Resultats de la cerca - Lyonnet, Stanislas

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions per Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas, Jaubert, Francis, Besmond, Claude

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Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling per Clément-Ziza, Mathieu, Gentien, David, Lyonnet, Stanislas, Thiery, Jean-Paul, Besmond, Claude, Decraene, Charles

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Deletion of Pten in the mouse enteric nervous system induces ganglioneuromatosis and mimics intestinal pseudoobstruction per Puig, Isabel, Champeval, Delphine, De Santa Barbara, Pascal, Jaubert, Francis, Lyonnet, Stanislas, Larue, Lionel

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Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia per Cherkaoui Jaouad, Imane, Laarabi, Fatima Z., Chafai Elalaoui, Siham, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Sefiani, Abdelaziz

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Understanding the Basis of Auriculocondylar Syndrome: Insights From Human and Mouse Genetic Studies per Clouthier, David E., Passos Bueno, Maria Rita, Tavares, Andre L.P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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Diagnosis support systems for rare diseases: a scoping review per Faviez, Carole, Chen, Xiaoyi, Garcelon, Nicolas, Neuraz, Antoine, Knebelmann, Bertrand, Salomon, Rémi, Lyonnet, Stanislas, Saunier, Sophie, Burgun, Anita

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Nuclear Outsourcing of RNA Interference Components to Human Mitochondria per Bandiera, Simonetta, Rüberg, Silvia, Girard, Muriel, Cagnard, Nicolas, Hanein, Sylvain, Chrétien, Dominique, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra

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INTERACTION BETWEEN A CHROMOSOME 10 RET ENHANCER AND CHROMOSOME 21 IN THE DOWN SYNDROME-HIRSCHSPRUNG DISEASE ASSOCIATION per Arnold, Stacey, Pelet, Anna, Amiel, Jeanne, Borrego, Salud, Hofstra, Robert, Tam, Paul, Ceccherini, Isabella, Lyonnet, Stanislas, Sherman, Stephanie, Chakravarti, Aravinda

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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions per Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation per Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C.

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Nasal speech in patients with 12q15 microdeletions per Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome per Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence

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Human neural crest cells display molecular and phenotypic hallmarks of stem cells per Thomas, Sophie, Thomas, Marie, Wincker, Patrick, Babarit, Candice, Xu, Puting, Speer, Marcy C., Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Etchevers, Heather C.

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Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia per Bandiera, Simonetta, Cartault, François, Jannot, Anne-Sophie, Hatem, Elie, Girard, Muriel, Rifai, Laila, Loiseau, Clemence, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra

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A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus per Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, Buys, Charles H. C. M., Lyonnet, Stanislas, Chakravarti, Aravinda

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Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France per Rey, Françoise, Berthelon, Monique, Caillaud, Catherine, Lyonnet, Stanislas, Abadie, Véronique, Blandin-Savoja, Félicienne, Feingold, Josué, Saudubray, Jean-Marie, Frézal, Jean, Munnich, Arnold, Rey, Jean

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Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto... per Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence

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Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis per Chen, Xiaoyi, Faviez, Carole, Vincent, Marc, Briseño-Roa, Luis, Faour, Hassan, Annereau, Jean-Philippe, Lyonnet, Stanislas, Zaidan, Mohamad, Saunier, Sophie, Garcelon, Nicolas, Burgun, Anita

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Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients per Abadie, Véronique, Hamiaux, Priscilla, Ragot, Stéphanie, Legendre, Marine, Malecot, Gaelle, Burtin, Alexia, Attie-Bitach, Tania, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Vaivre-Douret, Laurence

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study per Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella

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