Recent Publications in Hydrocephalus

Aldinger KA, Lehmann OJ, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB and Millen KJ (2009) FOXC1 is required for normal cerebellar development and is a major contributor to 6p25.3 Dandy-Walker malformation. Nature Genetics 41(9) 1037-42. PMID: 19668217

Barkovich AJ, Guerrini R, KuznieckyRI, Jackson GD, Dobyns WB. (2012) A developmental and genetic classification for malformations of cortical development: update. Brain 2012;135(Pt 5):1348-1369.

Barkovich AJ, Millen KJ and Dobyns WB. A developmental and genetic classification of mid-hindbrain malformations (2009). Brain. 132(Pt 12):3199-230. PMID: 19933510

Basel-Vanagaite L, Raas-Rotchild A, Kornreich L, Har-Zahav A, Yeshaya J, Latarowski V, Lerer I, Dobyns WB, Shohat M. (2010)  Familial hydrocephalus with normal cognition and distinctive radiological features. Am J Med Genet A;152A(11):2743-8.

Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB. (2009) Significant overlap and possible identify of macrocephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromes. Am J Med Genet A;149A(5):868-876.

Harris C, McAllister JI. (2012)  What we should know about the cellular and tissue response causing catheter obstruction in the treatment of hydrocephalus. Neurosurgery; 70:1589-602.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D.  (2012)  Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain;135(Pt 5):1370-86.

Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, Devries LS, Lev D, Kramer N, HopkinsE, Graham JM, Jr., Dobyns WB. (2012) Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A; 158A: 269-91.

Rivière JB, van Bon BWM, Hoischen A, Kholmanskikh SS, O’Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns J-P, Gripp KW, Kempers M, Kleefstra T, Mancini GMS, Nowaczyk MJM, van Ravenswaaij-Arts CMA, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BBA, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. (2012) De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet;44(4):440-444, S441-442.

Verkerk AJMH, Schot R, van Waterschoot L, Douben H, Poddighe PJ, LequinMH, de Vries LS, Terhal P, Hahnemann JMD, de Coo IFM, de Wit M-CY, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GMS. (2010). Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A 152A:1488-1497.

O’Neill BR, Pruthi S, Bains H, Robison R, Weir K, Ojemann J, Ellenbogen R, Avellino A, Browd SR. Rapid Sequence Magnetic Resonance Imaging in the Assessment of Children with Hydrocephalus. World Neurosurg. 2012 Oct 27.

 

Nieman BJ, Blank MC, Roman BB, Henkelman RM, Millen KJ. If the skull fits: magnetic resonance imaging and microcomputed tomography for combined analysis of brain and skull phenotypes in the mouse. Physiol Genomics. 2012 Oct 17;44(20):992-1002.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJM, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M, FORGE Canada Consortium, Triggs-Raine B, Zelinski T. GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome. American Journal of Human Genetics (2012) 90(6):1-6.

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