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

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1

一名携带POLD1基因Cys-B区新发错义变异的患者出现轻度MDPL

Chopra, Maya; Caswell, Richard; Barcia, Giulia; Rondeau, Sophie; Jonard, Laurence; Nitchké, Patrick; Amram, Daniel; Bellaiche, Marc-Lionel; Abadie, Veronique; Parodi, Marine; Denoyelle, Francoise; Hattersley, Andrew; Bole, Christine; Lyonnet, Stanislas; Marlin, Sandrine

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

未确诊先天性多发性关节挛缩症的表型谱和基因组学

Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

更正:MTOR相关伊藤氏色素减退症伴神经发育异常的临床谱

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E R; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A; Faivre, Laurence; Vabres, Pierre

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

新发TBR1变异导致伴有智力障碍和自闭症特征的神经认知表型:25例新病例报告及文献综述

Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valérie; Amram, Daniel; Boute-Bénéjean, Odile; Bhoj, Elizabeth; Cousin, Margot A; Kruisselbrink, Teresa M; Lanpher, Brendan C; Klee, Eric W; Fiala, Elise; Grange, Dorothy K; Meschino, Wendy S; Hiatt, Susan M; Cooper, Gregory M; Olivié, Hilde; Smith, Wendy E; Dumas, Meghan; Lehman, Anna; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C; Pajusalu, Sander; Õunap, Katrin; Filiano, James J; Smol, Thomas; Piton, Amélie; Gérard, Bénédicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poé, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Rivière, Jean-Baptiste; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B; Hevner, Robert; Thauvin-Robinet, Christel

Considerations on the article De Bernardis, E., & Busà, L. (2020). A putative role for the tobacco mosaic virus in smokers' resistance to COVID-19 Medical Hypotheses, 110153

关于文章 De Bernardis, E., & Busà, L. (2020). A putative role for the tobacco mosaic virus in smokers' resistance to COVID-19 Medical Hypotheses, 110153 的思考

Zagà, Vincenzo; Amram, Daniel L; Mangiaracina, Giacomo; Cattaruzza, Maria Sofia

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

回复:ATAD1脑病和婴儿僵硬综合征:一种可识别的临床表现

Piard, Juliette; Essien Umanah, George K; Harms, Frederike L; Abalde-Atristain, Leire; Amram, Daniel; Chang, Melissa; Chen, Rong; Alawi, Malik; Salpietro, Vincenzo; Rees, Mark I; Chung, Seo-Kyung; Houlden, Henry; Verloes, Alain; Dawson, Ted M; Dawson, Valina L; Van Maldergem, Lionel; Kutsche, Kerstin

New insights into genotype-phenotype correlation for GLI3 mutations

GLI3突变基因型-表型相关性的新见解

Démurger, Florence; Ichkou, Amale; Mougou-Zerelli, Soumaya; Le Merrer, Martine; Goudefroye, Géraldine; Delezoide, Anne-Lise; Quélin, Chloé; Manouvrier, Sylvie; Baujat, Geneviève; Fradin, Mélanie; Pasquier, Laurent; Megarbané, André; Faivre, Laurence; Baumann, Clarisse; Nampoothiri, Sheela; Roume, Joëlle; Isidor, Bertrand; Lacombe, Didier; Delrue, Marie-Ange; Mercier, Sandra; Philip, Nicole; Schaefer, Elise; Holder, Muriel; Krause, Amanda; Laffargue, Fanny; Sinico, Martine; Amram, Daniel; André, Gwenaelle; Liquier, Alain; Rossi, Massimiliano; Amiel, Jeanne; Giuliano, Fabienne; Boute, Odile; Dieux-Coeslier, Anne; Jacquemont, Marie-Line; Afenjar, Alexandra; Van Maldergem, Lionel; Lackmy-Port-Lis, Marylin; Vincent-Delorme, Catherine; Chauvet, Marie-Liesse; Cormier-Daire, Valérie; Devisme, Louise; Geneviève, David; Munnich, Arnold; Viot, Géraldine; Raoul, Odile; Romana, Serge; Gonzales, Marie; Encha-Razavi, Ferechte; Odent, Sylvie; Vekemans, Michel; Attie-Bitach, Tania

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M