Dobyns WB - Search Results

1

Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.

French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ. French CR, et al. Among authors: dobyns wb. J Clin Invest. 2014 Nov;124(11):4877-81. doi: 10.1172/JCI75109. Epub 2014 Sep 24. J Clin Invest. 2014. PMID: 25250569 Free PMC article.

2

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Grinberg I, et al. Among authors: dobyns wb. Nat Genet. 2004 Oct;36(10):1053-5. doi: 10.1038/ng1420. Epub 2004 Aug 29. Nat Genet. 2004. PMID: 15338008

3

A developmental classification of malformations of the brainstem.

Barkovich AJ, Millen KJ, Dobyns WB. Barkovich AJ, et al. Among authors: dobyns wb. Ann Neurol. 2007 Dec;62(6):625-39. doi: 10.1002/ana.21239. Ann Neurol. 2007. PMID: 17924529

4

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ. Chanda B, et al. Among authors: dobyns wb. Hum Mol Genet. 2008 Nov 15;17(22):3446-58. doi: 10.1093/hmg/ddn238. Epub 2008 Aug 11. Hum Mol Genet. 2008. PMID: 18694899 Free PMC article.

5

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. Aldinger KA, et al. Among authors: dobyns wb. Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668217 Free PMC article.

6

A developmental and genetic classification for midbrain-hindbrain malformations.

Barkovich AJ, Millen KJ, Dobyns WB. Barkovich AJ, et al. Among authors: dobyns wb. Brain. 2009 Dec;132(Pt 12):3199-230. doi: 10.1093/brain/awp247. Brain. 2009. PMID: 19933510 Free PMC article. Review.

7

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. Mirzaa GM, et al. Among authors: dobyns wb. Am J Med Genet A. 2014 Jun;164A(6):1503-11. doi: 10.1002/ajmg.a.36517. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700709 Free PMC article.

8

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.

Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ. Roy A, et al. Among authors: dobyns wb. Elife. 2015 Dec 3;4:e12703. doi: 10.7554/eLife.12703. Elife. 2015. PMID: 26633882 Free PMC article.

9

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Haldipur P, et al. Among authors: dobyns wb. Elife. 2017 Jan 16;6:e20898. doi: 10.7554/eLife.20898. Elife. 2017. PMID: 28092268 Free PMC article.

10

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: dobyns wb. 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.

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