ContextData on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methodsRetrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental disomy of chromosome 7 (mUPD7, n=13)] and 21 small for gestational age (SGA). Clinical (thelarche in females;...
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2022 (v1)PublicationUploaded on: January 31, 2024
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2022 (v1)Publication
Simple Summary The use of targeted therapies is revolutionizing the prognosis of many cancers; however, there is still limited knowledge of their side effects. Dyslipidemia is often present in cancer patients due to mechanisms that are directly or indirectly related to cancer or therapies. The aim of our study is to investigate the effects of...
Uploaded on: February 14, 2024 -
2020 (v1)Publication
ObjectiveEarly identification of de novo KCNQ2 variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo KCNQ2 pathogenic variants to dissect genotype-phenotype correlations.MethodsPatients with de novo KCNQ2 pathogenic variants...
Uploaded on: April 14, 2023