Cargando…
FXTAS, FXPOI, and Other Premutation Disorders
This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor Corporativo: | |
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Cham :
Springer International Publishing : Imprint: Springer,
2016.
|
| Edición: | 2nd ed. 2016. |
| Temas: | |
| Acceso en línea: | Texto Completo |
MARC
| LEADER | 00000nam a22000005i 4500 | ||
|---|---|---|---|
| 001 | 978-3-319-33898-9 | ||
| 003 | DE-He213 | ||
| 005 | 20220120003651.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 161117s2016 sz | s |||| 0|eng d | ||
| 020 | |a 9783319338989 |9 978-3-319-33898-9 | ||
| 024 | 7 | |a 10.1007/978-3-319-33898-9 |2 doi | |
| 050 | 4 | |a RB155-155.8 | |
| 072 | 7 | |a MFN |2 bicssc | |
| 072 | 7 | |a MED107000 |2 bisacsh | |
| 072 | 7 | |a MFN |2 thema | |
| 082 | 0 | 4 | |a 616.042 |2 23 |
| 245 | 1 | 0 | |a FXTAS, FXPOI, and Other Premutation Disorders |h [electronic resource] / |c edited by Flora Tassone, Deborah A. Hall. |
| 250 | |a 2nd ed. 2016. | ||
| 264 | 1 | |a Cham : |b Springer International Publishing : |b Imprint: Springer, |c 2016. | |
| 300 | |a IX, 293 p. 22 illus., 12 illus. in color. |b online resource. | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 347 | |a text file |b PDF |2 rda | ||
| 505 | 0 | |a 1.Clinical Neurological Phenotype of FXTAS -- 2.The Epidemiology of FXTAS -- 3.FXTAS: Neuropsychological and Neuropsychiatric Phenotypes -- 4.Neuroimaging Findings in FXTAS -- 5.The Pathology of FXTAS -- 6.The Molecular Biology of FXTAS -- 7.Genotype/Phenotype Relationships in FXTAS -- 8.Mouse Models for FXTAS and the Fragile X Premutation -- 9.Treatment and Management of FXTAS -- 10.Clinical manifestation and management of FXPOI -- 11.Model systems for understanding FXPOI -- 12.Premutation-Associated Disorders in Childhood and Adulthood -- 13.Genetic Counseling for FXTAS and Fragile X-associated disorders. . | |
| 520 | |a This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. | ||
| 650 | 0 | |a Medical genetics. | |
| 650 | 0 | |a Medicine-Research. | |
| 650 | 0 | |a Biology-Research. | |
| 650 | 0 | |a Neurosciences. | |
| 650 | 1 | 4 | |a Medical Genetics. |
| 650 | 2 | 4 | |a Biomedical Research. |
| 650 | 2 | 4 | |a Neuroscience. |
| 700 | 1 | |a Tassone, Flora. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 700 | 1 | |a Hall, Deborah A. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 710 | 2 | |a SpringerLink (Online service) | |
| 773 | 0 | |t Springer Nature eBook | |
| 776 | 0 | 8 | |i Printed edition: |z 9783319338965 |
| 776 | 0 | 8 | |i Printed edition: |z 9783319338972 |
| 776 | 0 | 8 | |i Printed edition: |z 9783319816272 |
| 856 | 4 | 0 | |u https://doi.uam.elogim.com/10.1007/978-3-319-33898-9 |z Texto Completo |
| 912 | |a ZDB-2-SBL | ||
| 912 | |a ZDB-2-SXB | ||
| 950 | |a Biomedical and Life Sciences (SpringerNature-11642) | ||
| 950 | |a Biomedical and Life Sciences (R0) (SpringerNature-43708) | ||