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Gene, ISSN 0378-1119, 04/2014, Volume 539, Issue 1, pp. 168 - 172
We report a 20-month-old girl ascertained at the age of 11 months for developmental delay. She presented with hypotonia and delayed motor development. The... 
DPP4 | PSMD14 | KCNH7 | SLC4A10 | TBR1 | FIGN | 2q24.2q24.3 deletion | Developmental delay
Journal Article
Journal Article
by Jones, David T. W and Jäger, Natalie and Kool, Marcel and Zichner, Thomas and Hutter, Barbara and Sultan, Marc and Cho, Yoon-Jae and Pugh, Trevor J and Hovestadt, Volker and Stütz, Aian M and Rausch, Tobias and Warnatz, Hans-Jörg and Ryzhova, Marina and Bender, Sebastian and Sturm, Dominik and Pleier, Sabrina and Cin, Huriye and Pfaff, Elke and Sieber, Laura and Wittmann, Anea and Remke, Marc and Witt, Henik and Hutter, Sonja and Tzaridis, Theophilos and Weischenfeldt, Joachim and Raeder, Benjamin and Avci, Meryem and Amstislavskiy, Vyacheslav and Zapatka, Marc and Weber, Ursula D and Wang, Qi and Lasitschka, Bärbel and Bartholomae, Cynthia C and Schmidt, Manfred and von Kalle, Christof and Ast, Volker and Lawerenz, Chris and Eils, Jürgen and Kabbe, Rolf and Benes, Vladimir and van Sluis, Peter and Koster, Jan and Volckmann, Richard and Shih, David and Betts, Matthew J and Russell, Robert B and Coco, Simona and Tonini, Gian Paolo and Schüller, Ulrich and Hans, Volkmar and Graf, Norbert and Kim, Yoo-Jin and Monoranu, Camelia and Roggendorf, Wolfgang and Unterberg, Aneas and Herold-Mende, Christel and Milde, Till and Kulozik, Aneas E and von Deimling, Aneas and Witt, Olaf and Maass, Eberhard and Rössler, Jochen and Ebinger, Martin and Schuhmann, Martin U and Frühwald, Michael C and Hasselblatt, Martin and Jabado, Nada and Rutkowski, Stefan and von Bueren, Ané O and Williamson, Dan and Clifford, Steven C and McCabe, Martin G and Collins, V. Peter and Wolf, Stephan and Wiemann, Stefan and Lehrach, Hans and Brors, Benedikt and Scheurlen, Wolfram and Felsberg, Jörg and Reifenberger, Guido and Northcott, Paul A and Taylor, Michael D and Meyerson, Matthew and Pomeroy, Scott L and Yaspo, Marie-Laure and Korbel, Jan O and Korshunov, Aney and Eils, Roland and Pfister, Stefan M and Lichter, Peter
Nature, ISSN 0028-0836, 2012, Volume 488, Issue 7409, pp. 100 - 105
Medulloblastoma is an aggressively growing tumour, arising in the cerebellum or medulla/brain stem. It is the most common malignant brain tumour in children,... 
ACTIVATION | PATHWAY | LANDSCAPE | MULTIDISCIPLINARY SCIENCES | GENES | TETRAPLOID TUMOR-CELLS | TBR1 | MUTATIONS | SUBGROUPS | CANCER | Chromatin - metabolism | Cerebellar Neoplasms - diagnosis | Genomics | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Histone Demethylases - genetics | Aging - genetics | Medulloblastoma - pathology | Cerebellar Neoplasms - pathology | Patched Receptors | Cerebellar Neoplasms - classification | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DNA Helicases - genetics | Amino Acid Sequence | Polyploidy | Signal Transduction | Chromosomes, Human - genetics | Medulloblastoma - diagnosis | Mutation Rate | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | T-Box Domain Proteins - genetics | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Phosphoprotein Phosphatases - genetics | Sequence Analysis, RNA | Cell Transformation, Neoplastic | Oncogene Proteins, Fusion - genetics | High-Throughput Nucleotide Sequencing | Methylation | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Medulloblastoma | Physiological aspects | Development and progression | Genetic aspects | Research | Metastasis | Cancer
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 10/2019, Volume 27, Issue 10, pp. 1519 - 1531
In clinical exome sequencing (cES), the American College of Medical Genetics and Genomics recommends limiting variant interpretation to established... 
INTELLECTUAL DISABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | TBR1 | SPECTRUM | EPILEPTIC ENCEPHALOPATHY | TRUNCATING MUTATIONS | ONSET | PREDICTION | Phenotypes | Disease | Congenital defects | Genomics
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 11/2012, Volume 32, Issue 47, pp. 16651 - 16665
The generation and specification of pyramidal neuron subpopulations during development relies on a complex network of transcription factors. The CB1... 
