(Q33617351)

28 July 2017

title

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes (English)

1 reference

28 July 2017

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14

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28 July 2017

10

Hilde Van Esch

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Helena Kääriäinen

9

Helena Kääriäinen

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Anju K Philips

Anju K Philips

1

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Irma Järvelä

Irma Järvelä

15

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Stefan Haas

Stefan A Haas

12

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author name string

Auli Sirén

2

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28 July 2017

Kristiina Avela

3

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28 July 2017

Mirja Somer

4

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28 July 2017

Maarit Peippo

5

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28 July 2017

Minna Ahvenainen

6

1 reference

28 July 2017

Fatma Doagu

7

1 reference

28 July 2017

Maria Arvio

8

1 reference

28 July 2017

Hilde Van Esch

10

1 reference

28 July 2017

Guy Froyen

11

1 reference

28 July 2017

Hao Hu

13

1 reference

28 July 2017

publication date

11 April 2014

1 reference

Orphanet Journal of Rare Diseases

28 July 2017

published in

1 reference

28 July 2017

volume

9

1 reference

28 July 2017

page(s)

49

1 reference

Making headway with genetic diagnostics of intellectual disabilities

28 July 2017

cites work

1 reference

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

21 June 2018

1 reference

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Large-scale gene function analysis with the PANTHER classification system

21 June 2018

1 reference

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The neurobiology of X-linked intellectual disability.

21 June 2018

1 reference

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Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Genetic basis of intellectual disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Thyroid hormone transporters in the human.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Functional annotations improve the predictive score of human disease-related mutations in proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

SIFT: Predicting amino acid changes that affect protein function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Cloning and mapping of members of the MYM family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Molecular genetics of the Finnish disease heritage.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

SAP102, a novel postsynaptic protein that interacts with NMDA receptor complexes in vivo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Molecular dissection of the agonist binding site of an AMPA receptor.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Unraveling the modular design of glutamate-gated ion channels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

ConSeq: the identification of functionally and structurally important residues in protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

Partial tandem duplication of GRIA3 in a male with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-49

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022384

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24721225

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-49

1 reference

Dimensions Publication ID

28 July 2017

1032812490

0 references

Fatcat ID

release_aysgv4rqzngvtonrzp4pbppfxu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aysgv4rqzngvtonrzp4pbppfxu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

4022384

1 reference

28 July 2017

1 reference