000			03019nam a22004095i 4500
999			_c88104 _d88104 _x1
001			88104
003			ES-MaUEC
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007			cr nn 008mamaa
008			161117s2016 gw | fs |||| 0|eng d
020			_a9783319338989
024	7		_a10.1007/978-3-319-33898-9 _2doi
040			_aES-MaUEC _bspa _dES-MaUEC
050		4	_aRJ506.F73 _bF88 2016 EB
245	0	0	_aFXTAS, FXPOI, and other premutation disorders _cedited by Flora Tassone, Deborah A. Hall.
250			_aSecond edition
264		1	_aCham _bSpringer International Publishing _c2016
300			_a1 recurso en línea (IX, 293 páginas) _b22 ilustraciones, 12 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
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.
988			_aEBOOK, EBSPRINGER
650		7	_aSíndrome X frágil _2embne _9155304 _0comprobar BNE19990150466
650		7	_aGenética humana _2embne _0comprobar BNE19900986777 _9140562
650		7	_aBiología molecular _2embne _0comprobar BNE19900968373 _9139103
700	1		_9101539 _aTassone, Flora _eeditor literario
700	1		_9101540 _aHall, Deborah A. _eeditor literario
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-319-33898-9zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
901			_ai9783319338989
907			_a.b12981084 _b10-10-17 _c08-03-17
942			_2lcc _cLE
945			_aRJ506 .F73 F88 2016 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11602922 _z06-04-17
998			_dz _eb _feng _ggw _h0 _b02/2018 _zSI