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1. Full Text Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
by Edwards, Timothy J and Sherr, Elliott H and Barkovich, A. James and Richards, Linda J
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1579 - 1613
Individuals with corpus callosum malformations are phenotypically diverse, and often present with broad neurodevelopmental disorders. Edwards et al. review the... 
neurogenesis | midline patterning | corpus callosum | axon guidance | neuronal specification | MOSAIC TETRASOMY 8P | LEMLI-OPITZ-SYNDROME | CINGULATE PIONEERING AXONS | DEVELOPING CEREBRAL-CORTEX | NEUROSCIENCES | CLINICAL NEUROLOGY | CAUSE CRANIOFRONTONASAL SYNDROME | CONGENITAL MIRROR MOVEMENTS | CHUDLEY-MCCULLOUGH SYNDROME | 1P36 DELETION SYNDROME | X-LINKED HYDROCEPHALUS | SUBCORTICAL PROJECTION NEURONS | Genetic Predisposition to Disease - genetics | Animals | Agenesis of Corpus Callosum - genetics | Corpus Callosum - pathology | Humans | Agenesis of Corpus Callosum - physiopathology | Corpus Callosum - growth & development | Mutation - genetics | Disease Models, Animal | Review
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2. Full Text Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
by Marsh, Ashley P. L and Heron, Delphine and Edwards, Timothy J and Quartier, Angélique and Galea, Charles and Nava, Caroline and Rastetter, Agnès and Moutard, Marie-Laure and Anderson, Vicki and Bitoun, Pierre and Bunt, Jens and Faudet, Anne and Garel, Catherine and Gillies, Greta and Gobius, Ilan and Guegan, Justine and Heide, Solveig and Keren, Boris and Lesne, Fabien and Lukic, Vesna and Mandelstam, Simone A and McGillivray, George and McIlroy, Alissandra and Méneret, Aurélie and Mignot, Cyril and Morcom, Laura R and Odent, Sylvie and Paolino, Annalisa and Pope, Kate and Riant, Florence and Robinson, Gail A and Spencer-Smith, Megan and Srour, Myriam and Stephenson, Sarah E. M and Tankard, Rick and Trouillard, Oriane and Welniarz, Quentin and Wood, Amanda and Brice, Alexis and Rouleau, Guy and Attié-Bitach, Tania and Delatycki, Martin B and Mandel, Jean-Louis and Amor, David J and Roze, Emmanuel and Piton, Amélie and Bahlo, Melanie and Billette De Villemeur, Thierry and Sherr, Elliott H and Leventer, Richard J and Richards, Linda J and Lockhart, Paul J and Depienne, Christel
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 511 - 514
Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five... 
PROJECTION | CONGENITAL MIRROR MOVEMENTS | RAD51 | GENE | MRI | GENETICS & HEREDITY | NETRIN-1 | SPHERICAL DECONVOLUTION | ELECTROSTATICS | DCC Receptor | Humans | Male | Penetrance | Developmental Disabilities - genetics | Mutation - genetics | Neural Stem Cells - pathology | Phenotype | Agenesis of Corpus Callosum - genetics | Corpus Callosum - pathology | Tumor Suppressor Proteins - genetics | Brain - pathology | Family | Female | Nervous System Malformations - genetics | Abnormalities, Multiple - genetics | Receptors, Cell Surface - genetics | Development and progression | Agenesis | Genetic aspects | Gene mutations | Health aspects | Brain diseases | Studies | Proteins | Brain research | Gender differences | Genomes | Mutation | Grants | Males | Females | Life Sciences | Genetics
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3. Full Text Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
by Halgren, C and Kjaergaard, S and Bak, M and Hansen, C and El‐Schich, Z and Anderson, CM and Henriksen, KF and Hjalgrim, H and Kirchhoff, M and Bijlsma, EK and Nielsen, M and den Hollander, NS and Ruivenkamp, CAL and Isidor, B and Le Caignec, C and Zannolli, R and Mucciolo, M and Renieri, A and Mari, F and Anderlid, B‐M and Andrieux, J and Dieux, A and Tommerup, N and Bache, I and Malmö University and Faculty of Health and Society
Clinical Genetics, ISSN 0009-9163, 09/2012, Volume 82, Issue 3, pp. 248 - 255
Halgren C, Kjaergaard S, Bak M, Hansen C, El‐Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp... 
