Annamaria Perri

Bologna, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Journal: Frontiers in endocrinology

Published: November 20, 2024

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.

Journal: Frontiers in endocrinology

Published: April 20, 2023

Endocrinological manifestations in RASopathies.

Endocrinological manifestations in RASopathies.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: August 02, 2022

Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].

Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].

Journal: Gene

Published: February 11, 2020

Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.

Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.

Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society

Published: May 04, 2019

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

Journal: Gene

Published: January 17, 2019

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Journal: Molecular syndromology

Published: December 03, 2018

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.

Journal: Cytogenetic and genome research

Published: October 25, 2018

New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

Journal: Endocrine

Published: January 10, 2017

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

Journal: American journal of medical genetics. Part A

Published: March 03, 2015

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

Journal: American journal of medical genetics. Part A

Published: May 16, 2013

Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.

Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.

Journal: Pediatric endocrinology reviews : PER

Published: September 06, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026