In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

摘要目前已经认识到了各种类型早期发病的非自身免疫性糖尿病是单基因糖尿病,
每种亚型都是在个体水平上发生的高度变异的单一基因缺陷所导致的. 单基因糖尿病 …

The most common endocrine diseases, type 1 diabetes, hyperthyroidism, and
hypothyroidism, are the result of autoimmunity. Clustering of autoimmune endocrinopathies …

Distinguishing patients with monogenic diabetes from those with type 1 diabetes (T1D) is
important for correct diagnosis, treatment, and selection of patients for gene discovery …

A diagnosis of diabetes will naturally impact an individual's life. Unfortunately, the type of
diabetes is rarely confirmed, and patients and their physicians rarely question the …

BACKGROUND: Hyperglycemia in premature infants is usually thought to reflect inadequate
pancreatic development rather than monogenic neonatal diabetes. No studies, to our …

Background In the absence of existing data, the present review intends to determine the
incidence, prevalence and/or genetic determinants of neonatal diabetes mellitus (NDM) …

Human sex development: targeted technologies to improve diagnosis | Genome Biology Skip to
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Background: We evaluated a methylation-specific multiplex-ligation-dependent probe
amplification (MS-MLPA) assay for the molecular diagnosis of transient neonatal diabetes …

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