Suchergebnisse - Amiel, Jeanne 

A human mutation in Phox2b causes lack of CO(2) chemosensitivity, fatal central apnea, and specific loss of parafacial neurons von Dubreuil, Véronique, Ramanantsoa, Nélina, Trochet, Delphine, Vaubourg, Vanessa, Amiel, Jeanne, Gallego, Jorge, Brunet, Jean-François, Goridis, Christo

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

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Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism von Li, Dong, Gordon, Christopher T, Oufadem, Myriam, Amiel, Jeanne, Kanwar, Harsh S, Bakay, Marina, Wang, Tiancheng, Hakonarson, Hakon, Levine, Michael A

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

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Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease von Fernández, Raquel María, Mathieu, Yves, Luzón-Toro, Berta, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Amiel, Jeanne, Borrego, Salud

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Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression von Nagashimada, Mayumi, Ohta, Hiroshi, Li, Chong, Nakao, Kazuki, Uesaka, Toshihiro, Brunet, Jean-François, Amiel, Jeanne, Trochet, Delphine, Wakayama, Teruhiko, Enomoto, Hideki

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Next generation phenotyping using narrative reports in a rare disease clinical data warehouse von Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien

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Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy von Valnot, Isabelle, Osmond, Sandrine, Gigarel, Nadine, Mehaye, Blandine, Amiel, Jeanne, Cormier-Daire, Valérie, Munnich, Arnold, Bonnefont, Jean-Paul, Rustin, Pierre, Rötig, Agnès

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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... von 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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Contiguous mutation syndrome in the era of high-throughput sequencing von Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence

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PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders von Bayat, Allan, Iqbal, Sumaiya, Borredy, Kim, Amiel, Jeanne, Zweier, Christiane, Barcia, Guilia, Kraus, Cornelia, Weyhreter, Heike, Bassuk, Alexander G., Chopra, Maya, Rubboli, Guido, Møller, Rikke S.

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Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish von Bhatia, Shipra, Gordon, Christopher T., Foster, Robert G., Melin, Lucie, Abadie, Véronique, Baujat, Geneviève, Vazquez, Marie-Paule, Amiel, Jeanne, Lyonnet, Stanislas, van Heyningen, Veronica, Kleinjan, Dirk A.

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Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma von Trochet, Delphine, Bourdeaut, Franck, Janoueix-Lerosey, Isabelle, Deville, Anne, de Pontual, Loïc, Schleiermacher, Gudrun, Coze, Carole, Philip, Nicole, Frébourg, Thierry, Munnich, Arnold, Lyonnet, Stanislas, Delattre, Olivier, Amiel, Jeanne

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PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome von Trochet, Delphine, O’Brien, Louise M., Gozal, David, Trang, Ha, Nordenskjöld, Agneta, Laudier, Béatrice, Svensson, Pär-Johan, Uhrig, Sabine, Cole, Trevor, Munnich, Arnold, Gaultier, Claude, Lyonnet, Stanislas, Amiel, Jeanne

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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion von Jackson, Carolyn C., Lefèvre-Utile, Alain, Guimier, Anne, Malan, Valérie, Bruneau, Julie, Gessain, Antoine, Cassar, Olivier, Amiel, Jeanne, Cobat, Aurélie, Rattina, Vimel, Abel, Laurent, Casanova, Jean-Laurent, Blanche, Stéphane

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Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance von Clayton-Smith, Jill, Walters, Sarah, Hobson, Emma, Burkitt-Wright, Emma, Smith, Rupert, Toutain, Annick, Amiel, Jeanne, Lyonnet, Stanislas, Mansour, Sahar, Fitzpatrick, David, Ciccone, Roberto, Ricca, Ivana, Zuffardi, Orsetta, Donnai, Dian

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ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development von Gacem, Nadjet, Kavo, Anthula, Zerad, Lisa, Richard, Laurence, Mathis, Stephane, Kapur, Raj P., Parisot, Melanie, Amiel, Jeanne, Dufour, Sylvie, de la Grange, Pierre, Pingault, Veronique, Vallat, Jean Michel, Bondurand, Nadege

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NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications von Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence

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Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients von Thouvenin, Béatrice, Soupre, Véronique, Caillaud, Marie-Anne, Henry-Mestelan, Charlotte, Chalouhi, Christel, Houssamo, Bachar, Chapuis, Cécile, Lind, Katia, Royer, Aurélie, Vegas, Nancy, Amiel, Jeanne, Couly, Gérard, Picard, Arnaud, Vaivre-Douret, Laurence, Abadie, Véronique

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Proceedings of the fourth international conference on central hypoventilation von Trang, Ha, Brunet, Jean-François, Rohrer, Hermann, Gallego, Jorge, Amiel, Jeanne, Bachetti, Tiziana, Fischbeck, Kenneth H, Similowski, Thomas, Straus, Christian, Ceccherini, Isabella, Weese-Mayer, Debra E, Frerick, Matthias, Bieganowska, Katarzyna, Middleton, Linda, Morandi, Francesco, Ottonello, Giancarlo

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