Publications by authors named "Anne-Sophie Trentesaux"
Article Synopsis
- The study identifies 15 new genetic alterations linked to KCNK9 imprinting syndrome (KIS) by analyzing 47 affected individuals, revealing a diverse genetic and phenotypic spectrum.
- It highlights common symptoms of KIS, such as motor and speech delays, intellectual disabilities, and behavioral issues, while also discovering an additional mutational hotspot in the gene involved.
- The research emphasizes that KIS is characterized by complex channel function alterations, which can aid in molecular diagnosis since clinical features alone are insufficient for identification.
To increase the knowledge about S. capitis in the neonatal setting, we conducted a nationwide 3-month survey in 38 neonatal intensive care units (NICUs) covering 56.6% of French NICU beds.
View Article and Find Full Text PDF[Idiopathic gastric perforation in the newborn. Report of 2 cases].
Gastroenterol Clin Biol
December 2003
We report two cases of spontaneous neonatal gastric perforation in neonates born at term. The first neonate experienced on the second day of life a shock related to gastric perforation and he died 24 hours postoperatively from multisystemic failure. In the second case, gastric perforation occurred in a twin on the third day of life.
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