000			04816nam a22004215i 4500
988			_aSpringer_BiomedLife_2019
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008			191006s2019 gw | s |||| 0|eng d
020			_a9783030259051
024	7		_a10.1007/978-3-030-25905-1 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRC649 _b2019 EB
245	0	0	_aGenetics of Endocrine Diseases and Syndromes _cedited by Peter Igaz, Attila Patócs.
250			_a1st ed. 2019.
264		1	_aCham, Switzerland _bSpringer International Publishing _c2019
300			_a1 recurso en línea (XIX, 473 páginas) _b72 ilustraciones, 51 ilustraciones
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF _2rda
490	0		_aExperientia Supplementum _x1664-431X _v111
490	0		_aBiomedical and Life Sciences (Springer-11642)
505	0		_aPart 1: Basics of Genetics -- Chapter 1. Basic concepts ofgenetics -- Chapter 2. Brief description of inheritance patterns -- Chapter 3. Family screening and genetic counseling -- Chapter 4. Brief summary of the most important molecular genetic methods (PCR, qPCR, microarray, next generation sequencing etc.) -- Part 2: Endocrine diseases inherited as monogenic traits: Alterations of hormones and hormone receptors -- Chapter 5. Syndromes of resistance to thyroid hormone action -- Chapter 6. Glucocorticoid resistance.-Part 3: Endocrine diseases inherited as monogenic traits: Hereditary diseases predisposing to endocrine tumors -- Chapter 7. Overview of genetically determined diseases/multiple endocrine neoplasia syndromes predisposing to endocrine tumors -- Chapter 8. Hereditary diseases predisposing to pheochromocytoma (VHL, NF-1, paraganglioma syndromes and novel genes) -- Chapter 9. Diseases predisposing to adrenocortical malignancy (Li-Fraumeni syndrome, Beckwith-Wiedemann-syndrome, Carney-complex) -- Chapter 10. Genetics of pituitary tumors -- Chapter 11. Timeline of advances in genetics of primary aldosteronism -- Chapter 12. Congenital adrenal hyperplasia -- Part 4: Endocrine diseases inherited as monogenic traits: Monogenic diseases predisposing to hormone deficiency, infertility and diabetes mellitus -- Chapter 13. Pituitary transcription factor mutations leading to hypopituitarism -- Chapter 14. Hereditary neurohypophyseal diabetes insipidus -- Chapter 15. Nephrogenic diabetes insipidus -- Chapter 16. Monogenic forms of male infertility (including androgen resistance) -- Chapter 17. Genetic causes of female infertility -- Chapter 18. Monogenicforms of diabetes mellitus -- Part 5: Example of a multifactorial disease and chromosomal alterations in endocrine diseases -- Chapter 19. Genetics of obesity -- Chapter 20. Chromosomal aberrations with endocrine relevance (Turner-syndrome, Klinefelter-syndrome, Prader-Willi syndrome).
520	3		_aThis book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
650		7	_2embne _9169362 _aGlándulas endocrinas _xEnfermedades
700	1		_aIgaz, Peter _eeditor _4edt _4http://id.loc.gov/vocabulary/relators/edt _993545
700	1		_aPatócs, Attila _eeditor _4edt _4http://id.loc.gov/vocabulary/relators/edt
776	0	8	_iPrinted edition: _z9783030259044
776	0	8	_iPrinted edition: _z9783030259068
776	0	8	_iPrinted edition: _z9783030259075
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-25905-1 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_aSI _cm _dz _feng _ggw _h0 _b01/2020 _ek _zSI