From geoheritage inventory to territorial planning tool in the Vercors massif (French Alps): Contribution of statistical and expert cross approaches von Poiraud, Alexandre, Chevalier, Mylène, Claeyssen, Bertrand, Biron, Pierre-Eymard, Joly, Bertrand

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Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation von Capri, Yline, Friesema, Edith C.H., Kersseboom, Simone, Touraine, Renaud, Monnier, Aurélie, Eymard-Pierre, Eléonore, Des Portes, Vincent, De Michele, Giusseppe, Brady, Angela F., Boespflug-Tanguy, Odile, Visser, Theo J., Vaurs-Barriere, Catherine

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TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer von Gay-Bellile, Mathilde, Véronèse, Lauren, Combes, Patricia, Eymard-Pierre, Eleonore, Kwiatkowski, Fabrice, Dauplat, Marie-Mélanie, Cayre, Anne, Privat, Maud, Abrial, Catherine, Bignon, Yves-Jean, Mouret-Reynier, Marie-Ange, Vago, Philippe, Penault-Llorca, Frédérique, Tchirkov, Andrei

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Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation von Dorboz, Imen, Dumay-Odelot, Hélene, Boussaid, Karima, Bouyacoub, Yosra, Barreau, Pauline, Samaan, Simon, Jmel, Haifa, Eymard-Pierre, Eleonore, Cances, Claude, Bar, Céline, Poulat, Anne-Lise, Rousselle, Christophe, Renaldo, Florence, Elmaleh-Bergès, Monique, Teichmann, Martin, Boespflug-Tanguy, Odile

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Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome von Goumy, Carole, Laffargue, Fanny, Eymard-Pierre, Eléonore, Kemeny, Stéphen, Gay-Bellile, Mathilde, Gouas, Laetiti, Gallot, Denis, Francannet, Christine, Tchirkov, Andrei, Pebrel-Richard, Céline, Vago, Philippe

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Early Telomere Shortening and Genomic Instability in Tubo-Ovarian Preneoplastic Lesions von CHENE, Gautier, TCHIRKOV, Andrei, PIERRE-EYMARD, Eleonore, DAUPLAT, Jacques, RAOELFILS, Ines, CAYRE, Anne, WATKIN, Emmanuel, VAGO, Philippe, PENAULT-LLORCA, Frederique

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Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene von Eymard-Pierre, Eleonore, Lesca, Gaetan, Dollet, Sandra, Santorelli, Filippo Maria, di Capua, Matteo, Bertini, Enrico, Boespflug-Tanguy, Odile

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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 von Pebrel-Richard, Céline, Debost-Legrand, Anne, Eymard-Pierre, Eléonore, Greze, Victoria, Kemeny, Stéphan, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Vago, Philippe, Goumy, Carole, Francannet, Christine

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Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage von Salaun, Gaëlle, Tchirkov, Andrei, Francannet, Christine, Pons, Hanae, Brugnon, Florence, Pebrel-Richard, Celine, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Goumy, Carole

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Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations von Fogli, Anne, Rodriguez, Diana, Eymard-Pierre, Eléonore, Bouhour, Françoise, Labauge, Pierre, Meaney, Brandon F., Zeesman, Susan, Kaneski, Christine R., Schiffmann, Raphael, Boespflug-Tanguy, Odile

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Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome von Sarret, Catherine, Ashkavand, Zahra, Paules, Evan, Dorboz, Imen, Pediaditakis, Peter, Sumner, Susan, Eymard-Pierre, Eléonore, Francannet, Christine, Krupenko, Natalia I., Boespflug-Tanguy, Odile, Krupenko, Sergey A.

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De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate von Goumy, Carole, Gay-Bellile, Mathilde, Eymard-Pierre, Eléonore, Kemeny, Stephan, Gouas, Laetitia, Déchelotte, Pierre, Gallot, Denis, Véronèse, Lauren, Tchirkov, Andrei, Pebrel-Richard, Céline, Vago, Philippe

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Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay von Pebrel-Richard, Celine, Rouzade, Charles, Kemeny, Stephan, Eymard-Pierre, Eleonore, Gay-Bellile, Mathilde, Gouas, Laetitia, Tchirkov, Andreï, Goumy, Carole, Vago, Philippe

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The effect of genotype on the natural history of eIF2B-related leukodystrophies von FOGLI, A, SCHIFFMANN, R, SURTEES, R, PUGIN, D, CHAUNU, M.-P, RODRIGUEZ, D, BOESPFLUG-TANGUY, O, BERTINI, E, UGHETTO, S, COMBES, P, EYMARD-PIERRE, E, KANESKI, C. R, PINEDA, M, TRONCOSO, M, UZIEL, G

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Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities von Mourgues, Charline, Eymard-Pierre, Eléonore, Laurichesse-Delmas, Hélène, Gerbaud, Laurent, Gouas, Laëtitia, Pébrel-Richard, Céline, Vago, Philippe, Debost-Legrand, Anne, Goumy, Carole

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Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination von Goumy, Carole, Ouedraogo, Zangbéwendé Guy, Bellemonte, Elodie, Eymard-Pierre, Eleonore, Soler, Gwendoline, Perthus, Isabelle, Pebrel-Richard, Céline, Gouas, Laetitia, Salaun, Gaëlle, Véronèse, Lauren, Laurichesse, Hélène, Darcha, Claude, Tchirkov, Andrei

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A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation von Goumy, Carole, Gay-Bellile, Mathilde, Salaun, Gaelle, Kemeny, Stephan, Eymard-Pierre, Eleonore, Biard, Marie, Pebrel-Richard, Celine, Vanlieferinghen, Philippe, Francannet, Christine, Tchirkov, Andrei, Laurichesse, Helene, Rouzade, Charles, Gouas, Laetitia, Vago, Philippe

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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus von Fogli, Anne, Wong, Kondi, Eymard-Pierre, Eleonore, Wenger, Jack, Bouffard, John-Paul, Goldin, Ehud, Black, Deborah N., Boespflug-Tanguy, Odile, Schiffmann, Raphael

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Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype von Kemeny, Stephan, Brugnon, Florence, Eymard-Pierre, Eléonore, Goumy, Carole, Janny, Laurent, Tchirkov, Andreï, Francannet, Christine, Vago, Philippe, Pebrel-Richard, Céline

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Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype von Gouas, Laetitia, Kémény, Stéphan, Beaufrère, Anne-Marie, Eymard-Pierre, Eléonore, Pebrel-Richard, Céline, Tchirkov, Andrei, Lemery, Didier, Laurichesse-Delmas, Hélène, Vago, Philippe, Goumy, Carole

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