translocation | corpus callosum | next‐generation mate‐pair sequencing | autism spectrum disorder | ARID1B | speech impairment | intellectual disability | chromosome 6q25 | Translocation | Speech impairment | Intellectual disability | Next-generation mate-pair sequencing | Chromosome 6q25 | Autism spectrum disorder | Corpus callosum | MICRODELETION SYNDROME | INTERSTITIAL DELETION | REGION | GENE | AGENESIS | GENETICS & HEREDITY | next-generation mate-pair sequencing | Autistic Disorder - genetics | Humans | Middle Aged | Speech Disorders - genetics | Child, Preschool | Male | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Haploinsufficiency | Intellectual Disability - genetics | Agenesis of Corpus Callosum - genetics | Adult | Abnormalities, Multiple - genetics | Autism | Care and treatment | Anopheles | Analysis | Nurses | Universities and colleges | Speech disorders | Disability | Brain | Genetics | Speech | Medical disorders | Short Reports | MEDICIN | MEDICINE
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4. Full Text Gli3 controls corpus callosum formation by positioning midline guideposts during telencephalic patterning
by Magnani, Dario and Hasenpusch-Theil, Kerstin and Benadiba, Carine and Yu, Tian and Basson, M. Albert and Price, David J and Lebrand, Cécile and Theil, Thomas
Cerebral Cortex, ISSN 1047-3211, 01/2014, Volume 24, Issue 1, pp. 186 - 198
The corpus callosum (CC) represents the major forebrain commissure connecting the 2 cerebral hemispheres. Midline crossing of callosal axons is controlled by... 
Fgf8 | Slit2 | Pdn | Corpus callosum | Gli3 | FOREBRAIN DEVELOPMENT | EMBRYONIC CEREBRAL-CORTEX | BRAIN-DEVELOPMENT | CINGULATE PIONEERING AXONS | SPROUTY GENES | NEUROSCIENCES | MOUSE EMBRYO | WNT GENES | GENE-EXPRESSION | corpus callosum | DORSAL TELENCEPHALON | CELL-TYPES | Immunohistochemistry | Zinc Finger Protein Gli3 | Wnt Signaling Pathway - physiology | Intercellular Signaling Peptides and Proteins - biosynthesis | Brain - growth & development | Intercellular Signaling Peptides and Proteins - physiology | Mutation - physiology | In Situ Hybridization | Telencephalon - growth & development | Agenesis of Corpus Callosum - genetics | Up-Regulation - physiology | Nerve Tissue Proteins - biosynthesis | Female | beta Catenin - physiology | Real-Time Polymerase Chain Reaction | Organ Culture Techniques | Nerve Tissue Proteins - physiology | Polydactyly - genetics | Kruppel-Like Transcription Factors - physiology | Agenesis of Corpus Callosum - physiopathology | Telencephalon - embryology | Nerve Tissue Proteins - genetics | Pregnancy | Corpus Callosum - embryology | Animals | Corpus Callosum - growth & development | Mice | Receptors, Fibroblast Growth Factor - physiology | Kruppel-Like Transcription Factors - genetics | Cluster Analysis
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5. Full Text Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly – A case report
by Westphal, Dominik S and Andres, Stephanie and Beitzel, Kirsten I and Makowski, Christine and Meitinger, Thomas and Hoefele, Julia
Gene, ISSN 0378-1119, 06/2017, Volume 616, pp. 41 - 44
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum,... 
