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

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

影响纤连蛋白-1 的 TB5 结构域的致病性变异:不仅见于胶状骨发育不良/肢端骨发育不良,也见于马凡综合征。

Arnaud, Pauline; Mougin, Zakaria; Baujat, Genevieve; Drouin-Garraud, Valérie; El Chehadeh, Salima; Gouya, Laurent; Odent, Sylvie; Jondeau, Guillaume; Boileau, Catherine; Hanna, Nadine; Le Goff, Carine

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

TTC12 功能丧失突变导致原发性纤毛运动障碍,并揭示运动纤毛与鞭毛中不同的动力蛋白组装机制

Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield, Guillaume Thouvenin, Andre Coste, Bruno Louis, Claire Szymanski, Emilie Bequignon, Jean-François Papon, Manon Castelli, Michel Lemullois, Xavier Dhalluin, Valérie Drouin-Garraud, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Flore

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

自闭症谱系障碍罕见遗传易感变异评估:检出率和实际应用

Husson, Thomas; Lecoquierre, François; Cassinari, Kevin; Charbonnier, Camille; Quenez, Olivier; Goldenberg, Alice; Guerrot, Anne-Marie; Richard, Anne-Claire; Drouin-Garraud, Valérie; Brehin, Anne-Claire; Soleimani, Maryam; Taton, Romain; Rotharmel, Maud; Rosier, Antoine; Chambon, Pascal; Le Meur, Nathalie; Joly-Helas, Géraldine; Saugier-Veber, Pascale; Boland, Anne; Deleuze, Jean-François; Olaso, Robert; Frebourg, Thierry; Nicolas, Gael; Guillin, Olivier; Campion, Dominique

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

RIT1基因突变会导致努南综合征,并可能伴有幼年型骨髓单核细胞白血病,但与急性淋巴细胞白血病无关。

Cavé, Hélène; Caye, Aurélie; Ghedira, Nehla; Capri, Yline; Pouvreau, Nathalie; Fillot, Natacha; Trimouille, Aurélien; Vignal, Cédric; Fenneteau, Odile; Alembik, Yves; Alessandri, Jean-Luc; Blanchet, Patricia; Boute, Odile; Bouvagnet, Patrice; David, Albert; Dieux Coeslier, Anne; Doray, Bérénice; Dulac, Olivier; Drouin-Garraud, Valérie; Gérard, Marion; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Lyonnet, Stanislas; Perrin, Laurence; Rio, Marlène; Roume, Joëlle; Sauvion, Sylvie; Toutain, Annick; Vincent-Delorme, Catherine; Willems, Marjorie; Baumann, Clarisse; Verloes, Alain

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

性别作为影响1型强直性肌营养不良表型严重程度和死亡率的调节因素:一项基于全国多数据库的横断面观察研究

Dogan, Celine; De Antonio, Marie; Hamroun, Dalil; Varet, Hugo; Fabbro, Marianne; Rougier, Felix; Amarof, Khadija; Arne Bes, Marie-Christine; Bedat-Millet, Anne-Laure; Behin, Anthony; Bellance, Remi; Bouhour, Françoise; Boutte, Celia; Boyer, François; Campana-Salort, Emmanuelle; Chapon, Françoise; Cintas, Pascal; Desnuelle, Claude; Deschamps, Romain; Drouin-Garraud, Valerie; Ferrer, Xavier; Gervais-Bernard, Helene; Ghorab, Karima; Laforet, Pascal; Magot, Armelle; Magy, Laurent; Menard, Dominique; Minot, Marie-Christine; Nadaj-Pakleza, Aleksandra; Pellieux, Sybille; Pereon, Yann; Preudhomme, Marguerite; Pouget, Jean; Sacconi, Sabrina; Sole, Guilhem; Stojkovich, Tanya; Tiffreau, Vincent; Urtizberea, Andoni; Vial, Christophe; Zagnoli, Fabien; Caranhac, Gilbert; Bourlier, Claude; Riviere, Gerard; Geille, Alain; Gherardi, Romain K; Eymard, Bruno; Puymirat, Jack; Katsahian, Sandrine; Bassez, Guillaume

