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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K. Whitehead MT, et al. Among authors: millen kj. AJNR Am J Neuroradiol. 2022 Oct;43(10):1488-1493. doi: 10.3174/ajnr.A7659. Epub 2022 Sep 22. AJNR Am J Neuroradiol. 2022. PMID: 36137655 Free PMC article.
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG. Jalali A, et al. Among authors: millen kj. Hum Genet. 2008 Apr;123(3):237-45. doi: 10.1007/s00439-008-0467-y. Epub 2008 Jan 19. Hum Genet. 2008. PMID: 18204864 Free PMC article.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Among authors: millen kj. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
105 results