000			05792nam a22003855i 4500
001			293000
003			MX-SnUAN
005			20160429155049.0
007			cr nn 008mamaa
008			150903s2008 au | o |||| 0|eng d
020			_a9783211695005 _99783211695005
024	7		_a10.1007/9783211695005 _2doi
035			_avtls000345444
039		9	_a201509030412 _bVLOAD _c201405050320 _dVLOAD _y201402061336 _zstaff
040			_aMX-SnUAN _bspa _cMX-SnUAN _erda
050		4	_aRC346-429.2
100	1		_aRuggieri, Martino. _eeditor. _9325231
245	1	0	_aNeurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes / _cedited by Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Rocco.
264		1	_aVienna : _bSpringer Vienna, _c2008.
300			_axxI, 1070 páginas 457 ilustraciones, some of them en color _brecurso en línea.
336			_atexto _btxt _2rdacontent
337			_acomputadora _bc _2rdamedia
338			_arecurso en línea _bcr _2rdacarrier
347			_aarchivo de texto _bPDF _2rda
500			_aSpringer eBooks
505	0		_aEmbryology of Neurocutaneous Syndromes -- Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome -- Neurofibromatosis type 1 & Related Disorders -- Neurofibromatosis type 2 and related disorders -- The Tuberous Sclerosis Complex -- Von Hippel-Lindau Disease -- Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena) -- Klippel-Trenaunay Syndrome -- Parkes Weber Syndrome -- Sturge-Weber Syndrome -- Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia) -- Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation) -- Blue Rubber Bleb Nevus Syndrome (Brbns) -- Wyburn-Mason Syndrome -- Maffucci Syndrome -- Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism) -- Phylloid Hypomelanosis -- Incontinentia Pigmenti -- Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS) -- Leopard Syndrome -- Nevus of OTA -- Phacomatosis Pigmentokeratotica -- Phakomatosis Pigmentovascularis -- Speckled Lentiginous Nevus Syndrome -- Cutis Tricolor (Ruggieri-Happle Syndrome) -- Neurocutaneous Melanosis -- Genetics of Pten Hamartoma Tumor Syndrome (PHTS) -- Lhermitte-Duclos and Cowden Disease Complex -- Bannayan-Riley-Ruvalcaba Syndrome -- Encephalocraniocutaneous Lipomatosis (Haberland Syndrome) -- Proteus Syndrome -- Epidermal Nevus Syndromes -- Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome) -- Inflammatory Linear Verrucous Epidermal Nevus (Ilven) -- Nevus Comedonicus Syndrome -- Becker’s Nevus Syndrome (Pigmentary Hairy Epidermal Nevus) -- Child Syndrome -- Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2) -- SjÖgren-Larsson Syndrome -- Kid Syndrome (Keratitis-Ichthyosis-Deafness) -- Papillon-Lefèvre Syndrome (PLS) -- Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency) -- Darier’s Disease -- Dyskeratosis Congenita -- Nevoid Basal Cell Carcinoma (Gorlin) Syndrome -- Multiple Endocrine Neoplasia Type 2B -- Turcot Syndrome -- Degos’ Disease (Malignant Atrophic Papulosis) -- Ataxia-Telangiectasia -- Nijmegen Breakage Syndrome -- Xeroderma Pigmentosum -- Cockayne Syndrome -- Trichothiodystrophy -- Progeria and Progeroid Syndromes (Premature Ageing Disorders) -- Focal Dermal Hypoplasia Syndrome (Goltz Syndrome) -- Ehlers-Danlos Syndromes -- Lipoid proteinosis -- Progressive facial hemiatrophy (parry-romberg syndrome) -- Linear scleroderma (morphoea) “en coup de sabre” -- Unilateral Somatic and Intracranial Hypoplasia -- Oculocerebrocutaneous Syndrome (Delleman Syndrome) -- Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome) -- Macrodactyly-Lipofibromatous Hamartoma of Nerves -- Chime Syndrome (Zunich Syndrome) -- Hypohidrotic Ectodermal Dysplasia (HED) -- Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway -- Anderson-Fabry Disease -- Cerebrotendinous Xanthomatosis -- Giant Axonal Neuropathy -- Lesch-Nyhan Syndrome -- The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders -- Skin Involvement as a Clinical Marker of Neuromuscular Disorders.
520			_aNeurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
590			_aPara consulta fuera de la UANL se requiere clave de acceso remoto.
700	1		_aPascual-Castroviejo, Ignacio. _eeditor. _9325232
700	1		_aRocco, Concezio. _eeditor. _9325233
710	2		_aSpringerLink (Servicio en línea) _9299170
776	0	8	_iEdición impresa: _z9783211213964
856	4	0	_uhttp://remoto.dgb.uanl.mx/login?url=http://dx.doi.org/10.1007/978-3-211-69500-5 _zConectar a Springer E-Books (Para consulta externa se requiere previa autentificación en Biblioteca Digital UANL)
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999			_c293000 _d293000