(Q37010402)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23810382%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Mutations in PIK3R1 cause SHORT syndrome (English)

1 reference

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4 March 2020

1 reference

Jeremy Schwartzentruber

4

1 reference

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4 March 2020

Lina Basel-Vanagaite

5

1 reference

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4 March 2020

Karen Temple

7

1 reference

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4 March 2020

Rodney D. Gilbert

11

1 reference

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4 March 2020

Mark O'Driscoll

18

1 reference

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4 March 2020

A. Micheil Innes

20

1 reference

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4 March 2020

19

Kym M Boycott

1 reference

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4 March 2020

16

Jacek Majewski

1 reference

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4 March 2020

15

FORGE Canada Consortium

1 reference

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4 March 2020

14

Chandree L Beaulieu

1 reference

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4 March 2020

17

Dennis E Bulman

1 reference

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4 March 2020

author name string

David A Dyment

1

1 reference

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4 March 2020

Amanda C Smith

2

1 reference

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4 March 2020

Diana Alcantara

3

1 reference

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4 March 2020

Cynthia J Curry

6

1 reference

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4 March 2020

William Reardon

8

1 reference

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4 March 2020

Sahar Mansour

9

1 reference

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4 March 2020

Mushfequr R Haq

10

1 reference

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4 March 2020

Ordan J Lehmann

12

1 reference

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4 March 2020

Megan R Vanstone

13

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4 March 2020

language of work or name

English

0 references

publication date

27 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23810382%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 March 2020

published in

1 reference

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4 March 2020

volume

93

1 reference

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4 March 2020

page(s)

158-166

1 reference

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4 March 2020

issue

1

1 reference

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4 March 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Critical nodes in signalling pathways: insights into insulin action

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Increased insulin sensitivity and hypoglycaemia in mice lacking the p85 alpha subunit of phosphoinositide 3-kinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Phosphoinositide 3-kinases: a conserved family of signal transducers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

SHORT syndrome and insulin resistance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

The SHORT syndrome: further delineation and natural history

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Malformation syndromes. A selected miscellany

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Genome wide analysis of pathogenic SH2 domain mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Is SHORT syndrome another phenotypic variation of PITX2?

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710754

Hypoglycaemia, liver necrosis and perinatal death in mice lacking all isoforms of phosphoinositide 3-kinase p85 alpha

4 September 2018

1 reference

12 December 2020

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes

1 reference

12 December 2020

Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?

1 reference

12 December 2020

SHORT syndrome: a new case with probable autosomal dominant inheritance.

1 reference

12 December 2020

Rieger anomaly and congenital glaucoma in the SHORT syndrome

1 reference

12 December 2020

SHORT syndrome: distinctive radiographic features

1 reference

12 December 2020

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome

1 reference

12 December 2020

10.1016/J.AJHG.2013.06.005

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23810382%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23810382%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23810382%20AND%20SRC:MED&resulttype=core&format=json