Guido Cocchi

Bologna, Italy

Last Updated: 09/26/2026

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Found 50 publications

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Journal: Italian journal of pediatrics

Published: May 07, 2025

Growth Charts for Children With Beckwith-Wiedemann Spectrum.

Growth Charts for Children With Beckwith-Wiedemann Spectrum.

Journal: American journal of medical genetics. Part A

Published: October 28, 2024

Corrigendum: One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage.

Corrigendum: One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage.

Journal: Frontiers in medicine

Published: May 16, 2024

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.

Journal: BMC medical genomics

Published: November 29, 2022

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Journal: Cancers

Published: November 22, 2022

Down Syndrome: how to communicate the diagnosis.

Down Syndrome: how to communicate the diagnosis.

Journal: Italian journal of pediatrics

Published: October 12, 2022

One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.

One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.

Journal: Frontiers in medicine

Published: August 08, 2022

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.

Journal: Clinical genetics

Published: June 21, 2022

A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.

A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.

Journal: Scientific reports

Published: July 23, 2021

Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?

Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?

Journal: Brain sciences

Published: March 26, 2021

The transcriptome profile of human trisomy 21 blood cells.

The transcriptome profile of human trisomy 21 blood cells.

Journal: Human genomics

Published: January 07, 2021

Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements.

Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements.

Journal: Frontiers in nutrition

Published: December 13, 2020

Showing 1-12 of 50

Last Updated: 09/26/2026