Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q38091854)
Watch
English
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.
scientific article published on 18 March 2013
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
title
Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
author
Kathleen J Millen
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
author name string
Dan Doherty
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
A James Barkovich
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
publication date
18 March 2013
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
published in
Lancet Neurology
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
volume
12
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
page(s)
381-393
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
cites work
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities
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=4158743
retrieved
6 September 2017
Aspirin use, tumor PIK3CA mutation, and colorectal-cancer survival
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=4158743
retrieved
6 September 2017
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
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=4158743
retrieved
6 September 2017
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation
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=4158743
retrieved
6 September 2017
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly 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=4158743
retrieved
6 September 2017
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
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=4158743
retrieved
6 September 2017
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough 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=4158743
retrieved
6 September 2017
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
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=4158743
retrieved
6 September 2017
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
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=4158743
retrieved
6 September 2017
Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes
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=4158743
retrieved
6 September 2017
The autosomal recessive cerebellar ataxias
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=4158743
retrieved
6 September 2017
TUBA1A mutation-associated lissencephaly: case report and review of the literature
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=4158743
retrieved
6 September 2017
Disease-associated mutations prevent GPR56-collagen III interaction
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=4158743
retrieved
6 September 2017
3D morphometric analysis of human fetal cerebellar development
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=4158743
retrieved
6 September 2017
The fetal cerebellum: development and common malformations
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=4158743
retrieved
6 September 2017
Cardiovascular defects in a mouse model of HOXA1 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=4158743
retrieved
6 September 2017
A mosaic activating mutation in AKT1 associated with the Proteus 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=4158743
retrieved
6 September 2017
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
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=4158743
retrieved
6 September 2017
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent 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=4158743
retrieved
6 September 2017
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert 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=4158743
retrieved
6 September 2017
Ciliopathies
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=4158743
retrieved
6 September 2017
TSEN54 mutations cause pontocerebellar hypoplasia type 5
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=4158743
retrieved
6 September 2017
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms
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=4158743
retrieved
6 September 2017
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
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=4158743
retrieved
6 September 2017
Migration, early axonogenesis, and Reelin-dependent layer-forming behavior of early/posterior-born Purkinje cells in the developing mouse lateral cerebellum
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=4158743
retrieved
6 September 2017
VLDLR-Associated Cerebellar Hypoplasia
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=4158743
retrieved
6 September 2017
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
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=4158743
retrieved
6 September 2017
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders
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=4158743
retrieved
6 September 2017
A developmental and genetic classification for midbrain-hindbrain malformations
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=4158743
retrieved
6 September 2017
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
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=4158743
retrieved
6 September 2017
Consensus Statement on Diagnostic Criteria for PHACE 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=4158743
retrieved
6 September 2017
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
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=4158743
retrieved
6 September 2017
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene
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=4158743
retrieved
6 September 2017
Abnormal glycosylation of dystroglycan in human genetic disease
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=4158743
retrieved
6 September 2017
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
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=4158743
retrieved
6 September 2017
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
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=4158743
retrieved
6 September 2017
Midbrain-hindbrain involvement in lissencephalies
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=4158743
retrieved
6 September 2017
Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation
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=4158743
retrieved
6 September 2017
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
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=4158743
retrieved
6 September 2017
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction 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=4158743
retrieved
6 September 2017
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
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=4158743
retrieved
6 September 2017
PHACES association: a neuroradiologic review of 17 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=4158743
retrieved
6 September 2017
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
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=4158743
retrieved
6 September 2017
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
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=4158743
retrieved
6 September 2017
Cerebellar GABAergic progenitors adopt an external granule cell-like phenotype in the absence of Ptf1a transcription factor expression
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=4158743
retrieved
6 September 2017
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
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=4158743
retrieved
6 September 2017
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
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=4158743
retrieved
6 September 2017
The Ciliopathies: An Emerging Class of Human Genetic Disorders
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=4158743
retrieved
6 September 2017
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
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=4158743
retrieved
6 September 2017
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
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=4158743
retrieved
6 September 2017
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
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=4158743
retrieved
6 September 2017
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
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=4158743
retrieved
6 September 2017
Mutations in PTF1A cause pancreatic and cerebellar agenesis
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=4158743
retrieved
6 September 2017
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
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=4158743
retrieved
6 September 2017
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
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=4158743
retrieved
6 September 2017
Human malformations of the midbrain and hindbrain: review and proposed classification scheme
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=4158743
retrieved
6 September 2017
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
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=4158743
retrieved
6 September 2017
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
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=4158743
retrieved
6 September 2017
Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations
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=4158743
retrieved
6 September 2017
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
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=4158743
retrieved
6 September 2017
Molecular genetic classification of central nervous system malformations
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=4158743
retrieved
6 September 2017
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
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=4158743
retrieved
6 September 2017
Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain
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=4158743
retrieved
6 September 2017
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
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=4158743
retrieved
6 September 2017
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken 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=4158743
retrieved
6 September 2017
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder
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=4158743
retrieved
6 September 2017
Reelin is a secreted glycoprotein recognized by the CR-50 monoclonal antibody.
