(Q37604522)

21 August 2017

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (English)

1 reference

disability affecting intellectual abilities

21 August 2017

0 references

intellectual disability

1 reference

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rikke S Møller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Orrin Devinsky

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Koen Van Gassen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Carolien G de Kovel

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bridget H Maher

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Simona Balestrini

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

11

Heather C Mefford

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Iris M de Lange

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Katherine L Helbig

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Milen Velinov

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Natalia Dolzhanskaya

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Eric Marsh

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ingo Helbig

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sha Tang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Candace T Myers

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Wim van Paesschen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pasquale Striano

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marjan van Kempen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Juliette Piard

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Berge A Minassian

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marjan M Nezarati

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Aurelia Jacquette

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sanjay Sisodiya

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marie Therese Abi Warde

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Anne De St Martin

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jamel Chelly

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

EuroEPINOMICS-RES MAE working group

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ruben van 't Slot

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Eva H Brilstra

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bobby P C Koeleman

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

André Pessoa

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Lionel Van Maldergem

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

29 June 2016

1 reference

Journal of Medical Genetics

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

850-858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

Analysis of protein-coding genetic variation in 60,706 humans

9 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

X-inactivation patterns in carriers of X-linked myotubular myopathy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5264224

KIAA2022 nonsense mutation in a symptomatic female

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27358180

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-103909

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27358180%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference