標題: Titlebook: Genetics of Endocrine Diseases and Syndromes; Peter Igaz,Attila Patócs Book 2019 Springer Nature Switzerland AG 2019 endocrinology.genetic [打印本頁] 作者: 嚴厲 時間: 2025-3-21 18:42
書目名稱Genetics of Endocrine Diseases and Syndromes影響因子(影響力)
書目名稱Genetics of Endocrine Diseases and Syndromes影響因子(影響力)學科排名
書目名稱Genetics of Endocrine Diseases and Syndromes網(wǎng)絡(luò)公開度
書目名稱Genetics of Endocrine Diseases and Syndromes網(wǎng)絡(luò)公開度學科排名
書目名稱Genetics of Endocrine Diseases and Syndromes被引頻次
書目名稱Genetics of Endocrine Diseases and Syndromes被引頻次學科排名
書目名稱Genetics of Endocrine Diseases and Syndromes年度引用
書目名稱Genetics of Endocrine Diseases and Syndromes年度引用學科排名
書目名稱Genetics of Endocrine Diseases and Syndromes讀者反饋
書目名稱Genetics of Endocrine Diseases and Syndromes讀者反饋學科排名
作者: Parley 時間: 2025-3-21 22:53 作者: 來自于 時間: 2025-3-22 01:55
Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generatiotic diagnosis of a particular monogenic disease. In these situations the tests itself were used for identification of one particular genetic alteration (e.g., point mutation or deletion) of the gene of interest. Later, parallel with the development of the technology, the focus has shifted by allowin作者: 歌曲 時間: 2025-3-22 04:34
Syndromes of Resistance to Thyroid Hormone Actionroid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 with measurable serum TSH concentrations, as a consequence of mutations of thyroid hormone recep作者: 慢跑鞋 時間: 2025-3-22 10:12 作者: 流利圓滑 時間: 2025-3-22 13:04 作者: 流利圓滑 時間: 2025-3-22 20:13
Genetics of Pituitary Tumourscant minority of somatotroph and corticotroph adenomas. Pituitary tumours can also develop secondary to germline mutations as part of a complex syndrome or as familial isolated pituitary adenomas. Tumours occurring in a familial setting may present at a younger age and can behave more aggressively w作者: 怒目而視 時間: 2025-3-22 22:06 作者: 饒舌的人 時間: 2025-3-23 05:14
Congenital Adrenal Hyperplasia hormone synthesis. Patients present with various symptoms depending on the nature and severity of the enzymatic block. More than 95% of all CAH patients suffer from 21-hydroxylase deficiency. The genetic background is well characterized for all CAH subtypes. Characterization of their genetic backgr作者: Pillory 時間: 2025-3-23 06:08
Pituitary Transcription Factor Mutations Leading to Hypopituitarismefects ranging from holoprosencephaly through septo-optic dysplasia to combined and isolated pituitary hormone deficiency. The first genes discovered in the human disease were based on mouse models of dwarfism due to mutations in transcription factor genes. High-throughput DNA sequencing technologie作者: 疲勞 時間: 2025-3-23 10:19 作者: 熔巖 時間: 2025-3-23 16:09 作者: 責難 時間: 2025-3-23 21:29 作者: Palpable 時間: 2025-3-23 22:49 作者: 公社 時間: 2025-3-24 06:12
Family Screening and Genetic Counselingintensively. The chief goal of the genetic counseling is the prevention of the conception or the birth of a person who would suffer from a severe genetic disease and/or to present information of the chance for having an affected descendant. If the prevention is not feasible, the alternative aim is t作者: Agnosia 時間: 2025-3-24 06:47 作者: Debate 時間: 2025-3-24 13:18 作者: 葡萄糖 時間: 2025-3-24 18:10 作者: AMOR 時間: 2025-3-24 20:09 作者: antipsychotic 時間: 2025-3-25 01:49 作者: 相符 時間: 2025-3-25 04:29 作者: 整頓 時間: 2025-3-25 10:28 作者: 洞穴 時間: 2025-3-25 13:41 作者: 倫理學 時間: 2025-3-25 16:10
Book 2019ding 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..作者: 無脊椎 時間: 2025-3-25 21:08
Der Konzern als Finanzintermedi?rut others, i.e., inherited tumor syndromes, follow the autosomal dominant pattern. Nomenclature used for pedigree analysis as well as the main features of inheritance patterns are also briefly reviewed.作者: otic-capsule 時間: 2025-3-26 00:13 作者: 作嘔 時間: 2025-3-26 05:43 作者: RECUR 時間: 2025-3-26 10:50
Neuralgischer und neuritischer Kopfschmerz,ence, thyroid hormone actions are impaired at the tissue level. The phenotypic manifestations of RTHβ and RTHα are to some extent correlated with the degree of disruption and the tissue distribution of the TRs being characterized by variable coexistence of hypothyroid or thyrotoxic manifestations in作者: 受傷 時間: 2025-3-26 13:45 作者: 核心 時間: 2025-3-26 19:03 作者: 擋泥板 時間: 2025-3-26 21:30
