Publications by authors named "Anne Lienhardt-Roussie"

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Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France.
Jean-Philippe Bertocchio, Natalie Grosset, Lionel Groussin, Peter Kamenický, Fabrice Larceneux, Anne Lienhardt-Roussie

Endocr Connect· January 2022

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Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.
Claire Flot, Valérie Porquet-Bordes, Justine Bacchetta, Anya Rothenbuhler, Anne Lienhardt-Roussie

Horm Res Paediatr· October 2021

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Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
Yasmine El Allali, Coralie Hermetet, Justine Bacchetta, Cyril Amouroux, Anya Rothenbuhler, Anne Lienhardt-Roussie

Eur J Endocrinol· February 2021

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene.
Claire Goursaud, Delphine Mallet, Alexandre Janin, Rita Menassa, Véronique Tardy-Guidollet, Anne Lienhardt-Roussie

Front Endocrinol (Lausanne)· September 2018

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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.
Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T Bennett, Anne Lienhardt-Roussie

Genet Med· February 2018

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P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.
Shaheena Parween, Florence Roucher-Boulez, Christa E Flück, Anne Lienhardt-Roussie, Delphine Mallet

J Clin Endocrinol Metab· December 2016

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Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.
Senay Savas-Erdeve, Elif Sagsak, Meliksah Keskin, Corinne Magdelaine, Anne Lienhardt-Roussie

J Pediatr Endocrinol Metab· September 2016

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Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control study.
F Balazard, S Le Fur, S Valtat, A J Valleron, P Bougnères, Anne Lienhardt-Roussie

BMC Public Health· September 2016

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Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.
Daniela Gorduza, Véronique Tardy-Guidollet, Elsa Robert, Claire-Lise Gay, Pierre Chatelain, Anne Lienhardt-Roussie

J Pediatr Urol· October 2014

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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.
Anne-Sophie Lia-Baldini, Corinne Magdelaine, Angélique Nizou, Coraline Airault, Jean-Pierre Salles, Anne Lienhardt-Roussie

Eur J Endocrinol· February 2013

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[Height and weight delay in growth].
Anne Lienhardt-Roussie

Rev Prat· October 2011

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A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Julie Sarfati, Anne Guiochon-Mantel, Philippe Rondard, Isabelle Arnulf, Alfons Garcia-Piñero, Anne Lienhardt-Roussie

J Clin Endocrinol Metab· February 2010

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Catherine Dodé, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Anne Lienhardt-Roussie

PLoS Genet· October 2006

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Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.
Laurent Meeus, Brigitte Gilbert, Catherine Rydlewski, Jasmine Parma, Anne Lienhardt Roussie

J Clin Endocrinol Metab· September 2004

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