(Q48825369)

English

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.

scientific article published on 4 December 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

X-linked intellectual disability

0 references

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

author name string

Stephanie K Gandomi

1

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

K D Farwell Gonzalez

2

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

M Parra

3

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

L Shahmirzadi

4

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

J Mancuso

5

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

P Pichurin

6

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

R Temme

7

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

S Dugan

8

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

W Zeng

9

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

Sha Tang

10

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

publication date

4 December 2013

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

Journal of Genetic Counseling

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

23

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

3

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

289-298

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

Genetics and pathophysiology of mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Clinical applications of sequencing take center stage

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Next generation sequencing--implications for clinical practice

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Integrative genomics viewer

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

On the future of genetic risk assessment

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

dbSNP: the NCBI database of genetic variation

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

The International HapMap Project

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9671-6

21 January 2018

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24306141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/24306141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24306141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24306141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10897-013-9671-6

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 February 2018

http://europepmc.org/abstract/MED/24306141

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