1q44 deletion | Seizure | Intellectual disability | Hypogenesis of corpus callosum | PROTEIN | ABNORMALITIES | CANDIDATE GENES | 1Q43Q44 | BOY | MB DELETION | AGENESIS | AKT3 | GENETICS & HEREDITY | BRAIN | CRITICAL REGION | Sequence Deletion | Microcephaly - genetics | Seizures - genetics | Oligonucleotide Array Sequence Analysis | Agenesis of Corpus Callosum - genetics | Humans | Repressor Proteins - genetics | Female | Infant | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 1 - genetics | Congenital heart disease | Genetic disorders | Seizures (Medicine) | Analysis | Single nucleotide polymorphisms
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6. Full Text Corpus callosum abnormalities: neuroradiological and clinical correlations
by Al‐Hashim, Aqeela H and Blaser, Susan and Raybaud, Charles and MacGregor, Daune
Developmental Medicine & Child Neurology, ISSN 0012-1622, 05/2016, Volume 58, Issue 5, pp. 475 - 484
Aim To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and... 
DYSGENESIS | PEDIATRICS | SERIES | CLINICAL NEUROLOGY | AGENESIS | CHILDREN | Congenital Abnormalities - epidemiology | Humans | Child, Preschool | Agenesis of Corpus Callosum - epidemiology | Infant | Male | Neurodevelopmental Disorders - genetics | Congenital Abnormalities - diagnosis | Congenital Abnormalities - genetics | Agenesis of Corpus Callosum - genetics | Abnormalities, Multiple - epidemiology | Female | Retrospective Studies | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Neurodevelopmental Disorders - epidemiology | Agenesis of Corpus Callosum - classification | Comorbidity | Agenesis of Corpus Callosum - diagnostic imaging | Abnormalities, Multiple - diagnosis | Adolescent | Ontario - epidemiology | Cohort Studies | Neurodevelopmental Disorders - diagnosis
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7. Full Text The wide spectrum of tubulinopathies: What are the key features for the diagnosis?
by Bahi-Buisson, Nadia and Poirier, Karine and Fourniol, Franck and Saillour, Yoann and Valence, Stéphanie and Lebrun, Nicolas and Hully, Marie and Bianco, Catherine Fallet and Boddaert, Nathalie and Elie, Caroline and Lascelles, Karine and Souville, Isabelle and Beldjord, Cherif and Chelly, Jamel and LIS-Tubulinopathies Consortium
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1676 - 1700
Complex cortical malformations associated with mutations in tubulin genes, or 'tubulinopathies', are a heterogeneous group of disorders. Bahi-Buisson et al.... 
microcephaly | tubulin | polymicrogyria | lissencephaly | microlissencephaly | pachygyria | NEURONAL MIGRATION | TUBA1A MUTATION | PHENOTYPE | GENETIC CLASSIFICATION | CORTICAL DEVELOPMENT | ASYMMETRICAL POLYMICROGYRIA | NEUROSCIENCES | CLINICAL NEUROLOGY | TUBB2B | ALPHA-BETA-TUBULIN | MALFORMATIONS | BRAIN | Agenesis of Corpus Callosum - diagnosis | Lissencephaly - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Agenesis of Corpus Callosum - epidemiology | Infant | Male | Tubulin - genetics | Developmental Disabilities - genetics | Cerebellum - abnormalities | Microcephaly - epidemiology | Young Adult | Malformations of Cortical Development - diagnosis | Agenesis of Corpus Callosum - genetics | Adult | Female | Nervous System Malformations - genetics | Child | Developmental Disabilities - diagnosis | Lissencephaly - epidemiology | Microcephaly - diagnosis | Mutation - genetics | Nervous System Malformations - epidemiology | Developmental Disabilities - epidemiology | Phenotype | Malformations of Cortical Development - epidemiology | Adolescent | Nervous System Malformations - diagnosis
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8. Full Text Agenesis of the corpus callosum: A clinical approach to diagnosis
by Palmer, Elizabeth Emma and Mowat, David
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 184 - 197
This review article aims to guide the clinician in establishing a diagnosis in patients with agenesis of the corpus callosum (ACC), presenting antenatally or... 
