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Anne BARLIER on Muck Rack

Anne BARLIER

As seen in: Frontiers, The American Journal of Human Genetics
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Articles

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing

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By Emilie-Fleur Gautier, Marjorie Leduc, Salam Idriss, Sophie Couvé, Anne BARLIER, Guillaume Sarrabay, Nada Maaziz, Bruno Cassinat, Laurence Legros, Vincent Thibaud, Stephane Richard, François Girodon, Sylvie Tuffery-Giraud, Betty Gardie, Valéna Karaghiannis, Loïc Schmitt, Franck Chesnel, Julie Miro, Yannick Arlot
| The American Journal of Human Genetics Verified
Keywords splicing protein stability VHL Von Hippel-Lindau disease RNA-binding proteins RBPs hnRNPF hnRNPAB ESE ESS ACMG Get full text access Log in, subscribe or purchase for full access. References 1. Frew, I.J. ∙ Krek, W. pVHL: a multipurpose adaptor protein Sci. Signal. 2008; 1:pe30 2. Jaakkola, P. ∙ Mole, D.R. ∙ Tian, Y.M. ... Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation Science. 2001; 292:468-472 3.
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Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort

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By Maria Rosa, Antonino Catalano, Anne BARLIER, Ruchi Gaba
| Frontiers
Introduction Primary hyperparathyroidism (PHPT) is a common endocrine disorder, with an overall incidence of 13-78 per 100,000 person-years in the world (1). Owing to more widespread screening for hypercalcemia, this frequency has risen in recent years (1–3). The prevalence rises with age and typically exhibits a female predominance (1).
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