نتایج جستجو برای: neonatal progeroid syndrome
تعداد نتایج: 695789 فیلتر نتایج به سال:
Background: To provide, maintain and promote the health of children as a vulnerable group in the health service has a special place. So, the first step in reducing mortality and improve their health, identify causes of morbidity and mortality. Materials and Methods: In this retrospective study, the main causes of neonate death in the case of neonatal who died in Aboozar hospital in 1390 ...
Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Werner syndrome (WS), which is characterized by acceler...
Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency
As part of the Nucleotide Excision Repair (NER) process, the endonuclease XPG is involved in repair of helix-distorting DNA lesions, but the protein has also been implicated in several other DNA repair systems, complicating genotype-phenotype relationship in XPG patients. Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP) alone, or XP combined with the severe ...
TAR syndrome (thrombocytopenia-Absent Radii) is characterised by the neonatal onset thrombocytopenia and bilateral absence or hypoplasia of the radii with normal organs. This syndrome is a rare hereditary condition with a recessive autosomal character. During the first months of life, prognosis is related to the severity of hemorrhage. This paper focuses on three infants who suffered from T...
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