Anne Roussie-Lienhardt

Limoges, France

Last Updated: 09/26/2026

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Found 14 publications

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France.

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France.

Journal: Endocrine connections

Published: December 03, 2021

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.

Journal: European journal of endocrinology

Published: September 30, 2020

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.

Journal: Hormone research in paediatrics

Published: May 26, 2020

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.

Journal: Frontiers in endocrinology

Published: April 26, 2018

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 16, 2017

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 08, 2016

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.

Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 30, 2015

A novel mutation in the calcium sensing receptor gene in a neonate with severe hyperparathyroidism. .

A novel mutation in the calcium sensing receptor gene in a neonate with severe hyperparathyroidism. .

Journal: Genetic counseling (Geneva, Switzerland)

Published: November 05, 2014

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.

Journal: Journal of pediatric urology

Published: December 13, 2013

Clinical signs of Marfan syndrome in children under 10 years of age

Clinical signs of Marfan syndrome in children under 10 years of age

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: March 03, 2013

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Journal: European journal of endocrinology

Published: November 22, 2012

Height and weight delay in growth

Height and weight delay in growth

Journal: La Revue du praticien

Published: December 06, 2011

Showing 1-12 of 14

Last Updated: 09/26/2026