Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanismsHomozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesisMutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaMutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Polymicrogyria and absence of pineal gland due to PAX6 mutationAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome ProjectA mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.The changing MR imaging appearance of polymicrogyria: a consequence of myelination.Polymicrogyria: a common and heterogeneous malformation of cortical development.Polymicrogyria, Large Corpus Callosum and Psychomotor Retardation in Four-Year-Old Girl: Potential Association Based on MR Findings. A Case Report and Literature Review.Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.Genetics of the polymicrogyria syndromes.Increased mirror movements after epileptic seizure in a case of polymicrogyria.Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.Prenatal and postnatal follow-up of a fetal interhemispheric arachnoid cyst with partial corpus callosum agenesis, asymmetric ventriculomegaly and localized polymicrogyria. Case report.A case of polymicrogyria in macaque monkey: impact on anatomy and function of the motor system.Current concepts of polymicrogyria.Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRecessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.Polymicrogyria: pathology, fetal origins and mechanisms.GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.A novel GPR56 mutation causes bilateral frontoparietal polymicrogyriaDe novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.Truncation of NHEJ1 in a patient with polymicrogyria.Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP).Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaPolymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisFailure to Identify the Left Arcuate Fasciculus at Diffusion Tractography Is a Specific Marker of Language Dysfunction in Pediatric Patients with PolymicrogyriaSymmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
P921
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P921
description
A condition that affects the d ...... to an abnormally thick cortex.
@en
name
Drobnozakrętowość
@pl
Polymicrogyrie
@nl
Polymikrogyrie
@de
polimicrogiria
@es
polimicrogíria
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polymicrogyria
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polymicrogyrie
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type
label
Drobnozakrętowość
@pl
Polymicrogyrie
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Polymikrogyrie
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polimicrogiria
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polimicrogíria
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polymicrogyria
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polymicrogyrie
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altLabel
polimicrogiria
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prefLabel
Drobnozakrętowość
@pl
Polymicrogyrie
@nl
Polymikrogyrie
@de
polimicrogiria
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polimicrogíria
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polymicrogyria
@en
polymicrogyrie
@fr
P486
P6366
P646
P1550
P1748
P1995
P2888
P2892
P31
P3417
Polymicrogyria
P373
Polymicrogyria
P3841
HP:0002126
P4229
P4317
P486
P5270
MONDO:0000087
P6366
2778596996