000			02991nam a22005175i 4500
001			978-3-319-33898-9
003			DE-He213
005			20180206183000.0
007			cr nn 008mamaa
008			161117s2016 gw | s |||| 0|eng d
020			_a9783319338989 _9978-3-319-33898-9
050		4	_aRB155-155.8
050		4	_aQH431
072		7	_aMFN _2bicssc
072		7	_aMED107000 _2bisacsh
082	0	4	_a611.01816 _223
082	0	4	_a599.935 _223
245	1	0	_aFXTAS, FXPOI, and Other Premutation Disorders _h[recurso electrónico] / _cedited by Flora Tassone, Deborah A. Hall.
250			_a2nd ed. 2016.
264		1	_aCham : _bSpringer International Publishing : _bImprint: Springer, _c2016.
300			_aIX, 293 p. 22 illus., 12 illus. in color. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_a1.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			_aThis 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	_aMedicine.
650		0	_aHuman genetics.
650		0	_aMolecular biology.
650		0	_aNeurosciences.
650	1	4	_aBiomedicine.
650	2	4	_aHuman Genetics.
650	2	4	_aMolecular Medicine.
650	2	4	_aNeurosciences.
700	1		_aTassone, Flora. _eeditor.
700	1		_aHall, Deborah A. _eeditor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9783319338965
856	4	0	_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-319-33898-9
912			_aZDB-2-SBL
942			_cLIBRO_ELEC
999			_c225996 _d225996