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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.
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.
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA. Enerbäck S, et al. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14. J Am Soc Nephrol. 2018. PMID: 29242249 Free PMC article.
Integrating diffusion kurtosis imaging, dynamic susceptibility-weighted contrast-enhanced MRI, and short echo time chemical shift imaging for grading gliomas.
Van Cauter S, De Keyzer F, Sima DM, Sava AC, D'Arco F, Veraart J, Peeters RR, Leemans A, Van Gool S, Wilms G, Demaerel P, Van Huffel S, Sunaert S, Himmelreich U. Van Cauter S, et al. Neuro Oncol. 2014 Jul;16(7):1010-21. doi: 10.1093/neuonc/not304. Neuro Oncol. 2014. PMID: 24470551 Free PMC article.
136 results