Výsledky vyhledávání - Guimiot, Fabien

Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations Autor Anquetil, Aude, Khung Savatovsky, Suonavy, Gavard, Laurent, Bazin, Anne, Guimiot, Fabien, Dubourg, Christele, Mandelbrot, Laurent, Picone, Olivier

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions Autor Teixeira, Luis, Guimiot, Fabien, Dodé, Catherine, Fallet-Bianco, Catherine, Millar, Robert P., Delezoide, Anne-Lise, Hardelin, Jean-Pierre

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Cloaca in Discordant Monoamniotic Twins: Prenatal Diagnosis and Consequence for Fetal Lung Development Autor Chitrit, Yvon, Vuillard, Edith, Khung, Sunavy, Belarbi, Nadia, Guimiot, Fabien, Muller, Francoise, Ghoneimi, Alaa El, Oury, Jean Francois

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Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria Autor Cipriani, Sara, Journiac, Nathalie, Nardelli, Jeannette, Verney, Catherine, Delezoide, Anne-Lise, Guimiot, Fabien, Gressens, Pierre, Adle-Biassette, Homa

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CAMSAPs organize an acentrosomal microtubule network from basal varicosities in radial glial cells Autor Coquand, Laure, Victoria, Guiliana Soraya, Tata, Alice, Carpentieri, Jacopo Amerigo, Brault, Jean-Baptiste, Guimiot, Fabien, Fraisier, Vincent, Baffet, Alexandre D.

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Tonate Virus and Fetal Abnormalities, French Guiana, 2019 Autor Lambert, Veronique, Enfissi, Antoine, Lefebvre, Mathilde, Pomar, Leo, Kedous, Sobhi, Guimiot, Fabien, Carles, Gabriel, Lavergne, Anne, Rousset, Dominique, Hcini, Najeh

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Single-Cell Transcriptomic Analyses of the Developing Meninges Reveal Meningeal Fibroblast Diversity and Function Autor DeSisto, John, O’Rourke, Rebecca, Jones, Hannah E., Pawlikowski, Bradley, Malek, Alexandra D., Bonney, Stephanie, Guimiot, Fabien, Jones, Kenneth L., Siegenthaler, Julie A.

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Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms Autor Haldipur, Parthiv, Dang, Derek, Aldinger, Kimberly A, Janson, Olivia K, Guimiot, Fabien, Adle-Biasette, Homa, Dobyns, William B, Siebert, Joseph R, Russo, Rosa, Millen, Kathleen J

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CD4(+)CD8(+) T-Lymphocytes in Xenogeneic and Human Graft-versus-Host Disease Autor Alhaj Hussen, Kutaiba, Michonneau, David, Biajoux, Vincent, Keita, Seydou, Dubouchet, Laetitia, Nelson, Elisabeth, Setterblad, Niclas, Le Buanec, Helene, Bouaziz, Jean-David, Guimiot, Fabien, Socié, Gérard, Canque, Bruno

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Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2 Autor Letard, Pascaline, Schepers, Dorien, Albuisson, Juliette, Bruneval, Patrick, Spaggiari, Emmanuel, Van de Beek, Gerarda, Khung-Savatovsky, Suonavy, Belarbi, Nadia, Capri, Yline, Delezoide, Anne-Lise, Loeys, Bart, Guimiot, Fabien

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3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome Autor Dupont, Celine, Bucourt, Martine, Guimiot, Fabien, Kraoua, Lilia, Smiljkovski, Daniel, Le Tessier, Dominique, Lebugle, Camille, Gerard, Benedicte, Spaggiari, Emmanuel, Bourdoncle, Pierre, Tabet, Anne-Claude, Benzacken, Brigitte, Dupont, Jean-Michel

