Atilano Carcavilla
La Paz, MD, Spain
Last Updated: 09/26/2026
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Found 18 publications
Impact of RASopathy subtype on the early disease course of RASopathy-associated hypertrophic cardiomyopathy: clinical outcomes and genetic insights.
Journal: Pediatric research
Published: July 15, 2025
Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.
Journal: Archives of endocrinology and metabolism
Published: May 14, 2025
Fat Oxidation Rates during Exercise in Prepubertal Children: The Role of Obesity, Fitness, and Lean Mass.
Journal: Medicine and science in sports and exercise
Published: February 28, 2025
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.
Journal: Clinical endocrinology
Published: January 09, 2025
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Journal: European journal of endocrinology
Published: December 06, 2024
VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.
Journal: Orphanet journal of rare diseases
Published: August 21, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Journal: Journal of clinical medicine
Published: June 21, 2023
Impact of COVID-19 pandemic on HbA1c management and results in pediatric and adult outpatients with diabetes.
Journal: Advances in laboratory medicine
Published: September 29, 2022
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Journal: European journal of endocrinology
Published: May 26, 2021
Noonan syndrome: genetic and clinical update and treatment options
Journal: Anales de pediatria
Published: March 12, 2020
Body Composition as a Mediator between Cardiorespiratory Fitness and Bone Mass during Growth.
Journal: Medicine and science in sports and exercise
Published: January 16, 2020
The value of dermatological phenotyping in the clinical diagnosis of RASopathies.
Journal: The British journal of dermatology
Published: June 04, 2019
Last Updated: 09/26/2026