Titlebook: Genetics of Endocrine Diseases and Syndromes; Peter Igaz,Attila Patócs Book 2019 Springer Nature Switzerland AG 2019 endocrinology.genetic

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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)絡公開度




書目名稱Genetics of Endocrine Diseases and Syndromes網(wǎng)絡公開度學科排名




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

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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

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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

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流利圓滑

流利圓滑

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

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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

Pillory

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