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The Epigenetic Factor Landscape of Developing Neocortex Is Regulated by Transcription Factors Pax6→ Tbr2→ Tbr1

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Timing in Neural Maturation: Arrest, Delay, Precociousness, and Temporal Determination of Malformations

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The Development of the Thalamic Motor Learning Area Is Regulated by Fgf8 Expression

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Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation

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Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences

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Analogous mechanism regulating formation of neocortical basal radial glia and cerebellar Bergmann glia

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Fibroblast growth factor receptor 3 kinase domain mutation increases cortical progenitor proliferation via mitogen‐activated protein kinase activation

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Apert syndrome: temporal lobe abnormalities on fetal brain imaging

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Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies

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Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated withFGFR3-Related Skeletal Dysplasias

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Growth and development in thanatophoric dysplasia – an update 25 years later

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Central nervous system malformations and deformations in FGFR2‐related craniosynostosis

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Abnormalities of the foetal cerebral cortex

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Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells

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Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation

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Self-organization and interareal networks in the primate cortex

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Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I

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Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings

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FGF8-mediated gene regulation affects regional identity in human cerebral organoids

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Molecular Investigations of the Development and Diseases of Cerebral Cortex Folding using Gyrencephalic Mammal Ferrets

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Fetal magnetic resonance imaging: supratentorial brain malformations

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Development of Cerebellar Nuclei

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The Principle of Cortical Development and Evolution

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ERK signaling expands mammalian cortical radial glial cells and extends the neurogenic period

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Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia

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THE FETAL MUSCULOSKELETAL SYSTEM

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Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals

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Developing guinea pig brain as a model for cortical folding

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Molecular investigations of development and diseases of the brain of higher mammals using the ferret

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Malformations of Cortical Development

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Thanatophoric Dysplasia: Autopsy Findings over a 25-Year Period

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Assessment of genetic variant burden in epilepsy-associated brain lesions

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Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound

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The Lateral Temporal Lobe in Early Human Life

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Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation

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Thanatophoric dysplasia: A review

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Regulation of cell proliferation and apoptosis in neuroblastoma cells by ccp1, a FGF2 downstream gene

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The Genetic Landscape of Polymicrogyria

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Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

Martínez‐Frías, M. L., Egüés, X., Puras, A., Hualde, J. B., de Frutos, C. A., Bermejo, E., Nieto, M. A., & Martı́nez, S. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33765 · Cited by 11 · see citing works

Enhanced FGFR3 activity in postmitotic principal neurons during brain development results in cortical dysplasia and axonal tract abnormality

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Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia

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Malformations of Cortical Development

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A model of neocortical area patterning in the lissencephalic mouse may hold for larger gyrencephalic brains

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Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study

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Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia

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Organizational Events

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Troubles du langage chez les enfants porteurs d’anomalies morphologiques de l’hippocampe

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

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The One-Stop Gyrification Station - Challenges and New Technologies

Hickmott, R. A., Bosakhar, A., Quezada, S., Barresi, M., Walker, D. W., Ryan, A. L., Quigley, A. F., & Tolcos, M. (2021) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2021.102111 · Cited by 7 · see citing works

Pathophysiological analyses of leptomeningeal heterotopia using gyrencephalic mammals

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Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

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Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?

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A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation

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Dutch teratological collections and their artistic portrayals

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Thanatophoric Dwarfism

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Thanatophoric Dysplasia: Role of 3D Sonography

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Area patterning of the mammalian neocortex

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Recommendation on test readiness criteria for new approach methods in toxicology: Exemplified for developmental neurotoxicity_suppl

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Genetics of Hydrocephalus: Causal and Contributory Factors

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Fetal Alcohol Syndrome and Secondary Schizophrenia

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Congenital and Acquired Conditions of the Mesial Temporal Lobe: A Pictorial Essay

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Neuropathology of the Human Hippocampus

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Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months

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Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis

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Development of Cerebellar Nuclei

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Malformations of Cortical Development

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Cortical Development and Disorders

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Formation of gyri and sulci

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Fetal Skeletal Dysplasia

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Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations

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Thanatophoric dysplasia type 1 with temporal lobe dysplasia

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Growth in Thanatophoric Dysplasia

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Thanatophoric dysplasia Type 1: A rare case of recurrence

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Cerebellar Developmental Disorders and Cerebellar Nuclei

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New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant

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Congenital Anomalies

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Development of Cerebellar Nuclei

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Malformations

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Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I

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Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

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Medial Temporal Lobe Dysgenesis and More in a Man with Hypochondroplasia and Epilepsy

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P19.04: Brain focal polygyria in thanatophoric dysplasia by ultrasound at 17–18 weeks of gestation: two case reports

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Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

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