Search Results - "Kastner, Claire"

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development by Van Der Kelen, Annelore, Okutman, Özlem, Javey, Elodie, Serdarogullari, Münevver, Janssens, Charlotte, Ghosh, Manjusha S, Dequeker, Bart J H, Perold, Florence, Kastner, Claire, Kieffer, Emmanuelle, Segers, Ingrid, Gheldof, Alexander, Hes, Frederik J, Sermon, Karen, Verpoest, Willem, Viville, Stéphane

“…As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields…”
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PGD for de novo mutation: when mosaicism prevents PGD setup and leads to genetic counselling revision by Kieffer, Emmanuelle, Nicod, Jean-Christophe, Gardes, Nathalie, Kastner, Claire, Gosset, Philippe, Moutou, Céline

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P-50 - PGD for de novo mutation: when mosaicism prevents PGD setup and leads to genetic counselling revision by Kieffer, Emmanuelle, Nicod, Jean-Christophe, Gardes, Nathalie, Kastner, Claire, Gosset, Philippe, Moutou, Céline

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Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France by Lançon, Allan, Beaudouin, Amandine, Lambert, Laetitia, Baurand, Amandine, Petit, Estelle, Schaefer, Elise, Poirsier, Céline, Piard, Juliette, Patay, Léa, Garde, Aurore, Bournez, Marie, Bertolone, Geoffrey, Kastner, Claire, Tempé, Laurine, El Chehadeh, Salima, Spodenkiewick, Marta, Lissy, Lola, Doco-Fenzy, Martine, Cabrol, Christelle, Trouvé, Chloé, Brischoux, Elise Boucher, Cloteau, Mélanie, Burtin, Alexia, Renaud, Mathilde, Riviere, Axelle, Quentin, Thomas, De Souza, Clément Simao, Sawka, Caroline, Racine, Caroline, Robert, Marion, Gautier, Elodie, Delanne, Julian, Bertaut, Aurélie, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie

“…In France, few centres per region offer genetics consultations. Consequently, each centre covers a large area, often requiring patients to take a day off to…”
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Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests by Kieffer, Emmanuelle, Nicod, Jean-Christophe, Gardes, Nathalie, Kastner, Claire, Becker, Nicolas, Celebi, Catherine, Pirrello, Olivier, Rongières, Catherine, Koscinski, Isabelle, Gosset, Philippe, Moutou, Céline

“…Fragile X syndrome (FraX) is caused by the expansion of an unstable CGG repeat located in the Fragile X mental retardation 1 gene (FMR1) gene. Preimplantation…”
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