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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 | Index Medicus | Developmental Field Defect | Congenital Triangular Alopecia
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 03/2019, Volume 53, Issue 3, pp. 390 - 395
Objective Prenatal diagnosis of midbrain-hindbrain (MB-HB) malformations relies primarily on abnormal size and shape of the cerebellum and retrocerebellar... 
cerebellar hypoplasia | fetal neurosonography | Joubert syndrome | vermian hypoplasia | brain | fourth ventricle | rhombencephalosynapsis | vermian agenesis | DIAGNOSIS | CEREBELLAR | ABNORMALITIES | NOMOGRAMS | OBSTETRICS & GYNECOLOGY | ACOUSTICS | SAGITTAL CRANIAL PLANE | POSTERIOR-FOSSA | HINDBRAIN | MIDBRAIN | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Prospective Studies | Humans | Kidney Diseases, Cystic - diagnostic imaging | Infant | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Developmental Disabilities - diagnostic imaging | Fourth Ventricle - diagnostic imaging | Developmental Disabilities - pathology | Cerebellum - diagnostic imaging | Cerebellar Diseases - diagnostic imaging | Cerebellar Diseases - pathology | Female | Fetus | Ultrasonography, Prenatal - methods | Retrospective Studies | Rhombencephalon - abnormalities | Cross-Sectional Studies | Cerebellar Diseases - epidemiology | Nervous System Malformations - pathology | Abnormalities, Multiple - diagnostic imaging | Mesencephalon - abnormalities | Gestational Age | Nervous System Malformations - epidemiology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Developmental Disabilities - epidemiology | Pregnancy | Mesencephalon - diagnostic imaging | Retina - diagnostic imaging | Prenatal Diagnosis - standards | Eye Abnormalities - pathology | Fourth Ventricle - anatomy & histology | Retina - abnormalities | Fourth Ventricle - pathology | Rhombencephalon - diagnostic imaging | Retina - pathology | Medicine, Experimental | Medical research | Brain | Pregnant women | Analysis | Cerebellum | Hypoplasia | Neuroimaging | Medical imaging | Mesencephalon | Congenital defects | Fetuses | Ventricles (cerebral) | Neurodevelopmental disorders | Neurology | Prenatal diagnosis | Hindbrain | Diagnosis | Ventricle | Ultrasound | Anomalies | Index Medicus
Journal Article
Acta Neurochirurgica, ISSN 0001-6268, 12/2011, Volume 153, Issue 12, pp. 2365 - 2375
The aim of this study was to evaluate the anatomy of the central myelin portion and the central myelin-peripheral myelin transitional zone of the trigeminal,... 
Cranial nerve vascular compression syndromes | Hemifacial spasm | Neurosurgery | Vago-glossopharyngeal neuralgia | Anatomy | Neuroradiology | Neurology | Surgical Orthopedics | Trigeminal neuralgia | Medicine & Public Health | Minimally Invasive Surgery | Cranial nerves | Interventional Radiology | SURGERY | NEURALGIA | ROOT | DISABLING POSITIONAL VERTIGO | MICROVASCULAR DECOMPRESSION | SELECTION CRITERIA | CLINICAL NEUROLOGY | SEVERE TINNITUS | COCHLEAR NERVE | NEUROVASCULAR CONFLICT | SUPERIOR OBLIQUE MYOKYMIA | Glossopharyngeal Nerve Diseases - epidemiology | Vagus Nerve Diseases - epidemiology | Humans | Glossopharyngeal Nerve - physiology | Male | Vagus Nerve Diseases - physiopathology | Facial Nerve - physiology | Glossopharyngeal Nerve - cytology | Vagus Nerve - pathology | Rhombencephalon - cytology | Cranial Nerves - physiology | Radiculopathy - pathology | Glossopharyngeal Nerve Diseases - pathology | Nerve Fibers, Myelinated - pathology | Nerve Fibers, Myelinated - physiology | Aged, 80 and over | Radiculopathy - physiopathology | Female | Cranial Nerve Diseases - epidemiology | Cranial Nerve Diseases - physiopathology | Cranial Nerves - cytology | Radiculopathy - epidemiology | Vertebrobasilar Insufficiency - epidemiology | Glossopharyngeal Nerve Diseases - physiopathology | Trigeminal Neuralgia - epidemiology | Facial Nerve Diseases - epidemiology | Trigeminal Nerve - pathology | Trigeminal Neuralgia - physiopathology | Vertebrobasilar Insufficiency - complications | Facial Nerve Diseases - physiopathology | Vagus Nerve Diseases - pathology | Rhombencephalon - physiology | Syndrome | Vagus Nerve - physiology | Trigeminal Nerve - physiology | Facial Nerve Diseases - pathology | Cranial Nerves - physiopathology | Rhombencephalon - physiopathology | Trigeminal Neuralgia - pathology | Causality | Facial Nerve - pathology | Cranial Nerve Diseases - pathology | Medicine, Experimental | Comparative analysis | Medical research | Index Medicus | Compression | Brain stem | Myelin | Facial nerve | Trigeminal nerve | Cadavers | Glossopharyngeal nerve | Skull | Neuralgia | Vagus nerve
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, pp. e0170315 - e0170315
Objectives To characterise the symptomatic phenotype of Chiari-like malformation (CM), secondary syringomyelia (SM) and brachycephaly in the Cavalier King... 
