| 1 | VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. (22095910) | Slavotinek A.M.... Schorderet D.F. | 2012 | VAX2, VAX1 |
| 2 | A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and t hin corpus callosum. (21440262) | Blumkin L.... Leshinsky-Silver E. | 2011 | SPG11 |
| 3 | COMT gene polymorphism and corpus callosum morphometr y in preterm born adults. (20659569) | Dutt A.... Allin M.P. | 2011 | COMT |
| 4 | The desmosterolosis phenotype: spasticity, microcepha ly and micrognathia with agenesis of corpus callosum and loss of white matter. (21559050) | Zolotushko J.... Birk O.S. | 2011 | DHCR24 |
| 5 | Appropriate Bmp7 levels are required for the differen tiation of midline guidepost cells involved in corpus callosum formation. (21485009) | SA!nchez-Camacho C.... Bovolenta P. | 2011 | BMP7 |
| 6 | Expanding the clinical spectrum of SPG11 gene mutatio ns in recessive hereditary spastic paraplegia with thin corpus callosum. (20971220) | Abdel Aleem A.... Zaki M.S. | 2011 | SPG11 |
| 7 | A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisi an family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. (20593214) | Boukhris A.... Stevanin G. | 2010 | SPG46 |
| 8 | White matter integrity in the splenium of the corpus callosum is related to successful cognitive aging and partly mediates the prote ctive effect of an ancestral polymorphism in ADRB2. (20087642) | Penke L.... Deary I.J. | 2010 | ADRB2 |
| 9 | Chromosome 9P deletion: Gonadal dysgenesis associate d with mental retardation and hypoplasia of the corpus callosum: A contiguous g ene syndrome? (20138017) | Climent AlcalA! F.J.... Gracia Bouthelier R. | 2010 | DMRT1 |
| 10 | Deletion of YWHAE in a patient with periventricular h eterotopias and pronounced corpus callosum hypoplasia. (19635726) | Mignon-Ravix C.... Villard L. | 2010 | YWHAE |
| 11 | Four patients with speech delay, seizures and variabl e corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containi ng the HNRPU gene. (20382278) | Caliebe A.... Poot M. | 2010 | HNRNPU |
| 12 | Mutation in the TBCE gene is associated with hypopara thyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficie ncies and hypoplasia of the anterior pituitary and the corpus callosum. (19491227) | Padidela R.... Dattani M.T. | 2009 | TBCE |
| 13 | SPG15 is the second most common cause of hereditary s pastic paraplegia with thin corpus callosum. (19805727) | Goizet C.... Stevanin G. | 2009 | ZFYVE26 |
| 14 | Point mutations and a large intragenic deletion in SP G11 in complicated spastic paraplegia without thin corpus callosum. (19196735) | Crimella C.... Bassi M.T. | 2009 | SPG11 |
| 15 | BDNF Val66Met polymorphism influences age differences in microstructure of the Corpus Callosum. (19738930) | Kennedy K.M.... Raz N. | 2009 | BDNF |
| 16 | Cultured astrocytes derived from corpus callosum or cortical grey matter show distinct glutamate handling properties. (19222709) | Goursaud S.... Hermans E. | 2009 | GRM5 |
| 17 | Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (19084844) | Denora P.S.... Santorelli F.M. | 2009 | ZFYVE26, SPG11 |
| 18 | SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. (19194956) | OrlAcn H.... Dahl N. | 2009 | SPG11 |
| 19 | A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. (18053786) | Andrieux J.... Vallee L. | 2008 | AKT3 |
| 20 | Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. (17993636) | Gururangan S.... Friedman H.S. | 2008 | TCN2 |
| 21 | Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. (18079167) | Stevanin G.... Durr A. | 2008 | SPG11 |
| 22 | Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum. (18361476) | Zhang S.S.... Yang Y. | 2008 | SPG11 |
| 23 | Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. (18332254) | Boukhris A.... Brice A. | 2008 | ZFYVE26, SPG11 |
| 24 | Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum. (18408091) | Lee M.J.... Yang C.C. | 2008 | SPG11 |
| 25 | Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. (18835492) | Liao S.S.... Tang B.S. | 2008 | SPG11 |
| 26 | SPG11 compound mutations in spastic paraparesis with thin corpus callosum. (18663179) | Samaranch L.... Pastor P. | 2008 | SPG11 |
| 27 | Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (17322883) | Stevanin G.... Brice A. | 2007 | SPG11 |
| 28 | Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. (17668379) | Boland E.... Black G.C. | 2007 | AKT3 |
| 29 | X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period (17515135) | Nanba Y.... Ohno K. | 2007 | ARX |
| 30 | Corpus callosum size, reaction time speed and variability in mild cognitive disorders and in a normative sample. (17240409) | Anstey K.J.... Sachdev P. | 2007 | APOE |
| 31 | Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. (17353897) | Baala L.... Lyonnet S. | 2007 | EOMES |
| 32 | Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature. (16102895) | Winner B.... Winkler J. | 2006 | SLC12A6, BSCL2, SPG20 |
| 33 | Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. (16699786) | Stevanin G.... Santorelli F.M. | 2006 | MAP1A, SPG11 |
| 34 | Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. (16705068) | l Kandari H.... Rasoul M.A. | 2006 | CYP11A1 |
| 35 | Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. (16138254) | Brockmann K.... Gartner J. | 2005 | SPG21 |
| 36 | Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. (16009377) | Alber B.... Meyer T. | 2005 | SPAST |
| 37 | Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. (14566414) | Miyata H.... Vinters H.V. | 2004 | DAB1 |
| 38 | Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum. (15065106) | Espinosa-Parrilla Y.... Amiel J. | 2004 | ZEB2 |
| 39 | Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. (12838516) | Dupre N.... Rouleau G.A. | 2003 | SLC12A6 |
| 40 | 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. (14556245) | Graham J.M. Jr.... Cox T.C. | 2003 | IGBP1 |
| 41 | The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. (12368912) | Howard H.C.... Rouleau G.A. | 2002 | SLC12A6 |
| 42 | Atrophy of the corpus callosum associated with a decrease in cortical benzodiazepine receptor in large cerebral arterial occlusive diseases. (10675213) | Yamauchi H.... Shio H. | 2000 | TSPO |
| 43 | Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus. (10805190) | Sztriha L.... Nork M. | 2000 | L1CAM |
| 44 | Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum. (10518556) | das Neves L.... Godinho F. | 1999 | NFIA |
| 45 | X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. (10494089) | Dobyns W.B.... Viskochil D. | 1999 | DCX |
| 46 | CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. (8556302) | Fransen E.... Willems P.J. | 1995 | L1CAM |
| 47 | Neurotransmitter receptors and voltage-dependent Ca2+ channels encoded by mRNA from the adult corpus callosum. (7682696) | Matute C.... Miledi R. | 1993 | GRIA3 |
| 48 | Hereditary Motor and Sensory Neu ropathy with Agenesis of the Corpus Callosum (20301546) | DuprAc N.... Rouleau G.A. | 1993 | SLC12A6 |
| 49 | Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. (6818132) | Ropers H.H.... Tiepolo L. | 1982 | AIC |
