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Montse Pauta Raigam J. Martinez-Portilla Eva Meler Juan Otaño Antoni Borrell 《黑龙江环境通报》2023,43(5):596-604
The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Selected studies included those with (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results. Only positive variants classified as likely pathogenic or pathogenic determined as causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. Eight studies with data on ES diagnostic yield, including 146 fetuses with isolated FGR, were identified. Overall, a pathogenic variant determined as potentially causative of the fetal phenotype was found in 17 cases, resulting in a 12% (95% CI: 7%–18%) incremental performance pool of ES. The vast majority were studied before 32 weeks'gestation. In conclusion, a monogenic disorder was prenatally found in association with apparently isolated FGR in 12% of these fetuses. 相似文献
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Firmat C Gomes Rodrigues H Hutterer R Rando JC Alcover JA Michaux J 《Die Naturwissenschaften》2011,98(1):33-37
Malpaisomys insularis is a mouse-like rodent endemic to the eastern Canary Islands. It became extinct during the fourteenth century. It was a remarkable
species living under hyperarid conditions. A dental microwear analysis was performed in order to determine its former diet.
The elevated number of fine scratches found in Malpaisomys molars suggests that it consumed a significant part of Poaceae, grass consumption leaving the most distinctive features on
dental wear facets. A graminivorous diet with a high amount of abrasive items is in agreement with the broad teeth of Malpaisomys, considered as adapted to grass consumption. However, in the absence of potential competitors over its native range, it is
likely that Malpaisomys also foraged on dicots to meet higher nutrient and energetic requirements. The ecology of Malpaisomys is discussed from these results in the context of the desertic climatic conditions of the eastern Canary Islands and with
a special concern on its small body size in contrast to other large-sized island murine species such as the giant rats of
the central Canary Islands. 相似文献