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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歌曲 发表于 2025-3-22 04:34:18
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慢跑鞋 发表于 2025-3-22 10:12:30
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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怒目而视 发表于 2025-3-22 22:06:24
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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 backgrPillory 发表于 2025-3-23 06:08:04
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