The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

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The One-Stop Gyrification Station - Challenges and New Technologies

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

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Fetal Skeletal Dysplasia

Kline‐Fath, B. M. (2024) · Magnetic Resonance Imaging Clinics of North America · doi:10.1016/j.mric.2024.02.009 · Cited by 1

Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations

Clement, E. A. V. D. P., Yang, E., Holm, I. A., & Peters, J. M. (2018) · Journal of the International Child Neurology Association · doi:10.17724/jicna.2018.100 · Cited by 1

Thanatophoric dysplasia type 1 with temporal lobe dysplasia

Mondal, A., Mandal, B., Das, R., Chatterjee, U., & Mukherjee, S. (2021) · Indian Journal of Pathology and Microbiology · doi:10.4103/ijpm.ijpm_917_20 · Cited by 1

Growth in Thanatophoric Dysplasia

Miller, E., & Widjaja, E. (2011) · Springer eBooks · doi:10.1007/978-1-4419-1795-9_140

Thanatophoric dysplasia Type 1: A rare case of recurrence

Ghanghoriya, P. K., Ghanghoriya, V., Singh, K. N., & Pahariya, R. (2015) · International Journal of Medical Science Research and Practice

Cerebellar Developmental Disorders and Cerebellar Nuclei

Prekop, H.-T., Delogu, A., & Wingate, R. J. T. (2017) · Contemporary clinical neuroscience · doi:10.1007/978-3-319-59749-2_5

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

Mimura, P. M. P., de Castro, J. T. D. S., Jarry, V. D. M., França, M. C., & Reis, F. (2021) · Arquivos de Neuro-Psiquiatria · doi:10.1590/0004-282x-anp-2020-0424

Congenital Anomalies

Varner, M. W., & Byrne, J. L. B. (2011) · Wiley eBooks · doi:10.1002/9781444398038.ch11

Development of Cerebellar Nuclei

Elsen, G. E., Juric‐Sekhar, G., Daza, R. A. M., & Hevner, R. F. (2019) · Springer eBooks · doi:10.1007/978-3-319-97911-3_10-2

Malformations

(2008) · Springer eBooks · doi:10.1007/978-4-431-49898-8_2

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

Itoh, K., Pooh, R. K., Kanemura, Y., Yamasaki, M., & Fushiki, S. (2013) · Neuropathology · doi:10.1111/neup.12036 · Cited by 22

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

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

Krawitz, S., & Bigio, M. R. D. (2019) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/cjn.2019.262

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

Pooh, R. K. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.15500

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Rousseau, F., Saugier-Véber, P., Merrer, M. F. L., Münnich, A., Delezoide, A., MAROTEAUX, P., Bonaventure, J., Narcy, F., & Sanak, M. (1995) · Nature Genetics · doi:10.1038/ng0595-11 · Cited by 199