日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies

慢性疼痛患者中法布里病的患病率:从 DOUFAB 和 DOUFABIS 研究中吸取的教训

Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Caroline Rooryck, Dominique P Germain, Firas Jabbour, Anne-Sophie Blanchet, Alexandre Cauchie, Elisabeth Sarrazin, Rémi Bellance, Jean-Pascal Lefaucheur, Julie Bismuth, Stéphanie Ranque-Garnier, Virginie Corand,

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

转录组和乙酰化组分析揭示了鲁宾斯坦-泰比综合征中神经元分化的关键步骤

Julien Van Gils ,Slim Karkar ,Aurélien Barre ,Seyta Ley-Ngardigal ,Sophie Nothof ,Stéphane Claverol ,Caroline Tokarski ,Jean-Philippe Trani ,Raphael Chevalier ,Natacha Broucqsault ,Claire El Yazidi ,Didier Lacombe ,Patricia Fergelot ,Frédérique Magdinier

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

表观遗传标记在实践中的应用:对已发表的用于十种神经发育障碍分子诊断的表观遗传标记进行独立评估

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; Charbonnier, Camille

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

鲁宾斯坦-泰比综合征的诊断和治疗:首个国际共识声明

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Dominguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David F; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C

Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

作者更正:CBP-HSF2 在 Rubinstein-Taybi 神经发育障碍中的结构和功能相互作用

de Thonel, Aurélie; Ahlskog, Johanna K; Daupin, Kevin; Dubreuil, Véronique; Berthelet, Jérémy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluís Cordón; Leray, Isabelle; Aalto, Anna L; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carène; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C; Miozzo, Federico; Fergelot, Patricia; Lebigot, Élise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Sabéran-Djoneidi, Délara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valérie

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

KMT2A相关综合征中独特的全基因组DNA甲基化特征的临床应用

Foroutan, Aidin; Haghshenas, Sadegheh; Bhai, Pratibha; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Niceta, Marcello; Ciolfi, Andrea; Pedace, Lucia; Miele, Evelina; Genevieve, David; Heide, Solveig; Alders, Mariëlle; Zampino, Giuseppe; Merla, Giuseppe; Fradin, Mélanie; Bieth, Eric; Bonneau, Dominique; Dieterich, Klaus; Fergelot, Patricia; Schaefer, Elise; Faivre, Laurence; Vitobello, Antonio; Maitz, Silvia; Fischetto, Rita; Gervasini, Cristina; Piccione, Maria; van de Laar, Ingrid; Tartaglia, Marco; Sadikovic, Bekim; Lebre, Anne-Sophie

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

FLNA相关PVNH患者的心血管和结缔组织疾病特征:朝着更精细地描述该综合征迈进

Billon, Clarisse; Adham, Salma; Hernandez Poblete, Natalia; Legrand, Anne; Frank, Michael; Chiche, Laurent; Zuily, Stephane; Benistan, Karelle; Savale, Laurent; Zaafrane-Khachnaoui, Khaoula; Brehin, Anne-Claire; Bal, Laurence; Busa, Tiffany; Fradin, Mélanie; Quelin, Chloé; Chesneau, Bertrand; Wahl, Denis; Fergelot, Patricia; Goizet, Cyril; Mirault, Tristan; Jeunemaitre, Xavier; Albuisson, Juliette

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

对摩洛哥一系列鲁宾斯坦-泰比综合征患者的临床描述和突变谱分析

Siham Chafai Elalaoui ,Wiam Smaili ,Julien Van-Gils ,Patricia Fergelot ,Ilham Ratbi ,Mariam Tajir ,Benoit Arveiler ,Didier Lacombe ,Abdelaziz Sefiani

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

评估DNA甲基化表观遗传特征在42种孟德尔遗传性神经发育障碍的诊断和表型相关性

Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christèle; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, François; Saugier-Veber, Pascale; Nicolas, Gaël; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Mariëlle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Héron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M; Rousseau, Justine; Levy, Michael A; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer; Takano, Kyoko; Kleefstra, Tjitske; de Leeuw, Nicole; Field, Michael; Shaw, Marie; Gecz, Jozef; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Friez, Michael J; Tedder, Matt; Lee, Jennifer A; DuPont, Barbara R; Stevenson, Roger E; Skinner, Steven A; Schwartz, Charles E; Genevieve, David; Sadikovic, Bekim