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Page 1
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard; Engle EC, Verheijen FW, Doherty D, Mancini GMS. Dobyns WB, et al. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471716 Free PMC article.
Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper.
Wright J, Cheung M, Siddiqui A, Lucas J, Calder A, Argyropoulou MI, Arthurs OJ, Caro-Dominguez P, Thompson D, Severino M, D'Arco F; members of the ESPR Neuroradiology Taskforce; members of the ESNR Pediatric Subcommittee. Wright J, et al. Pediatr Radiol. 2023 Nov;53(12):2323-2344. doi: 10.1007/s00247-023-05728-0. Epub 2023 Sep 6. Pediatr Radiol. 2023. PMID: 37674051 Review.
Evaluation of epilepsy lesion visualisation enhancement in low-field MRI using image quality transfer: a preliminary investigation of clinical potential for applications in developing countries.
Figini M, Lin H, D'Arco F, Ogbole G, Rossi-Espagnet MC, Oyinloye OI, Yaria J, Nzeh DA, Atalabi MO, Carmichael DW, Cross JH, Lagunju I, Fernandez-Reyes D, Alexander DC. Figini M, et al. Neuroradiology. 2024 Dec;66(12):2243-2252. doi: 10.1007/s00234-024-03448-2. Epub 2024 Sep 6. Neuroradiology. 2024. PMID: 39240363 Free PMC article.
Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
D'Arco F, Alves CA, Raybaud C, Chong WKK, Ishak GE, Ramji S, Grima M, Barkovich AJ, Ganesan V. D'Arco F, et al. AJNR Am J Neuroradiol. 2018 Nov;39(11):2126-2131. doi: 10.3174/ajnr.A5823. Epub 2018 Sep 27. AJNR Am J Neuroradiol. 2018. PMID: 30262641 Free PMC article.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: d arco f. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L. Elkhateeb N, et al. Clin Genet. 2024 May;105(5):510-522. doi: 10.1111/cge.14481. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221827
156 results