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102 results

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Page 1
Spatiotemporal histogenesis of the developing human cerebellum reveals dynamic layering of Bergmann glia.
He G, Du S, Tan H, Yellampally S, Erickson AW, Fernandez V, Encha-Razavi F, Phillips KA, Haberler C, Amberg N, Borrell V, Northcott PA, Taylor MD, Millen KJ, Haldipur P. He G, et al. Among authors: encha razavi f. Proc Natl Acad Sci U S A. 2026 Feb 17;123(7):e2525673123. doi: 10.1073/pnas.2525673123. Epub 2026 Feb 10. Proc Natl Acad Sci U S A. 2026. PMID: 41665992
Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum.
Erickson AW, Tan H, Hendrikse LD, Millman J, Thomson Z, Golser J, Khan O, He G, Bach K, Mishra AS, Kopic J, Krsnik Z, Encha-Razavi F, Petrilli G, Guimiot F, Silvestri E, Aldinger KA, Taylor MD, Millen KJ, Haldipur P. Erickson AW, et al. Among authors: encha razavi f. Proc Natl Acad Sci U S A. 2025 Apr 29;122(17):e2415425122. doi: 10.1073/pnas.2415425122. Epub 2025 Apr 18. Proc Natl Acad Sci U S A. 2025. PMID: 40249772 Free PMC article.
COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Guterman S, Feresin A, Boutaud L, Jacquin C, Lyonnet S, Bernard JP, Colmant C, Roth P, Bourgon N, Mace P, Thoreau A, Ville Y, Bengoa J, Ait Arkoub Z, Fourrage C, Encha-Razavi F, Bessières B, Attié-Bitach T. Guterman S, et al. Among authors: encha razavi f. Mol Genet Genomic Med. 2025 Apr;13(4):e2442. doi: 10.1002/mgg3.2442. Mol Genet Genomic Med. 2025. PMID: 40213872 Free PMC article. Review.
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A, Roux N, Boutaud L, Lunel E, Hakkakian L, Parisot M, Garfa-Traoré M, Ichkou A, Elkhartoufi N, Bole C, Nitschke P, Amiel J, Martinovic J, Encha-Razavi F, Attié-Bitach T, Thomas S. Tessier A, et al. Among authors: encha razavi f. Acta Neuropathol Commun. 2023 Feb 20;11(1):29. doi: 10.1186/s40478-023-01519-8. Acta Neuropathol Commun. 2023. PMID: 36803301 Free PMC article.
Delineating septo-optic dysplasia.
Lubinsky M, Encha-Razavi F. Lubinsky M, et al. Among authors: encha razavi f. Birth Defects Res. 2022 Dec 1;114(20):1343-1353. doi: 10.1002/bdr2.2095. Epub 2022 Oct 6. Birth Defects Res. 2022. PMID: 36200678 Review.
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Chartier S, et al. Among authors: encha razavi f. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7. Birth Defects Res. 2021. PMID: 34491000
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, Attié-Bitach T. Tessier A, et al. Among authors: encha razavi f. Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14. Clin Genet. 2020. PMID: 32926417
102 results