Frauenheilkunde up2date, Table of Contents Frauenheilkunde up2date 2012; 6(6): 375-389DOI: 10.1055/s-0032-1324916 Geburtshilfe und Perinatalmedizin Georg Thieme Verlag KG Stuttgart · New York Pränatale genetische Diagnostik bei ZNS-Fehlbildungen C. T. Thiel Recommend Article Abstract Buy Article All articles of this category Full Text References Literatur 1 Hoch RV, Rubenstein JL, Pleasure S. Genes and signalling events that establish regional patterning of the mammalian forebrain. Semin Cell Dev Biol 2009; 20: 378-386 2 Barkovich AJ et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 135: 1348-1369 3 Huang J et al. Molecular genetics in fetal neurology. Semin Fetal Neonatal Med 2012; 17: 341-346 4 Au KS, Ashley-Koch A, Northrup H. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev 2010; 16: 6-15 5 Copp AJ, Greene ND, Murdoch JN. The genetic basis of mammalian neurulation. Nat Rev Genet 2003; 4: 784-793 6 Dolk H et al. Heterogeneity of neural tube defects in Europe: the significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence. Teratology 1991; 44: 547-559 7 Seller MJ, Kalousek DK. Neural tube defects: heterogeneity and homogeneity. Am J Med Genet Suppl 1986; 2: 77-87 8 Stiefel D et al. Tethering of the spinal cord in mouse fetuses and neonates with spina bifida. J Neurosurg 2003; 99: 206-213 9 Sepulveda W et al. Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol 2004; 23: 352-356 10 Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996; 64: 465-472 11 Cohen Jr. MM. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol 2006; 76: 658-673 12 Bellone S et al. Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside. Panminerva Med 2010; 52: 345-354 13 Solomon BD, Gropman A, Muenke M. Holoprosencephaly overview. In: Pagon RA, Bird TD, Dolan CR, et al., eds. Gene Reviews. Seattle: University of Seattle; 1993 14 Dubourg C et al. Holoprosencephaly. Orphanet J Rare Dis 2007; 2: 8 15 Lynn RB et al. Agenesis of the corpus callosum. Arch Neurol 1980; 37: 444-445 16 Volpe P et al. Characteristics, associations, and outcome of partial agenesis of the corpus callosum in the fetus. Ultrasound Obstet Gynecol 2006; 27: 509-516 17 Fratelli N et al. Outcome of prenatally diagnosed agenesis of the corpus callosum. Prenat Diagn 2007; 27: 512-517 18 Verrotti A et al. New trends in neuronal migration disorders. Eur J Paediatr Neurol 2010; 14: 1-12 19 Giannopoulos S et al. Periventricular nodular heterotopia and epilepsy. Intern Med J 2008; 38: 675-676 20 Lu J et al. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol 2006; 494: 476-484 21 Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia 2010; 51 (Suppl. 01) 5-9 22 Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003; 12 Spec No 1: R89-R96 23 Kumar RA et al. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet 2010; 19: 2817-2827 24 Teber S et al. Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. Eur J Paediatr Neurol 2008; 12: 133-136 25 Hong SE et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26: 93-96 26 Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 2008; 10: 47-62 27 Baala L et al. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet 2007; 39: 454-456 28 Ekici AB et al. Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Mol Syndromol 2010; 1: 99-112 29 Grinberg I et al. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet 2004; 36: 1053-1055 30 Zhang J, Williams MA, Rigamonti D. Genetics of human hydrocephalus. J Neurol 2006; 253: 1255-1266