https://doi.org/10.1007/978-3-662-26426-3 to predict phenotype composition, disease progression and to avoid life-threatening complications such as secondary adrenal insufficiency..This chapter aims to highlight our current understanding about (1) the contribution of TF genes to pituitary development (2) the diversity of inheritance and ph作者: 暫時別動 時間: 2025-3-27 03:05 作者: 不開心 時間: 2025-3-27 08:57
https://doi.org/10.1007/978-3-642-92184-1 fails to operate the normal function of AVP-V2R-AQP2 system, it can result in various diseases such as diabetes insipidus (DI) or nephrogenic syndrome of inappropriate diuresis (NSIAD). The DI is characterized by excessive production of hyposmotic urine (“insipidus” means tasteless) due to the inab作者: 蜈蚣 時間: 2025-3-27 11:57 作者: Substance-Abuse 時間: 2025-3-27 15:17
Voraussetzungen der Konsolidierung,netics. Genetic screening makes possible to diagnose a genetic disease at an early stage or to exclude its presence. Family members have to be screened if a heritable disease is diagnosed. Personal consultation with the patient and the relatives is inevitable in every genetically determined disease.作者: 蘑菇 時間: 2025-3-27 17:45 作者: Mirage 時間: 2025-3-27 22:23
Neuralgischer und neuritischer Kopfschmerz,roid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 with measurable serum TSH concentrations, as a consequence of mutations of thyroid hormone recep作者: 絕緣 時間: 2025-3-28 03:44
https://doi.org/10.1007/978-3-658-30002-9iple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. We discuss the relevance of germline gene alterations in apparently sporadic endocrine tumors, e.g., medullary thyroid cancer, primary h作者: 數(shù)量 時間: 2025-3-28 08:56 作者: Pelvic-Floor 時間: 2025-3-28 12:57
https://doi.org/10.1007/978-3-7091-5543-1cant minority of somatotroph and corticotroph adenomas. Pituitary tumours can also develop secondary to germline mutations as part of a complex syndrome or as familial isolated pituitary adenomas. Tumours occurring in a familial setting may present at a younger age and can behave more aggressively w作者: angiography 時間: 2025-3-28 15:10
https://doi.org/10.1007/978-3-7091-9892-6al idiopathic adrenal hyperplasia. Familial forms of PA are rare with four subtypes defined to date (familial hyperaldosteronism types I–IV). The molecular basis of familial hyperaldosteronism type I (FH type I or glucocorticoid-remediable aldosteronism) was established in 1992; two decades later th作者: Vasoconstrictor 時間: 2025-3-28 22:40 作者: coalition 時間: 2025-3-29 00:07 作者: clarify 時間: 2025-3-29 03:18 作者: CLAM 時間: 2025-3-29 08:40 作者: maladorit 時間: 2025-3-29 14:34
Peter Igaz,Attila PatócsEnhances our understanding of the genetic basis of endocrine diseases.Covers both the molecular and clinical consequences of genetic alterations.Highlights the most common human endocrine diseases and作者: Osteoporosis 時間: 2025-3-29 18:10 作者: neolith 時間: 2025-3-29 20:17
Basic Concepts of GeneticsGenetics is the study of heredity. In this introductory chapter of the book ., we present the basic terms of genetics and basic physiological and pathogenic molecular processes that are implicated in the wide array of genetically determined diseases. Mutations, chromosomes, polymorphisms, and epigenetic terms are also briefly discussed.作者: 否決 時間: 2025-3-30 03:31 作者: attenuate 時間: 2025-3-30 04:40 作者: 縮短 時間: 2025-3-30 11:28
Genetics of Endocrine Diseases and Syndromes978-3-030-25905-1Series ISSN 1664-431X Series E-ISSN 2504-3692 作者: 青春期 時間: 2025-3-30 13:43 作者: invade 時間: 2025-3-30 16:42
https://doi.org/10.1007/978-3-7091-5543-1me or as familial isolated pituitary adenomas. Tumours occurring in a familial setting may present at a younger age and can behave more aggressively with resistance to treatment. This chapter will focus on the genetics and molecular pathogenesis of pituitary tumours.