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

先天性促性腺激素低下性性腺功能减退症伴手足分裂畸形:一种FGFR1基因突变发生率高的临床疾病

Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A; Sykiotis, Gerasimos P; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Baraitser-Winter 脑额面综合征:42 例病例的谱系描述

Verloes, Alain; Di Donato, Nataliya; Masliah-Planchon, Julien; Jongmans, Marjolijn; Abdul-Raman, Omar A; Albrecht, Beate; Allanson, Judith; Brunner, Han; Bertola, Debora; Chassaing, Nicolas; David, Albert; Devriendt, Koen; Eftekhari, Pirayeh; Drouin-Garraud, Valérie; Faravelli, Francesca; Faivre, Laurence; Giuliano, Fabienne; Guion Almeida, Leina; Juncos, Jorge; Kempers, Marlies; Eker, Hatice Koçak; Lacombe, Didier; Lin, Angela; Mancini, Grazia; Melis, Daniela; Lourenço, Charles Marques; Siu, Victoria Mok; Morin, Gilles; Nezarati, Marjan; Nowaczyk, Malgorzata J M; Ramer, Jeanette C; Osimani, Sara; Philip, Nicole; Pierpont, Mary Ella; Procaccio, Vincent; Roseli, Zeichi-Seide; Rossi, Massimiliano; Rusu, Cristina; Sznajer, Yves; Templin, Ludivine; Uliana, Vera; Klaus, Mirjam; Van Bon, Bregje; Van Ravenswaaij, Conny; Wainer, Bruce; Fry, Andrew E; Rump, Andreas; Hoischen, Alexander; Drunat, Séverine; Rivière, Jean-Baptiste; Dobyns, William B; Pilz, Daniela T

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

利用靶向高通量测序进行智力障碍分子诊断的有效策略

Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, Nicolas; Alembik, Yves; Barth, Magalie; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Doray, Bérénice; Delrue, Marie-Ange; Drouin-Garraud, Valérie; Flori, Elisabeth; Fradin, Mélanie; Francannet, Christine; Goldenberg, Alice; Lumbroso, Serge; Mathieu-Dramard, Michèle; Martin-Coignard, Dominique; Lacombe, Didier; Morin, Gilles; Polge, Anne; Sukno, Sylvie; Thauvin-Robinet, Christel; Thevenon, Julien; Doco-Fenzy, Martine; Genevieve, David; Sarda, Pierre; Edery, Patrick; Isidor, Bertrand; Jost, Bernard; Olivier-Faivre, Laurence; Mandel, Jean-Louis; Piton, Amélie

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

29例患有PMM2型先天性糖基化障碍的法国成年患者:经典儿科表型的结局及迟发性表型的描述

Monin, Marie-Lorraine; Mignot, Cyril; De Lonlay, Pascale; Héron, Bénédicte; Masurel, Alice; Mathieu-Dramard, Michèle; Lenaerts, Catherine; Thauvin, Christel; Gérard, Marion; Roze, Emmanuel; Jacquette, Aurélia; Charles, Perrine; de Baracé, Claire; Drouin-Garraud, Valérie; Khau Van Kien, Philippe; Cormier-Daire, Valérie; Mayer, Michèle; Ogier, Hélène; Brice, Alexis; Seta, Nathalie; Héron, Delphine

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

肌动蛋白基因 ACTB 和 ACTG1 的新生突变导致 Baraitser-Winter 综合征

Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, Stanislav S Kholmanskikh, Brian J O'Roak, Christian Gilissen, Sabine Gijsen, Christopher T Sullivan, Susan L Christian, Omar A Abdul-Rahman, Joan F Atkin, Nicolas Chassaing, Valerie Drouin-Garraud, Andrew E Fry, Jean-Pierre Fryns, Karen