Dobyns WB - Search Results

1

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.

2

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Ramocki MB, et al. Among authors: dobyns wb. Eur J Hum Genet. 2003 Jul;11(7):527-34. doi: 10.1038/sj.ejhg.5200995. Eur J Hum Genet. 2003. PMID: 12825074

3

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

4

Genetic links between brain development and brain evolution.

Gilbert SL, Dobyns WB, Lahn BT. Gilbert SL, et al. Among authors: dobyns wb. Nat Rev Genet. 2005 Jul;6(7):581-90. doi: 10.1038/nrg1634. Nat Rev Genet. 2005. PMID: 15951746 Review.

5

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Boland E, et al. Among authors: dobyns wb. Am J Hum Genet. 2007 Aug;81(2):292-303. doi: 10.1086/519999. Epub 2007 Jun 13. Am J Hum Genet. 2007. PMID: 17668379 Free PMC article.

6

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

7

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.

8

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.

9

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Rajab A, et al. Among authors: dobyns wb. Am J Med Genet A. 2009 Feb;149A(2):129-37. doi: 10.1002/ajmg.a.32630. Am J Med Genet A. 2009. PMID: 19161147 Free PMC article.

10

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K. Najm J, et al. Among authors: dobyns wb. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194. Nat Genet. 2008. PMID: 19165920

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