نتائج البحث - "FORAMEN magnum"

1

Craniocervical Junction Meningiomas without Hydrocephalus Presenting Solely with Syncope: Report of 2 Cases

المؤلفون: Pierre-Olivier Champagne, Michel W. Bojanowski

المصدر: World Neurosurgery. 114:161-164

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2dc4e93ba94e1336f3f56ccbdbd3035Test
https://doi.org/10.1016/j.wneu.2018.03.009Test

2

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, de novo mutations, Hindbrain, Haploinsufficiency, Biology, macrocephaly, Polymorphism, Single Nucleotide, Article, Chromodomain, chromodomain genes, 03 medical and health sciences, 0302 clinical medicine, Chiari I malformation, Exome Sequencing, medicine, Genetics, Animals, Humans, Gene, Zebrafish, Genetics (clinical), Foramen magnum, Macrocephaly, rare variants, Brain, Correction, gene burden, medicine.disease, Magnetic Resonance Imaging, Syringomyelia, Human genetics, Arnold-Chiari Malformation, DNA-Binding Proteins, 030104 developmental biology, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Case-Control Studies, zebrafish disease model, Female, Headaches, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ac6d2e60064bcaddc86c2e83424d58Test
https://europepmc.org/articles/PMC7820723Test/

3

Expanding the phenotype of Wiedemann-Steiner syndrome:Craniovertebral junction anomalies

المصدر: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859Test

مصطلحات موضوعية: Adult, Male, Hypertrichosis, Pathology, medicine.medical_specialty, Contracture, Wiedemann–Steiner syndrome, Adolescent, Chiari malformation, Short stature, cervical C2/C3 vertebral fusion, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, craniovertebral junction, Epigenetics, Child, Growth Disorders, Genetics (clinical), Loss function, small foramen magnum, biology, business.industry, Facies, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, medicine.disease, Phenotype, medicine.anatomical_structure, Wiedemann-Steiner syndrome, Child, Preschool, Mutation, Cervical Vertebrae, Microcephaly, biology.protein, Female, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein, Cervical vertebrae

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9bTest
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdfTest

4

Craniometric Analysis of the Hindbrain and Craniocervical Junction of Chihuahua, Affenpinscher and Cavalier King Charles Spaniel Dogs With and Without Syringomyelia Secondary to Chiari-Like Malformation

المؤلفون: Clare Rusbridge, Anna-Mariam Kiviranta, Tarja S. Jokinen, Roberto M. La Ragione, Angus McFadyen, Susan P. Knowler

المساهمون: University of Helsinki, Veterinary Teaching Hospital, Faculty of Veterinary Medicine, Equine and Small Animal Medicine, Departments of Faculty of Veterinary Medicine

المصدر: PLoS ONE
PLoS ONE, Vol 12, Iss 1, p e0169898 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Physiology, FEATURES, PATHOGENESIS, CAUDAL CRANIAL FOSSA, lcsh:Medicine, Breeding, 413 Veterinary science, Nervous System, Diagnostic Radiology, OCCIPITAL HYPOPLASIA/SYRINGOMYELIA, Medicine and Health Sciences, Dog Diseases, Foramen Magnum, POSITION, lcsh:Science, Musculoskeletal System, Cerebrospinal Fluid, Mammals, Skull Base, Foramen magnum, Multidisciplinary, biology, Pets and Companion Animals, Radiology and Imaging, Brain, Discriminant Analysis, Anatomy, Craniometry, Magnetic Resonance Imaging, PREVALENCE, Body Fluids, Arnold-Chiari Malformation, medicine.anatomical_structure, Phenotype, Spinal Cord, Vertebrates, Cervical Vertebrae, Female, BONE, Syringomyelia, Cervical vertebrae, Research Article, Fossa, Imaging Techniques, Cephalometry, Animal Types, biology.animal_breed, Synchondrosis, Research and Analysis Methods, 03 medical and health sciences, Craniosynostoses, Dogs, Diagnostic Medicine, SYRINGOHYDROMYELIA, medicine, Animals, Genetic Predisposition to Disease, Skeleton, Retrospective Studies, Cavalier King Charles spaniel, Morphometry, lcsh:R, Skull, Organisms, Biology and Life Sciences, biology.organism_classification, medicine.disease, Hindbrain, Rhombencephalon, Neuroanatomy, 030104 developmental biology, CLOSURE, Amniotes, MORPHOLOGY, lcsh:Q, Zoology, Neuroscience