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=4158743
retrieved
6 September 2017
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities
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=4158743
retrieved
6 September 2017
A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
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=4158743
retrieved
6 September 2017
The Dandy-Walker malformation. A review of 40 cases
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=4158743
retrieved
6 September 2017
Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks
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=4158743
retrieved
6 September 2017
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
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=4158743
retrieved
23 June 2018
Somatic activation of AKT3 causes hemispheric developmental brain malformations
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=4158743
retrieved
23 June 2018
Phenotypic spectrum associated with CASK loss-of-function mutations
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=4158743
retrieved
23 June 2018
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
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=4158743
retrieved
23 June 2018
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
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=4158743
retrieved
23 June 2018
Disruption of cerebellar development: potential complication of extreme prematurity.
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=4158743
retrieved
23 June 2018
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
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=4158743
retrieved
23 June 2018
Selective targeting of somatostatin receptor 3 to neuronal cilia
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=4158743
retrieved
23 June 2018
Math1 is essential for genesis of cerebellar granule neurons
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=4158743
retrieved
23 June 2018
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema
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=4158743
retrieved
23 June 2018
Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans.
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=4158743
retrieved
23 June 2018
Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6
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=4158743
retrieved
23 June 2018
Neurodevelopmental abnormalities in children with PHACE 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=4158743
retrieved
31 August 2018
The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.
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=4158743
retrieved
31 August 2018
Macrocerebellum: significance and pathogenic considerations
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=4158743
retrieved
31 August 2018
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
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=4158743
retrieved
31 August 2018
PI3K pathway inhibitors approach junction.
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=4158743
retrieved
31 August 2018
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 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=4158743
retrieved
31 August 2018
Spectrum of neurodevelopmental disabilities in children with cerebellar malformations.
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=4158743
retrieved
31 August 2018
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
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=4158743
retrieved
31 August 2018
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.
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=4158743
retrieved
31 August 2018
Pontine tegmental cap dysplasia: the severe end of the clinical spectrum
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=4158743
retrieved
31 August 2018
A developmental classification of malformations of the brainstem
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=4158743
retrieved
31 August 2018
Diffusion tensor imaging in Joubert 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=4158743
retrieved
31 August 2018
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.
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=4158743
retrieved
31 August 2018
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
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=4158743
retrieved
31 August 2018
Diffusion tensor imaging of midline posterior fossa malformations
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=4158743
retrieved
31 August 2018
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains
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=4158743
retrieved
31 August 2018
The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie.
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=4158743
retrieved
31 August 2018
110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002.
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=4158743
retrieved
31 August 2018
Athabascan brainstem dysgenesis 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=4158743
retrieved
31 August 2018
Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.
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=4158743
retrieved
31 August 2018
Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations
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=4158743
retrieved
31 August 2018
Regulation of Purkinje cell alignment by reelin as revealed with CR-50 antibody.
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=4158743
retrieved
31 August 2018
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis
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=4158743
retrieved
1 October 2018
Development of precerebellar nuclei: instructive factors and intracellular mediators in neuronal migration, survival and axon pathfinding
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=4158743
retrieved
3 December 2018
Outcome of fetal cerebral posterior fossa anomalies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970024-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970024-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two rhombomeres are altered in Hoxa-1 mutant mice
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23518331
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/S1474-4422(13)70024-3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
PMC publication ID
4158743
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
PubMed publication ID
23518331
1 reference
stated in
Europe PubMed Central
PMC publication ID
4158743
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23518331%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit