Ono

5

1 reference

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10 January 2020

Emily Marvin

7

1 reference

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10 January 2020

Flora Tassone

8

1 reference

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10 January 2020

Randi J Hagerman

9

1 reference

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10 January 2020

language of work or name

English

0 references

publication date

1 August 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18627038%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

10 January 2020

published in

1 reference

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10 January 2020

volume

146A

1 reference

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10 January 2020

issue

15

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10 January 2020

page(s)

1911-1916

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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

10 January 2020

cites work

1 reference

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An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

27 July 2018

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Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

27 July 2018

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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

27 July 2018

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Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

27 July 2018

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27 July 2018

Neurobiology of autism

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Familial transmission of the FMR1 CGG repeat.

27 July 2018

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A controlled study of longitudinal IQ changes in females and males with fragile X syndrome

27 July 2018

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Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype

27 July 2018

1 reference

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The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis

27 July 2018

1 reference

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Sex chromosomal and autosomal aneuploidy in the fragile X syndrome.

27 July 2018

1 reference

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The Prader-Willi phenotype of fragile X syndrome

27 July 2018

1 reference

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Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Fragile X syndrome and autism at the intersection of genetic and neural networks

12 August 2018

1 reference

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Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

12 August 2018

1 reference

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Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

12 August 2018

1 reference

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Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Sex differences in performance over 7 years on the Wechsler Intelligence Scale for Children--Revised among adults with intellectual disability

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

The XYY syndrome: a follow-up study on 38 boys

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Epilepsy in fragile X syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Variability in FMRP and early development in males with fragile X syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Epilepsy and EEG findings in 18 males with fragile X syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

12 August 2018

1 reference

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Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Epilepsy and EEG findings in males with fragile X syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

FMRP expression as a potential prognostic indicator in fragile X syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

47,XYY karyotypes and pervasive developmental disorders

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Phenotypic involvement in females with the FMR1 gene mutation.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Autism is associated with the fragile-X syndrome.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

On the definition and classification of mental retardation

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

12 August 2018

A marker X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Epilepsy in autism and autisticlike conditions. A population-based study.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4097171

Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18627038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

46XY/47XYY mosaicism and fragile X

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18627038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Can the behavioural phenotype of fragile X syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18627038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18627038%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18627038%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

18627038

1 reference