Below are the most recent publications written about "Nervous System Malformations" by people in Profiles.
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Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. J Med Genet. 2021 10; 58(10):712-716.
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Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68.
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Halperin JJ. Nervous System Abnormalities and Legionnaire's Disease. Infect Dis Clin North Am. 2017 03; 31(1):55-68.
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Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. Am J Med Genet A. 2016 Nov; 170(11):3048-3050.
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Lyons K, Cassady C, Jones J, Paldino M, Mehollin-Ray A, Guimaraes C, Krishnamurthy R. Current Role of Fetal Magnetic Resonance Imaging in Neurologic Anomalies. Semin Ultrasound CT MR. 2015 Aug; 36(4):298-309.
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Imamoglu EY, Gursoy T, Ovali F, Hayran M, Karatekin G. Nomograms of cerebellar vermis height and transverse cerebellar diameter in appropriate-for-gestational-age neonates. Early Hum Dev. 2013 Dec; 89(12):919-23.
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Kim SH, Choi HY, So JH, Kim CH, Ho SY, Frank M, Li Q, Uitto J. Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes. Matrix Biol. 2010 Sep; 29(7):629-37.
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Nagaraj K, Kristiansen LV, Skrzynski A, Castiella C, Garcia-Alonso L, Hortsch M. Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR. Hum Mol Genet. 2009 Oct 15; 18(20):3822-31.
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Lu JQ, Scheithauer BW, Sharma P, Scott JN, Parney IF, Hader W, Burger PC, Clark AW. Multifocal complex glioneuronal tumor in an elderly man: an autopsy study: case report. Neurosurgery. 2009 Jun; 64(6):E1193-5; discussion E1195.
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Jensen P, Smeyne R, Goldowitz D. Analysis of cerebellar development in math1 null embryos and chimeras. J Neurosci. 2004 Mar 3; 24(9):2202-11.