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Your search keyword '"Lehalle, Daphné"' showing total 6 results
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6 results on '"Lehalle, Daphné"'

1. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille

Published
2024
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2. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Author

Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, and Bielas, Stephanie L.

Published
2024
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3. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Werren, Elizabeth A, Peirent, Emily R, Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K L I, Giltay, Jacques C, Oegema, Renske, van Jaarsveld, Richard H, Rafiullah, Rafiullah, Rappold, Gudrun A, Rabin, Rachel, Pappas, John G, Wheeler, Marsha M, Bamshad, Michael J, Tsan, Yao-Chang, Johnson, Matthew B, Keegan, Catherine E, Srivastava, Anshika, Bielas, Stephanie L, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Werren, Elizabeth A, Peirent, Emily R, Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K L I, Giltay, Jacques C, Oegema, Renske, van Jaarsveld, Richard H, Rafiullah, Rafiullah, Rappold, Gudrun A, Rabin, Rachel, Pappas, John G, Wheeler, Marsha M, Bamshad, Michael J, Tsan, Yao-Chang, Johnson, Matthew B, Keegan, Catherine E, Srivastava, Anshika, and Bielas, Stephanie L

Published
2024

4. Growth charts in DYRK1A syndrome

Author

Lanvin, Pierre-Louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thévenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne-Marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, Vincent, Marie, Lanvin, Pierre-Louis, Goronflot, Thomas, Isidor, Bertrand, Nizon, Mathilde, Durand, Benjamin, El Chehadeh, Salima, Geneviève, David, Ruault, Valentin, Fradin, Mélanie, Pasquier, Laurent, Thévenon, Julien, Delobel, Bruno, Burglen, Lydie, Afenjar, Alexandra, Faivre, Laurence, Francannet, Christine, Guerrot, Anne-Marie, Goldenberg, Alice, Mercier, Sandra, Héron, Delphine, Lehalle, Daphné, Mignot, Cyril, Marey, Isabelle, Charles, Perrine, Moutton, Sébastien, Bézieau, Stéphane, Bayat, Allan, Piton, Amélie, Willems, Marjolaine, and Vincent, Marie

Abstract

DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0-5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome.

Published
2024

5. Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

Author

Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Björn, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphné, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Désirée, Donge, Mylène, Deb, Wallid, De La Rosa Poueriet, Katlin A., Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, and Jamra, Rami Abou

Abstract

Heterozygous pathogenic variants in NTRK2(HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation

Published
2024
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6. Growth charts in DYRK1A syndrome.

Author

Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, and Vincent M

Subjects
Male, Female, Child, Humans, Growth Charts, Syndrome, Body Mass Index, Body Height genetics, Microcephaly diagnosis, Microcephaly genetics, Intellectual Disability diagnosis, Intellectual Disability genetics
Abstract

DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0-5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome., (© 2023 Wiley Periodicals LLC.)

Published
2024
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