genetic counseling | postnatal | clinical | genetics | prenatal | review | agenesis of the corpus callosum | Prenatal | Genetic counseling | Postnatal | Agenesis of the corpus callosum | Clinical | Genetics | Review | POPULATION | MICROARRAY | CHILDREN | C12ORF57 | GENETICS & HEREDITY | DYSGENESIS | Agenesis of Corpus Callosum - diagnosis | Animals | Agenesis of Corpus Callosum - genetics | Humans | Prenatal Diagnosis | Genetic Counseling | Practice Guidelines as Topic | Agenesis | Genetic disorders | Algorithms | Medical genetics
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9. Full Text Activating RNAs associate with Mediator to enhance chromatin architecture and transcription
by Lai, Fan and Orom, Ulf A and Cesaroni, Matteo and Beringer, Malte and Taatjes, Dylan J and Blobel, Gerd A and Shiekhattar, Ramin
Nature, ISSN 0028-0836, 02/2013, Volume 494, Issue 7438, pp. 497 - 501
Recent advances in genomic research have revealed the existence of a large number of transcripts devoid of protein-coding potential in multiple organisms(1-8).... 
MED12 | COMPLEX | OPITZ-KAVEGGIA-SYNDROME | LONG NONCODING RNAS | HISTONE H3 | MULTIDISCIPLINARY SCIENCES | MUTATION | GENE-EXPRESSION | IDENTIFICATION | GENOME | Constipation - genetics | Chromatin - metabolism | RNA-Binding Proteins - genetics | Mediator Complex - metabolism | Humans | Molecular Conformation | Protein Subunits - metabolism | Gene Knockdown Techniques | Mental Retardation, X-Linked - genetics | Mediator Complex - chemistry | Agenesis of Corpus Callosum - genetics | Chromatin - chemistry | Protein Subunits - genetics | Muscle Hypotonia - genetics | RNA-Binding Proteins - chemistry | Genes, Reporter - genetics | Mediator Complex - genetics | RNA, Long Noncoding - genetics | Muscle Hypotonia - congenital | Anus, Imperforate - genetics | Transcription, Genetic - genetics | Mediator Complex - deficiency | Chromatin - genetics | RNA, Long Noncoding - metabolism | RNA-Binding Proteins - metabolism | RNA | Cellular signal transduction | Genetic transcription | Research | Properties | Observations | Identification and classification | Proteins | RNA polymerase | Architecture | Kinases | Gene expression
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10. Full Text Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
by Edvardson, Simon and Porcelli, Vito and Jalas, Chaim and Soiferman, Devorah and Kellner, Yuval and Shaag, Avraham and Korman, Stanley H and Pierri, Ciro Leonardo and Scarcia, Pasquale and Fraenkel, Nitay D and Segel, Reeval and Schechter, Abraham and Frumkin, Ayala and Pines, Ophry and Saada, Ann and Palmieri, Luigi and Elpeleg, Orly
Journal of Medical Genetics, ISSN 0022-2593, 04/2013, Volume 50, Issue 4, pp. 240 - 245
Background Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the citric acid cycle. We now report... 
OXIDATIVE-PHOSPHORYLATION | COMPLEX | CARRIERS | DEFICIENCY | DISEASE | GENETICS & HEREDITY | Optic Nerve - pathology | Humans | Mitochondrial Proteins - genetics | Agenesis of Corpus Callosum - pathology | Anion Transport Proteins - metabolism | Mitochondrial Diseases | Carrier Proteins - genetics | Carrier Proteins - metabolism | Mitochondria - genetics | Mitochondrial Proteins - metabolism | Agenesis of Corpus Callosum - genetics | Adolescent | Female | Mutation | Anion Transport Proteins - genetics | Optic Nerve - metabolism | Agenesis | Research | Gene mutations | Corpus callosum
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