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Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis
scientific article
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instance of
scholarly article
1 reference
stated in
PubMed
title
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis
(English)
1 reference
stated in
PubMed
main subject
craniosynostosis
0 references
Muenke syndrome
1 reference
based on heuristic
inferred from title
author
Maximilian Muenke
series ordinal
4
object named as
Maximilian Muenke
1 reference
stated in
Crossref
author name string
Nneamaka B. Agochukwu
series ordinal
1
1 reference
stated in
Crossref
Benjamin D. Solomon
series ordinal
2
1 reference
stated in
Crossref
Andrea L. Gropman
series ordinal
3
1 reference
stated in
Crossref
language of work or name
English
1 reference
stated in
PubMed
publication date
November 2012
1 reference
stated in
PubMed
published in
Pediatric Neurology
1 reference
stated in
PubMed
volume
47
1 reference
stated in
PubMed
issue
5
1 reference
stated in
PubMed
page(s)
355-61
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stated in
PubMed
cites work
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
A Korean family with the Muenke syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
Syndrome of acquired aphasia with convulsive disorder in children
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
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28 September 2017
Community-based study of Lennox-Gastaut syndrome
1 reference
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PubMed Central
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retrieved
28 September 2017
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
The central nervous system in the Apert syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 September 2017
Hypoxia-induced hyperexcitability in vivo and in vitro in the immature hippocampus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
31 May 2018
Perinatal exposure to anoxia alone does not alter the susceptibility to amygdaloid-kindled seizures in the adult rabbit.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
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31 May 2018
A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
31 May 2018
Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Additional phenotypic features of Muenke syndrome in 2 Dutch families.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
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28 November 2018
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Significant phenotypic variability of Muenke syndrome in identical twins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Prognosis of patients with seizures occurring in the first 2 years.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Sudden infant death in a patient with FGFR3 P250R mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Infantile spasms in a patient with williams syndrome and craniosynostosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Epilepsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Acrocephalosyndactyly -- the coalesced hand
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Nonpenetrance in FGFR3-associated coronal synostosis syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4133743
retrieved
28 November 2018
Perinatal hypoxia and subsequent development of seizures
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23044018
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23044018
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.PEDIATRNEUROL.2012.07.004
0 references
PMC publication ID
4133743
1 reference
stated in
PubMed
PubMed publication ID
23044018
1 reference
stated in
PubMed
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