Below are the most recent publications written about "Agenesis of Corpus Callosum" by people in Profiles.
-
Mubungu G, Makay P, Boujemla B, Yanda S, Posey JE, Lupski JR, Bours V, Lukusa P, Devriendt K, Lumaka A. Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 03; 185(3):990-994.
-
Govil-Dalela T, Kumar A, Agarwal R, Chugani HT. Agenesis of the Corpus Callosum and Aicardi Syndrome: A?Neuroimaging and Clinical Comparison. Pediatr Neurol. 2017 03; 68:44-48.e2.
-
Roxanas MG, Massey JS, Chaganti J. Antisocial behaviour and lying: a neuropsychiatric presentation of agenesis of the corpus callosum. Australas Psychiatry. 2014 Oct; 22(5):461-6.
-
Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat. 2012 Feb; 33(2):364-8.
-
Verbrugge J, Choudhary AK, Ladda R. Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature. Am J Med Genet A. 2009 Oct; 149A(10):2280-4.
-
Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008 Jul 15; 146A(14):1842-7.
-
Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug; 39(8):957-9.
-
Gupta A, Malik GK, Gupta A, Saksena S, Gupta RK. MR demonstration of complete cerebellar and corpus callosum agenesis. Pediatr Neurosurg. 2007; 43(1):29-31.
-
Graham JM, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet A. 2003 Nov 15; 123A(1):37-44.
-
Davatzikos C, Barzi A, Lawrie T, Hoon AH, Melhem ER. Correlation of corpus callosal morphometry with cognitive and motor function in periventricular leukomalacia. Neuropediatrics. 2003 Jun; 34(5):247-52.