A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). (Q53144464)

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scientific article published on 18 September 2012

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

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English	A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).	scientific article published on 18 September 2012	A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

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scholarly article

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). (English)

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

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microcephaly with simplified Gyral pattern

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inferred from title

Ghada M Abdel-Salam

1

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

Ashleigh Schaffer

2

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

3

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

6

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

object named as

Inas S Mostafa

5

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Joseph G Gleeson

7

object named as

Joseph G Gleeson

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Europe PubMed Central

11 May 2018

author name string

Tracy Dixon-Salazar

4

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

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publication date

18 September 2012

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

American Journal of Medical Genetics

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

158A

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

11

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Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

2788-2796

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

Mitochondria and neonatal epileptic encephalopathies with suppression burst

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

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Clinical and brain imaging heterogeneity of severe microcephaly

1 reference

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

1 reference

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22 May 2018

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

1 reference

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22 May 2018

Many roads lead to primary autosomal recessive microcephaly

1 reference

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Reprogramming of human somatic cells to pluripotency with defined factors

1 reference

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22 May 2018

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

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22 May 2018

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

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Phosphorylation of the alpha subunit of eukaryotic initiation factor 2 is required for activation of NF-kappaB in response to diverse cellular stresses

1 reference

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22 May 2018

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

Diagnostic criteria and genetics of the PEHO syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

22 May 2018

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

13 August 2018

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

13 August 2018

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

1 reference

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13 August 2018

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3477270

13 August 2018

Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/22991235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22991235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22991235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.35583

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

1 reference

Europe PubMed Central

11 May 2018

http://europepmc.org/abstract/PMC/3477270

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