CAUDAL CRANIAL FOSSA | VOLUMES | CRANIOCERVICAL JUNCTION | SIGNS | MULTIDISCIPLINARY SCIENCES | DOGS | CLOSURE | ANGLE | CEREBROSPINAL-FLUID | MORPHOLOGY | FEATURES | Olfactory Bulb - diagnostic imaging | Brain - diagnostic imaging | Skull Base - diagnostic imaging | Arnold-Chiari Malformation - complications | Male | Cephalometry | Foramen Magnum - diagnostic imaging | Dog Diseases - pathology | Arnold-Chiari Malformation - veterinary | Skull - pathology | Syringomyelia - diagnostic imaging | Female | Retrospective Studies | Dog Diseases - diagnostic imaging | Genetic Predisposition to Disease | Reproducibility of Results | Syringomyelia - veterinary | Olfactory Bulb - pathology | Cervical Vertebrae - diagnostic imaging | Breeding | Syringomyelia - etiology | Craniosynostoses - genetics | Dog Diseases - genetics | Foramen Magnum - pathology | Skull Base - pathology | Craniosynostoses - veterinary | Discriminant Analysis | Magnetic Resonance Imaging | Craniosynostoses - diagnostic imaging | Phenotype | Animals | Arnold-Chiari Malformation - genetics | Cervical Vertebrae - pathology | Skull - diagnostic imaging | Syringomyelia - genetics | Dogs | Brain - pathology | Arnold-Chiari Malformation - diagnostic imaging | Rhombencephalon - diagnostic imaging | Observer Variation | Rhombencephalon - pathology | Syringomyelia | Research | Magnetic resonance imaging | Spaniels | Health aspects | Analysis | Brain | Veterinary colleges | Spinal cord | Dens | Fluid flow | Forebrain | Parenchyma | Mapping | Genomes | Cerebrospinal fluid | Veterinary medicine | Ultrasonic imaging | Pain | Bones | Quantitative analysis | Fluid dynamics | Abnormalities | Brain mapping | Breeding of animals | Flattening | Morphology | Diagnostic software | Olfactory bulb | Hindbrain | Diagnostic systems | Conformation | Index Medicus
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2001, Volume 101, Issue 3, pp. 195 - 201
Journal Article
American Journal of Pathology, The, ISSN 0002-9440, 2014, Volume 184, Issue 2, pp. 382 - 396
Globoid cell leukodystrophy is a lysosomal storage disease characterized by the loss of galactocerebrosidase. Galactocerebrosidase loss leads to the... 
Pathology | PSYCHOSINE-INDUCED APOPTOSIS | TWITCHER MICE | MULTIPLE-SCLEROSIS | TOLL-LIKE RECEPTORS | SPINAL-CORD | CENTRAL-NERVOUS-SYSTEM | PATHOLOGY | EXPRESSION | KRABBE-DISEASE | BRAIN | TLR2 | Microglia - metabolism | Oligodendroglia - metabolism | Toll-Like Receptor 2 - genetics | Humans | Astrocytes - pathology | Cell Aggregation - drug effects | Fluorescence | Leukodystrophy, Globoid Cell - immunology | Glial Fibrillary Acidic Protein - metabolism | RNA, Messenger - metabolism | Myelin Sheath - metabolism | Oligodendroglia - drug effects | Microglia - pathology | Microfilament Proteins - metabolism | Disease Models, Animal | Calcium-Binding Proteins - metabolism | Astrocytes - drug effects | Cell Line | Immunity, Innate - drug effects | Macrophages - pathology | Microglia - drug effects | RNA, Messenger - genetics | Toll-Like Receptor 1 - metabolism | Leukodystrophy, Globoid Cell - pathology | Toll-Like Receptor 2 - metabolism | Cell Shape - drug effects | Oligodendroglia - pathology | Up-Regulation - drug effects | Psychosine - pharmacology | Macrophages - metabolism | Animals | Signal Transduction - drug effects | Leukodystrophy, Globoid Cell - etiology | Rhombencephalon - metabolism | Macrophages - drug effects | Chemokines - metabolism | Mice | Aging - metabolism | Astrocytes - metabolism | Index Medicus | Abridged Index Medicus | Regular
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