Claudia Rigamonti - Publications

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: October 03, 2025

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD): a scoping review.

Journal: Pediatric research

Published: May 14, 2024

Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy.

Journal: Frontiers in neurology

Published: May 12, 2022

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.

Journal: American journal of medical genetics. Part A

Published: March 20, 2022

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.

Journal: Journal of autism and developmental disorders

Published: October 26, 2021

Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies.

Journal: Journal of developmental and behavioral pediatrics : JDBP

Published: January 18, 2021

Maternal input to children with sex chromosome trisomies.

Journal: International journal of language & communication disorders

Published: July 01, 2019

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Journal: Nature reviews. Genetics

Published: July 12, 2018

Early communicative skills of children with Klinefelter syndrome.

Journal: Clinical linguistics & phonetics

Published: October 17, 2017

Vocal and gestural productions of 24-month-old children with sex chromosome trisomies.

Journal: International journal of language & communication disorders

Published: October 25, 2016

Klinefelter Syndrome in preschool children: the importance of an early multidisciplinary approach for patients and families.

Journal: Minerva pediatrica

Published: March 24, 2016

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

Journal: Congenital anomalies

Published: April 18, 2014