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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination

利用自然流产或治疗性妊娠终止后胎盘和脐带样本进行光学基因组图谱绘制的可行性

Goumy, Carole; Ouedraogo, Zangbéwendé Guy; Bellemonte, Elodie; Eymard-Pierre, Eleonore; Soler, Gwendoline; Perthus, Isabelle; Pebrel-Richard, Céline; Gouas, Laetitia; Salaun, Gaëlle; Véronèse, Lauren; Laurichesse, Hélène; Darcha, Claude; Tchirkov, Andrei

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

Optical genome mapping enables constitutional chromosomal aberration detection

光学基因组图谱能够检测构成性染色体畸变。

Mantere, Tuomo; Neveling, Kornelia; Pebrel-Richard, Céline; Benoist, Marion; van der Zande, Guillaume; Kater-Baats, Ellen; Baatout, Imane; van Beek, Ronald; Yammine, Tony; Oorsprong, Michiel; Hsoumi, Faten; Olde-Weghuis, Daniel; Majdali, Wed; Vermeulen, Susan; Pauper, Marc; Lebbar, Aziza; Stevens-Kroef, Marian; Sanlaville, Damien; Dupont, Jean Michel; Smeets, Dominique; Hoischen, Alexander; Schluth-Bolard, Caroline; El Khattabi, Laïla

Is BRCA2 involved in early onset colorectal cancer risk?

BRCA2基因与早发性结直肠癌风险有关吗?

Gay-Bellile, Mathilde; Privat, Maud; Martins, Alexandra; Caputo, Sandrine M; Pebrel-Richard, Céline; Cavaillé, Mathias; Viala, Sandrine; Corsini, Carole; Rodrigues, Michael; Barnich, Nicolas; Bidet, Yannick; Uhrhammer, Nancy; Bignon, Yves-Jean

Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology

克氏综合征患者特发性中枢性性早熟:促性腺激素水平和病理生理学要点

Maqdasy, Salwan; Barres, Bertrand; Salaun, Gaelle; Batisse-Lignier, Marie; Pebrel-Richard, Celine; Kwok, Kelvin H M; Labbé, André; Touraine, Philippe; Brugnon, Florence; Tauveron, Igor

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

通过微阵列和减数分裂分离研究对一名患有不孕症但表型正常的患者的der(10)t(10;18)进行表征

Kemeny, Stephan; Brugnon, Florence; Eymard-Pierre, Eléonore; Goumy, Carole; Janny, Laurent; Tchirkov, Andreï; Francannet, Christine; Vago, Philippe; Pebrel-Richard, Céline

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

突触前高亲和力胆碱转运体受损导致先天性肌无力综合征和发作性呼吸暂停

Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, 

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

包含 POU3F2 基因的 6q16.1 小片段缺失会导致肥胖易感性和不同程度的发育迟缓,并伴有智力障碍

Kasher, Paul R; Schertz, Katherine E; Thomas, Megan; Jackson, Adam; Annunziata, Silvia; Ballesta-Martinez, María J; Campeau, Philippe M; Clayton, Peter E; Eaton, Jennifer L; Granata, Tiziana; Guillén-Navarro, Encarna; Hernando, Cristina; Laverriere, Caroline E; Liedén, Agne; Villa-Marcos, Olaya; McEntagart, Meriel; Nordgren, Ann; Pantaleoni, Chiara; Pebrel-Richard, Céline; Sarret, Catherine; Sciacca, Francesca L; Wright, Ronnie; Kerr, Bronwyn; Glasgow, Eric; Banka, Siddharth

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

一项法国多中心研究纳入了700多例经FISH或aCGH诊断为22q11缺失的患者。

Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine