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Developmental neuropathology /
| Call Number: | Libro Electrónico |
|---|---|
| Other Authors: | , , |
| Format: | Electronic eBook |
| Language: | Inglés |
| Published: |
Hoboken, NJ :
Wiley,
2018.
|
| Edition: | Second edition. |
| Subjects: | |
| Online Access: | Texto completo |
Table of Contents:
- Intro; Developmental Neuropathology; Contents; List of Contributors; Introduction; 1 Central Nervous System Manifestations of Chromosomal Change; Introduction; The craniofacial complex; Genetic counseling and the neuropathologist; Autosomal trisomy; Trisomy 8; Trisomy 9; Trisomy 13; Trisomy 18; Trisomy 21; Other autosomal aneuploidies; Triploidy; Tetraploidy; Sex chromosome aneuploidy; Deletions; Deletion 3p-; Deletion 4p-; Deletion 5p-; Deletion 9p-; Deletion 11q-; Deletion 13q-; Deletion 18p-; Deletion 18q-; Deletion 21q-; Duplications; Duplication 3q+; Duplication 9p+
- Future perspective, conclusionsReferences; 2 Neural Tube Defects; Definition; Normal embryology; Neural tube closure; Development of the skull and vertebral column; Secondary neurulation within the tail bud; Epidemiology; Prevalence; Sex distribution; Non-genetic risk factors; Clinical features; Clinical presentation; Biochemistry and prenatal diagnosis; Differential diagnosis; Pathology; Neural tube closure disorders; Axial mesodermal defects with herniation of the neural tube; Spinal dysraphism: defects of tail bud development; Genetics; Human genetic studies; Mouse genetic studies.
- Genetics of occipital encephaloceleAnimal models and pathogenesis; Craniorachischisis; Exencephaly; Myelomeningocele; Treatment, future directions and conclusions; Surgical treatment; Primary prevention; References; 3 Midline Patterning Defects; Definition of the disorder, major synonyms and historical perspective; Embryology of forebrain patterning; Holoprosencephaly; Definition; Synonyms and historical annotations; Epidemiology; Incidence; Genetics; Clinical features including appropriate investigations; Pathology; Pathogenesis and experimental models; Future directions and therapy.
- Atelencephaly and aprosencephalyDefinition and synonyms; Genetics; Pathology; Pathogenesis; Agenesis of the corpus callosum; Definition and epidemiology; Genetics; Clinical features including appropriate investigations; Pathology; Differential diagnosis; Embryology, pathogenesis and experimental models; Septo-optic dysplasia; Definition and synonyms; Genetics; Clinical features; Pathology; Differential diagnosis; Embryology, pathogenesis and experimental models; Other midline patterning defects; References; 4 Microcephaly; Definitions, major synonyms and historical perspective.
- Normal embryologyEpidemiology; Clinical features; Imaging; Genetics; Autosomal recessive primary microcephaly; Dwarfism associated with microcephaly and DNA repair deficiency syndromes; Chromosomal structural microcephalies; Monogenic syndromic microcephalies; Metabolic microcephalies; Neuropathology; Differential diagnosis; Animal models and pathogenesis; Treatment, future perspectives, conclusions; References; 5 Hemimegalencephaly and Dysplastic Megalencephaly; Definition and synonyms; Epidemiology and genetics; Clinical features and differential diagnosis; Clinical examination.