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American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2393 - 2406
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently... 
congenital triangular alopecia | aventriculy | VACTERL | holoprosencephaly | developmental field defect | rhombencephalosynapsis | Gómez‐López‐Hernández syndrome | Developmental field defect | Aventriculy | Rhombencephalosynapsis | Gómez-López-Hernández syndrome | Congenital triangular alopecia | Holoprosencephaly | DEFECTS | FUSION | HYDROCEPHALUS | ANOMALIES | AUTOSOMAL RECESSIVE INHERITANCE | BLASTOGENESIS | Gomez-Lopez-Hernandez syndrome | GENETICS & HEREDITY | MALFORMATION | ASSOCIATION | Abnormalities, Multiple - pathology | Kidney - pathology | Growth Disorders - pathology | Humans | Child, Preschool | Infant | Male | Neurocutaneous Syndromes - pathology | Cerebellum - abnormalities | Spine - abnormalities | Young Adult | Cerebellar Diseases - pathology | Adult | Craniofacial Abnormalities - pathology | Female | Spine - pathology | Anal Canal - pathology | Child | Infant, Newborn | Trachea - abnormalities | Rhombencephalon - abnormalities | Heart Defects, Congenital - pathology | Holoprosencephaly - pathology | Esophagus - abnormalities | Alopecia - pathology | Cerebellum - pathology | Anal Canal - abnormalities | Trachea - pathology | Esophagus - pathology | Phenotype | Kidney - abnormalities | Adolescent | Limb Deformities, Congenital - pathology | Rhombencephalon - pathology | Developmental Field Defect | Congenital Triangular Alopecia
Journal Article
Journal of Neurosurgery, ISSN 0022-3085, 12/2014, Volume 121, Issue 6, pp. 1342 - 1350
Object. With the recent increasing interest in outcomes after repetitive mild traumatic brain injury (rmTBI; e.g., sports concussions), several models of rmTBI... 
CTE = chronic traumatic encephalopathy | MWM = Morris water maze | Gliosis | Traumatic brain injury | Concussion | ROI = region of interest | Closed head injury | rmTBI = repetitive mild traumatic brain injury | Behavior | LOC = loss of consciousness | SURGERY | closed head injury | HEAD-INJURY | HYPERACTIVITY | PERFORMANCE | traumatic brain injury | COGNITIVE IMPAIRMENT | RECOVERY-TIME | NCAA CONCUSSION | CLINICAL NEUROLOGY | ENCEPHALOPATHY | COLLEGIATE FOOTBALL PLAYERS | MOUSE MODEL | POSTURAL STABILITY | concussion | gliosis | behavior | Motor Activity - physiology | Radius - pathology | Brain Concussion - pathology | Brain Concussion - physiopathology | Astrocytes - pathology | Lung - abnormalities | Male | Gliosis - physiopathology | Microphthalmos - pathology | Spatial Learning - physiology | Gliosis - pathology | Hamartoma - pathology | Exploratory Behavior - physiology | Gliosis - etiology | Unconsciousness - etiology | Disease Models, Animal | Lung - pathology | Maze Learning - physiology | Hypothalamic Diseases - pathology | Mice, Inbred C57BL | Anxiety - physiopathology | Behavior, Animal - physiology | Brain Concussion - complications | Holoprosencephaly - pathology | Radius - abnormalities | Random Allocation | Trauma Severity Indices | Mullerian Ducts - pathology | Mullerian Ducts - abnormalities | Animals | Unconsciousness - physiopathology | Unconsciousness - pathology | Chronic Disease | Anxiety - etiology | Memory - physiology
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 02/2018, Volume 26, Issue 2, pp. 197 - 209
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2/2009, Volume 117, Issue 2, pp. 185 - 200
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2537 - 2541
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 5, pp. 1370 - 1386
Journal Article
Developmental Cell, ISSN 1534-5807, 08/2008, Volume 15, Issue 2, pp. 236 - 247
Holoprosencephaly (HPE), the most common forebrain malformation, is characterized by an incomplete separation of the cerebral hemispheres. Mutations in the... 
HUMDISEASE | DEVBIO | FGF8 | TELENCEPHALON | MOUSE | MICE | DEVELOPMENTAL BIOLOGY | OPTIC VESICLES | SPECIFICATION | MUTATIONS | ANTERIOR NEURAL PLATE | ROSTRAL PROSENCEPHALON | GENE-FUNCTION | CELL BIOLOGY | Diencephalon - metabolism | Cell Proliferation | Homeodomain Proteins - metabolism | Nerve Tissue Proteins - deficiency | Hedgehog Proteins - metabolism | Zebrafish - embryology | Haploidy | Diencephalon - abnormalities | Somites - embryology | Hedgehog Proteins - genetics | Gene Expression Regulation, Developmental | Body Patterning | Eye Proteins - genetics | Embryo, Mammalian - ultrastructure | Prosencephalon - pathology | Somites - metabolism | Embryo, Mammalian - pathology | Telencephalon - metabolism | Signal Transduction | Embryo, Nonmammalian - pathology | Zebrafish Proteins - metabolism | Mice, Inbred C57BL | Mutant Proteins - metabolism | Holoprosencephaly - pathology | Nerve Tissue Proteins - genetics | Embryo, Mammalian - abnormalities | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Embryo, Nonmammalian - abnormalities | Phenotype | Animals | Eye Proteins - metabolism | Telencephalon - abnormalities | Mice | Zebrafish Proteins - genetics | Prosencephalon - embryology | Apoptosis | Gene mutations | Genetic research | mouse | telencephalon | Shh | holoprosencephaly | zebrafish | Six3
Journal Article
Congenital Anomalies, ISSN 0914-3505, 05/2019, Volume 59, Issue 3, pp. 56 - 73
The eye is a sensory organ that primarily captures light and provides the sense of sight, as well as delivering non‐visual light information involving... 
Peters anomaly | eye development | micropthalmia | Pax6 | holoprosencephaly | HOMEOBOX-CONTAINING GENE | TRANSCRIPTION FACTOR GENE | PHENOTYPIC VARIABILITY | STIMULATORY G-PROTEIN | SOMATIC MOSAICISM | RENAL-COLOBOMA SYNDROME | PEDIATRICS | POLARIZING ACTIVITY | NEURAL CREST | OPTIC-NERVE COLOBOMAS | SONIC-HEDGEHOG | Microphthalmos - genetics | Humans | Coloboma - genetics | Microphthalmos - pathology | Genetic Loci | PAX6 Transcription Factor - genetics | Anophthalmos - genetics | Microphthalmos - diagnosis | Coloboma - pathology | Gene Expression Regulation, Developmental | Eye Proteins - genetics | Eye Abnormalities - diagnosis | Coloboma - diagnosis | Holoprosencephaly - genetics | Holoprosencephaly - pathology | Eye Abnormalities - genetics | Anophthalmos - diagnosis | Gene Editing | Holoprosencephaly - diagnosis | Phenotype | Animals | Eye Abnormalities - pathology | Eye Proteins - classification | Mosaicism | High-Throughput Nucleotide Sequencing | Anophthalmos - pathology | Genome, Human | Eye diseases | Genetic disorders | Gene mutations | Genes | Genomics | Neurophysiology | Brain | Phenotypes | Congenital diseases | Disorders | Genomes | Neurodevelopmental disorders | Holoprosencephaly | Gene sequencing | Eye | Pax6 protein | Eye (anatomy) | Mutation | Anophthalmia | Molecular biology | Human behavior | Microphthalmia | Anomalies
Journal Article