PYRAMIDAL NEURONS | ORIGIN | SUBTYPES | ENDOCANNABINOID SYSTEM | MICE | TBR1 | PROLIFERATION | SPECIFICATION | FEZF2 | NEUROSCIENCES | PLASTICITY
Journal Article
Neuroscience, ISSN 0306-4522, 08/2019, Volume 413, pp. 230 - 238
Radial glial maintenance is essential for the proper development of the cortex. It is known that the evolutionarily conserved Notch signaling pathway is... 
Alagille Syndrome | Tbr2 | Pax6 | Tbr1 | Corticogenesis | Notch | PROGENITOR CELLS | SUBVENTRICULAR ZONE | NEUROSCIENCES | DIVISION | NEURAL STEM-CELLS | GENE | PATHWAY | BIOLOGY | NEURONS | DIFFERENTIATION | Medical colleges | Embryonic development | Neurosciences | Stem cells
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 06/2017, Volume 114, Issue 25, pp. E4934 - E4943
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 06/2018, Volume 109, pp. 96 - 100
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental... 
Phenotype | TBR1 | Intellectual disability | Developmental delay | Pathogenic genes | Medical colleges | Medical research | Anopheles | Genetic disorders | Genes | Medicine, Experimental | Single nucleotide polymorphisms
Journal Article
by Song, JJ and Yang, XJ and Zhou, Y and Chen, L and Zhang, X and Liu, ZX and Niu, WB and Zhan, NP and Fan, XL and Khan, AA and Kuang, YF and Song, LL and He, G and Li, WD
MOLECULAR BRAIN, ISSN 1756-6606, 11/2019, Volume 12, Issue 1, pp. 1 - 12
Autism spectrum disorder (ASD) is a heterogeneous group of complex neurodevelopmental disorders without a unique or definite underlying pathogenesis. Although... 
TALENTS | PERSPECTIVE | Neurons | SPECTRUM DISORDER | TBR1 | PAX6 | PREVALENCE | SPEECH | NEUROSCIENCES | FOXP2 | Autistic savant | PLURIPOTENT STEM-CELLS | GENES | Human induced pluripotent stem cells | GENERATION
Journal Article
JOURNAL OF NEUROCHEMISTRY, ISSN 0022-3042, 05/2014, Volume 129, Issue 4, pp. 637 - 648
During corticogenesis, the endocannabinoid system plays an important role in neural progenitor proliferation, specification, neuronal migration, and... 
CELLS | PROTEIN | cannabinoid | BIOCHEMISTRY & MOLECULAR BIOLOGY | TBR1 | SPECIFICATION | RELEASE | RADIAL GLIA | NEUROSCIENCES | prenatal exposure | MEMORY | CB1 receptor | developing cerebral cortex | DIFFERENTIATION | BRAIN | post-mitotic migrating neurons
Journal Article
Psychoneuroendocrinology, ISSN 0306-4530, 10/2018, Volume 96, pp. 132 - 141
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2012, Volume 109, Issue 47, pp. 19071 - 19078
Neurons within each layer in the mammalian cortex have Stereotypic projections. Four genes—Fezf2, Ctip2, Tbr1, and Satb2—regulate these projection identities.... 
Axons | Brain | Mesencephalon | Neurons | Thalamus | Genetic loci | Gene expression regulation | Pyramidal tracts | Repression | Identity | Cerebral cortex | Cell fate | Axon guidance | Transcription factor | transcription factor | CALLOSAL | cell fate | MULTIDISCIPLINARY SCIENCES | AUTISM SPECTRUM DISORDER | TBR1 | GUIDANCE | SPECIFICATION | DEVELOPING CEREBRAL-CORTEX | cerebral cortex | NEURON IDENTITY | CORTICOSPINAL TRACT | NETRIN-1 | DIFFERENTIATION | axon guidance | Axons - enzymology | Thalamus - metabolism | Alkaline Phosphatase - metabolism | Genetic Loci - genetics | Receptor, EphA4 - metabolism | Gene Regulatory Networks | Cerebral Cortex - metabolism | DNA-Binding Proteins - metabolism | Neocortex - metabolism | Basic Helix-Loop-Helix Transcription Factors - metabolism | Gene Expression Regulation, Developmental | Isoenzymes - metabolism | Cell Adhesion Molecules, Neuronal - metabolism | Neurons - metabolism | Netrin Receptors | Repressor Proteins - metabolism | Tumor Suppressor Proteins - metabolism | Neocortex - growth & development | Receptors, Cell Surface - metabolism | Repressor Proteins - genetics | Nuclear Proteins - metabolism | DNA-Binding Proteins - genetics | Mutation - genetics | GPI-Linked Proteins - metabolism | Nerve Tissue Proteins - metabolism | Animals | Protein Binding | Mice | Physiological aspects | Genetic aspects | Gene mutations | Neocortex | Biological Sciences
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2012, Volume 3, Issue 3, pp. 102 - 112
TBR1 encodes a transcription factor with critical roles in corticogenesis, including cortical neuron migration and axon pathfinding, establishment of regional... 
Original Article | Microdeletion | 2q24 | Cortical development | TBR1 | aCGH | Original
Journal Article