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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Published in:
Nature Genetics, 2001, v. 27, n. 2, p. 159, doi. 10.1038/84781
By:
- Crisponi, Laura;
- Deiana, Manila;
- Loi, Angela;
- Chiappe, Francesca;
- Uda, Manuela;
- Amati, Patrizia;
- Bisceglia, Luigi;
- Zelante, Leopoldo;
- Nagaraja, Ramaiah;
- Porcu, Susanna;
- Serafina Ristaldi, M.;
- Marzella, Rosalia;
- Rocchi, Mariano;
- Nicolino, Marc;
- Lienhardt-Roussie, Anne;
- Nivelon, Annie;
- Verloes, Alain;
- Schlessinger, David;
- Gasparini, Paolo
Publication type:
Article
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.
Published in:
2016
By:
- Parween, Shaheena;
- Boulez, Florence Roucher;
- Flück, Christa E;
- Lienhardt-Roussie, Anne;
- Mallet, Delphine;
- Morel, Yves;
- Pandey, Amit V;
- Roucher-Boulez, Florence
Publication type:
journal article
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 659, doi. 10.1210/jc.2009-0843
By:
- Sarfati, Julie;
- Guiochon-Mantel, Anne;
- Rondard, Philippe;
- Arnulf, Isabelle;
- Garcia-Piñero, Alfons;
- Wolczynski, Slawomir;
- Brailly-Tabard, Sylvie;
- Bidet, Maud;
- Ramos-Arroyo, Maria;
- Mathieu, Michèle;
- Lienhardt-Roussie, Anne;
- Morgan, Graeme;
- Turki, Zinet;
- Bremont, Catherine;
- Lespinasse, James;
- Boullay, Hélène Du;
- Chabbert-Buffet, Nathalie;
- Jacquemont, Sébastien;
- Reach, Gérard;
- De Talence, Nicole
Publication type:
Article
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1103, doi. 10.1515/jpem-2015-0261
By:
- Savas-Erdeve, Senay;
- Sagsak, Elif;
- Keskin, Meliksah;
- Magdelaine, Corinne;
- Lienhardt-Roussie, Anne;
- Kurnaz, Erdal;
- Cetinkaya, Semra;
- Aycan, Zehra
Publication type:
Article
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.
Published in:
European Journal of Endocrinology, 2013, v. 168, n. 2, p. K27, doi. 10.1530/EJE-12-0714
By:
- Lia-Baldini, Anne-Sophie;
- Magdelaine, Corinne;
- Nizou, Angélique;
- Airault, Coraline;
- Salles, Jean-Pierre;
- Moulin, Pierre;
- Delemer, Brigitte;
- Aitouares, Mina;
- Funalot, Benoît;
- Sturtz, Franck;
- Lienhardt-Roussie, Anne
Publication type:
Article
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
Published in:
Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00491
By:
- Goursaud, Claire;
- Mallet, Delphine;
- Janin, Alexandre;
- Menassa, Rita;
- Tardy-Guidollet, Véronique;
- Russo, Gianni;
- Lienhardt-Roussie, Anne;
- Lecointre, Claudine;
- Plotton, Ingrid;
- Morel, Yves;
- Roucher-Boulez, Florence
Publication type:
Article
Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series.
Published in:
Hormone Research in Paediatrics, 2020, v. 93, n. 5, p. 304, doi. 10.1159/000511419
By:
- Flot, Claire;
- Porquet-Bordes, Valérie;
- Bacchetta, Justine;
- Rothenbuhler, Anya;
- Lienhardt-Roussie, Anne;
- Giabicani, Eloise;
- Gueorguieva, Iva;
- Storey, Caroline;
- Linglart, Agnès;
- Salles, Jean-Pierre;
- Edouard, Thomas
Publication type:
Article
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.
Published in:
PLoS Genetics, 2006, v. 3, n. 4, p. 1648, doi. 10.1371/journal.pgen.0020175
By:
- Dodé, Catherine;
- Teixeira, Luis;
- Levilliers, Jacqueline;
- Fouveaut, Corinne;
- Bouchard, Philippe;
- Kottler, Marie-Laure;
- Lespinasse, James;
- Lienhardt-Roussie, Anne;
- Mathieu, Michèle;
- Moerman, Alexandre;
- Morgan, Graeme;
- Murat, Arnaud;
- Toublanc, Jean-Edmont;
- Wolczynski, Slawomir;
- Delpech, Marc;
- Petit, Christine;
- Young, Jacques;
- Hardelin, Jean-Pierre
Publication type:
Article

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