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

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1

利用多模态成像技术对CYP2U1新型复合杂合变异体的视网膜表型进行表征

Sallo, Ferenc B; Dysli, Chantal; Holzer, Franz Josef; Ranza, Emmanuelle; Guipponi, Michel; Antonarakis, Stylianos E; Munier, Francis L; Bird, Alan C; Schorderet, Daniel F; Rossillion, Beatrice; Vaclavik, Veronika

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

肌联蛋白相关家族性扩张型心肌病:与疾病发病相关的因素

Johnson, Renee; Fletcher, Robert A; Peters, Stacey; Ohanian, Monique; Soka, Magdalena; Smolnikov, Andrei; Abihider, Katherine E; Ackerman, Michael J; Ader, Flavie; Akhtar, Mohammed M; Amin, Ahmad S; Ashley, Euan A; Atherton, John J; Austin, Rachel; Baas, Annette F; Bagnall, Richard D; Ross, Samantha Barratt; Blouin, Jean-Louis; Brown, Emily E; Bundgaard, Henning; Cannie, Douglas; Chmielewski, Przemyslaw; Correnti, Gemma; Crespo-Leiro, Maria Generosa; Dal Ferro, Matteo; Dellefave-Castillo, Lisa M; Dominguez, Fernando; Dooijes, Dennis; Dybro, Anne M; Ed Demri, Youssef; El Hachmi, Mohamed; Escobar-Lopez, Luis; Foye, Sarah Jajesnica; Franaszczyk, Maria; Gigli, Marta; Lopez, Esther Gonzalez; Goudal, Adeline; Graw, Sharon; Guipponi, Michel; Haan, Eric; Haas, Jan; Hammersley, Daniel J; Hansen, Frederikke G; Hayward, Christopher S; Hey, Thomas Morris; Heymans, Stephane; Ho, Carolyn Y; Houweling, Arjan C; Ingles, Jodie; Ingrey, Angela; Jabbour, Andrew; James, Paul A; Jansweijer, Joeri A; Jongbloed, Jan D H; Keogh, Anne M; Larrañaga-Moreira, Jose M; Lekanne Deprez, Ronald H; Macciocca, Ivan; Macdonald, Peter S; Mansencal, Nicolas; Mansour, Julia; Martinez-Veira, Cristina; McDonough, Barbara; McGaughran, Julie; Medo, Kristen; Merlo, Marco; Michalak, Ewa; Monserrat, Lorenzo; Mountain, Helen; Muller, Steven A; Murphy, Anne M; Murray, Brittney; Oates, Emily C; Ormondroyd, Elizabeth; Pachter, Nicholas; Paldino, Alessia; Palmyre, Aurélien; Pereira, Naveen L; Picard, Kermshlise C; Poplawski, Nicola; Prasad, Sanjay; Proukhnitzky, Julie; Pruny, Jean-Francois; Reant, Patricia; Richard, Pascale; Ronan, Anne; Sedaghat-Hamedani, Farbod; Semsarian, Christopher; Storm, Garrett; Stroeks, Sophie; Syrris, Petros; Taylor, Matthew R G; Thomson, Kate; Thompson, Tina; van Tintelen, J Peter; Vissing, Christoffer Rasmus; Waddell-Smith, Kathryn E; Wallis, Mathew; Zentner, Dominica; Arnott, Clare; Marian, Ali J; Oh, Jaewon; Fokstuen, Siv; James, Cynthia A; Barriales-Villa, Roberto; Meder, Benjamin; Wahbi, Karim; Giudicessi, John R; Parikh, Victoria N; Ware, James S; Piriou, Nicolas; Rooryck, Caroline; Lakdawala, Neal K; Mestroni, Luisa; Sinagra, Gianfranco; Elliott, Perry M; Watkins, Hugh; McNally, Elizabeth M; Charron, Philippe; van Spaendonck-Zwarts, Karin Y; Garcia-Pavia, Pablo; Peña-Peña, Maria Luisa; Mogensen, Jens; Christensen, Alex Hoerby; Bilińska, Zofia T; Rasmussen, Torsten B; Seidman, Jonathan G; Seidman, Christine E; Te Riele, Anneline S J M; Verdonschot, Job A J; Pinto, Yigal M; Christiaans, Imke; Fatkin, Diane

Brain malformations and seizures by impaired chaperonin function of TRiC

TRiC分子伴侣功能受损导致脑畸形和癫痫发作

Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo

Variable Intrafamilial Expression of ABCB4 Disease

ABCB4疾病的家族内表达差异

Zampaglione, Lucia; Rougemont, Anne-Laure; Rubbia-Brandt, Laura; Abramowicz, Marc; Guipponi, Michel; Marchionni, Enrica; Valerie, McLin; Goossens, Nicolas

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

多个组蛋白H4基因中反复出现的新生错义突变是神经发育综合征的根本原因。

Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs

A homozygous duplication of the <I>FGG</i> exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family

<I>FGG</i> 外显子 8-内含子 8 连接处的纯合重复会导致先天性无纤维蛋白原血症。从对一个土耳其近亲家族的研究中汲取的经验教训

Guipponi, Michel; Masclaux, Frédéric; Sloan-Béna, Frédérique; Di Sanza, Corinne; Özbek, Namik; Peyvandi, Flora; Menegatti, Marzia; Casini, Alessandro; Malbora, Baris; Neerman-Arbez, Marguerite

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

SHANK1 基因的截短变体与一系列神经发育障碍有关

Halie J May #, Jaehoon Jeong #, Anya Revah-Politi, Julie S Cohen, Anna Chassevent, Julia Baptista, Evan H Baugh, Louise Bier, Armand Bottani, Maria Teresa Carminho A Rodrigues, Charles Conlon, Joel Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Ran

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

听力损失患者中致病性OTOA基因转换的分子特征

Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; Oza, Andrea; Murphy, Elissa; Vannier, Anne; Béna, Frédérique Sloan; Carminho-Rodrigues, Maria Teresa; Blouin, Jean-Louis; Cao Van, Hélène; Abramowicz, Marc; Paoloni-Giacobino, Ariane; Guipponi, Michel

Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis

ERGIC1基因双等位基因缺失会导致相对较轻的关节挛缩症。

Marconi, Caterina; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; Fluss, Joël; Extermann, Philippe; Mendez, Purificacion; Leuchter, Russia Ha-Vinh; Stathaki, Elissavet; Laurent, Sacha; Hammar, Eva; Vannier, Anne; Varvagiannis, Konstantinos; Guipponi, Michel; Sloan-Bena, Frédérique; Blouin, Jean-Louis; Abramowicz, Marc; Fokstuen, Siv

MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination

MCF2 与复杂的侧裂周围综合征有关,并影响皮质层状结构。

Molinard-Chenu, Aude; Fluss, Joël; Laurent, Sacha; Laurent, Méryle; Guipponi, Michel; Dayer, Alexandre G