Search Results - "Faoucher, Marie"

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France by Lefèvre, Charles R, Labarthe, François, Dufour, Diane, Moreau, Caroline, Faoucher, Marie, Rollier, Paul, Arnoux, Jean-Baptiste, Tardieu, Marine, Damaj, Léna, Bendavid, Claude, Dessein, Anne-Frédérique, Acquaviva-Bourdain, Cécile, Cheillan, David

“…Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at…”
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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism by Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile

“…We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and…”
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Phenotypic characterisation of SMAD4 variant carriers by Caillot, Claire, Saurin, Jean-Christophe, Hervieu, Valérie, Faoucher, Marie, Reversat, Julie, Decullier, Evelyne, Poncet, Gilles, Bailly, Sabine, Giraud, Sophie, Dupuis-Girod, Sophie

“…Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by pathogenic variants, with overlapping…”
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Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant by Cospain, Auriane, Faoucher, Marie, Cauchois, Aurélie, Carre, Wilfrid, Quelin, Chloé, Dubourg, Christèle

“…Holoprosencephaly (HPE) is a clinically and genetically heterogeneous disease, which can be associated with various prenatal comorbidities not always…”
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The psychopharmacology of Wilson disease and other metabolic disorders by Faoucher, Marie, Demily, Caroline

“…Wilson disease (WD) is a hereditary metabolic disorder (HMD) caused by a mutation in the copper-transporting gene ATP7B affecting the liver and central nervous…”
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms by Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., Bellen, Hugo J.

“…SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial…”
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Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency by Pons, Linda, Sabatier, Isabelle, Alix, Eudeline, Faoucher, Marie, Labalme, Audrey, Sanlaville, Damien, Lesca, Gaetan

“…PIGC (OMIM 601730) encodes the PIGC protein, which is part of an enzyme complex involved in the biosynthesis of the glycosylphosphatidylinositol protein…”
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Genetics of neural tube defects: new candidate genes and complex mode of inheritance by Faoucher, Marie, Kim, Artem, Beaumont, Marie, Carre, Wilfrid, Journel, Hubert, Akloul, Linda, Pasquier, Laurent, Fradin, Mélanie, Quelin, Chloe, Manunta, Andrea, Watrin, Erwan, de Tayrac, Marie, Odent, Sylvie, Dubourg, Christèle, Dupe, Valerie, David, Véronique

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Skraban-Deardorff Syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui-Rambhajunsing, Varoona, Assoumani, Jessica, van Maldergem, Lionel, Piton, Amélie, Gerard, Bénédicte, Mau-Them, Frédéric Tran, Bruel, Ange-Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Melanie, Lavillaureix, Alinoe

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype by Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

“…Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using…”
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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients by Thomas, Hortense, Alix, Tom, Renard, Émeline, Renaud, Mathilde, Wourms, Justine, Zuily, Stéphane, Leheup, Bruno, Geneviève, David, Dreumont, Natacha, Schmitt, Emmanuelle, Bronner, Myriam, Muller, Marc, Divoux, Marion, Wandzel, Marion, Ravel, Jean-Marie, Dexheimer, Mylène, Becker, Aurélie, Roth, Virginie, Willems, Marjolaine, Coubes, Christine, Vieville, Gaëlle, Devillard, Françoise, Schaefer, Élise, Baer, Sarah, Piton, Amélie, Gérard, Bénédicte, Vincent, Marie, Nizon, Mathilde, Cogné, Benjamin, Ruaud, Lyse, Couque, Nathalie, Putoux, Audrey, Edery, Patrick, Lesca, Gaëtan, Chatron, Nicolas, Till, Marianne, Faivre, Laurence, Tran-Mau-Them, Frédéric, Alessandri, Jean-Luc, Lebrun, Marine, Quélin, Chloé, Odent, Sylvie, Dubourg, Christèle, David, Véronique, Faoucher, Marie, Mignot, Cyril, Keren, Boris, Pisan, Élise, Afenjar, Alexandra, Julia, Sophie, Bieth, Éric, Banneau, Guillaume, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lecoquierre, François, Nicolas, Gaël, Charbonnier, Camille, De Saint Martin, Anne, Naudion, Sophie, Degoutin, Manon, Rondeau, Sophie, Michot, Caroline, Cormier-Daire, Valérie, Oussalah, Abderrahim, Pourié, Carine, Lambert, Laëtitia, Bonnet, Céline

“…Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( )-overgrowth syndrome (DOS), was first described by…”
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DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations by Lavillaureix, Alinoë, Rollier, Paul, Kim, Artem, Panasenkava, Veranika, De Tayrac, Marie, Carré, Wilfrid, Guyodo, Hélène, Faoucher, Marie, Poirel, Elisabeth, Akloul, Linda, Quélin, Chloé, Whalen, Sandra, Bos, Jessica, Broekema, Marjoleine, van Hagen, Johanna M., Grand, Katheryn, Allen-Sharpley, Michelle, Magness, Emily, McLean, Scott D., Kayserili, Hülya, Altunoglu, Umut, En Qi Chong, Angie, Xue, Shifeng, Jeanne, Médéric, Almontashiri, Naif, Habhab, Wisam, Vanlerberghe, Clemence, Faivre, Laurence, Viora-Dupont, Eléonore, Philippe, Christophe, Safraou, Hana, Laffargue, Fanny, Mittendorf, Luisa, Abou Jamra, Rami, Patil, Siddaramappa Jagdish, Dalal, Ashwin, Sarma, Asodu Sandeep, Keren, Boris, Reversade, Bruno, Dubourg, Christèle, Odent, Sylvie, Dupé, Valérie

“…DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of…”
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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder by Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., Zweier, Christiane

“…LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but it has not been clearly…”
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Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë

“…Abstract Skraban‐Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in…”
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects by Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor L., Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis A.

“…We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants…”
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Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype by Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë

“…Skraban‐Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The…”
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The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies by Arnaud, Lionel, Abi Warde, Marie-Thérèse, Barcia, Giulia, de Bellescize, Julitta, Chatron, Nicolas, Faoucher, Marie, de Saint Martin, Anne, Héron, Delphine, Jedraszak, Guillaume, Lacoste, Caroline, Lèbre, Anne-Sophie, Jenneson-Lyver, Mélanie, Labalme, Audrey, Leguern, Eric, Mignot, Cyril, Milh, Mathieu, Nabbout, Rima, Nava, Caroline, Panagiotakaki, Eleni, Piton, Amélie, Schaefer, Elise, Thevenon, Julien, Villard, Laurent, Ville, Dorothée, Lesca, Gaetan

“…The EPIGENE network was created in 2014 by four multidisciplinary teams composed of geneticists, pediatric neurologists and neurologists specialized in…”
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A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism by Monin, Pauline, Reynaud, Nicolas, Hanna, Nadine, Dupuis-Girod, Sophie, Till, Marianne, Arnaud, Pauline, Labalme, Audrey, Alix, Eudeline, Poizat-Amar, Coline, Faoucher, Marie, Ravella, Lucie, Debost, Bernard, Obadia, Jean-François, Zech, Jean-Christophe, Boileau, Catherine, Sanlaville, Damien, Edery, Patrick, Putoux, Audrey, Schluth-Bolard, Caroline

“…In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of…”
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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism by Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile

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