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

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

1p36缺失综合征:回顾和定位,并进一步表征其表型,一项包含86例患者的新队列研究

Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean-Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne-Claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, François; Doco-Fenzy, Martine

The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature

羟氯喹治疗成人ABCA3纯合复合等位基因患者间质性肺病的临床病程及文献回顾

Legendre, Marie; Darde, Xavier; Ferreira, Marion; Chantot-Bastaraud, Sandra; Campana, Marion; Plantier, Laurent; Nathan, Nadia; Amselem, Serge; Toutain, Annick; Diot, Patrice; Marchand-Adam, Sylvain

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

进一步阐明与BCAP31相关的智力障碍:描述17个携带功能缺失和错义变异的新家族

Whalen, Sandra; Shaw, Marie; Mignot, Cyril; Héron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoëlle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renée; Hartley, Jessica N; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent

Genotype Diversity and Spread of White Spot Syndrome Virus (WSSV) in Madagascar (2012-2016)

马达加斯加白斑综合征病毒(WSSV)的基因型多样性和传播(2012-2016 年)

Onihary, Alain Moïse; Razanajatovo, Iony Manitra; Rabetafika, Lydia; Bastaraud, Alexandra; Heraud, Jean-Michel; Rasolofo, Voahangy

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

当母系CYP24A1基因杂合突变通过20号染色体母系单亲二体性导致婴儿高钙血症时

Hureaux, Marguerite; Chantot-Bastaraud, Sandra; Cassinari, Kévin; Martinez Casado, Edouard; Cuny, Ariane; Frébourg, Thierry; Vargas-Poussou, Rosa; Bréhin, Anne-Claire

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

KMT2B相关疾病:表型谱的扩展及深部脑刺激的长期疗效

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A

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

Congenital immobility and stiffness related to biallelic ATAD1 variants

与双等位基因ATAD1变异相关的先天性活动受限和僵硬

Bunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michèle; Rodriguez, Diana; Burglen, Lydie; Léger, Pierre-Louis; Kieffer, François; Martin, Isabelle; Héron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Alexandra; Billette de Villemeur, Thierry; Mignot, Cyril

The impact of rainfall on drinking water quality in Antananarivo, Madagascar

降雨对马达加斯加首都塔那那利佛饮用水水质的影响

Bastaraud, Alexandra; Perthame, Emeline; Rakotondramanga, Jean-Marius; Mahazosaotra, Jackson; Ravaonindrina, Noro; Jambou, Ronan

Urbanization and Waterborne Pathogen Emergence in Low-Income Countries: Where and How to Conduct Surveys?

城市化与低收入国家水传播病原体的出现:在哪里以及如何开展调查?

Bastaraud, Alexandra; Cecchi, Philippe; Handschumacher, Pascal; Altmann, Mathias; Jambou, Ronan