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Studies in an Early Development Window Unveils a Severe HSC Defect in both Murine and Human Fanconi Anemia Autor Domenech, Carine, Maillard, Loïc, Rousseau, Alix, Guidez, Fabien, Petit, Laurence, Pla, Marika, Clay, Denis, Guimiot, Fabien, Sanfilippo, Sandra, Jacques, Sebastien, de la Grange, Pierre, Robil, Noémie, Soulier, Jean, Souyri, Michèle

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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene Autor Saugier-Veber, Pascale, Marguet, Florent, Lecoquierre, François, Adle-Biassette, Homa, Guimiot, Fabien, Cipriani, Sara, Patrier, Sophie, Brasseur-Daudruy, Marie, Goldenberg, Alice, Layet, Valérie, Capri, Yline, Gérard, Marion, Frébourg, Thierry, Laquerrière, Annie

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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis Autor Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith

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CD117(hi) expression identifies a human fetal hematopoietic stem cell population with high proliferation and self-renewal potential Autor Maillard, Loïc, Sanfilippo, Sandra, Domenech, Carine, Kasmi, Nassima, Petit, Laurence, Jacques, Sébastien, Delezoide, Anne-Lise, Guimiot, Fabien, Eladak, Soria, Moison, Delphine, Nicolas, Nour, Rouiller-Fabre, Virginie, Pozzi-Godin, Stéphanie, Mennesson, Benoit, Brival, Marie-Laure, Letourneur, Franck, Jaffredo, Thierry, Chomienne, Christine, Souyri, Michèle

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly Autor Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia

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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly Autor Vuillaumier-Barrot, Sandrine, Bouchet-Séraphin, Céline, Chelbi, Malika, Devisme, Louise, Quentin, Samuel, Gazal, Steven, Laquerrière, Annie, Fallet-Bianco, Catherine, Loget, Philippe, Odent, Sylvie, Carles, Dominique, Bazin, Anne, Aziza, Jacqueline, Clemenson, Alix, Guimiot, Fabien, Bonnière, Maryse, Monnot, Sophie, Bole-Feysot, Christine, Bernard, Jean-Pierre, Loeuillet, Laurence, Gonzales, Marie, Socha, Koryna, Grandchamp, Bernard, Attié-Bitach, Tania, Encha-Razavi, Férechté, Seta, Nathalie

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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation Autor Haldipur, Parthiv, Bernardo, Silvia, Aldinger, Kimberly A., Sivakumar, Tarika, Millman, Jake, Sjoboen, Alexandria H., Dang, Derek, Dubocanin, Danilo, Deng, Mei, Timms, Andrew E., Davis, Brian D., Plummer, Jasmine T., Mankad, Kshitij, Oztekin, Ozgur, Manganaro, Lucia, Guimiot, Fabien, Adle-Biassette, Homa, Russo, Rosa, Siebert, Joseph R., Kidron, Debora, Petrilli, Giulia, Roux, Nathalie, Razavi, Ferechte, Glass, Ian A., Di Gioia, Cira, Silvestri, Evelina, Millen, Kathleen J.

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 Autor El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome Autor Huber, Céline, Delezoide, Anee-Lise, Guimiot, Fabien, Baumann, Clarisse, Malan, Valérie, Le Merrer, Martine, Da Silva, Daniela Bezerra, Bonneau, Dominique, Chatelain, Pierre, Chu, Carol, Clark, Robin, Cox, Helen, Edery, Patrick, Edouard, Thomas, Fano, Virginia, Gibson, Kate, Gillessen-Kaesbach, Gabriele, Giovannucci-Uzielli, Maria-Luisa, Graul-Neumann, Luitgard Margarete, van Hagen, Johana-Maria, van Hest, Liselot, Horovitz, Dafne, Melki, Judith, Partsch, Carl-Joachim, Plauchu, Henry, Rajab, Anna, Rossi, Massimiliano, Sillence, David, Steichen-Gersdorf, Elisabeth, Stewart, Helen, Unger, Sheila, Zenker, Martin, Munnich, Arnold, Cormier-Daire, Valérie

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