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

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma

PTPN11 嵌合体可导致一系列色素性和血管性神经皮肤疾病,并易患黑色素瘤

Satyamaanasa Polubothu,Nicole Bender,Siobhan Muthiah,Davide Zecchin,Charalambos Demetriou,Sara Barberan Martin,Sony Malhotra,Jana Travnickova,Zhiqiang Zeng,Markus Böhm,Sebastien Barbarot,Catherine Cottrell,Olivia Davies,Eulalia Baselga,Nigel P Burrows,Virginie Carmignac,Joey Santiago Diaz,Christine Fink,Holger A Haenssle,Rudolf Happle,Mark Harland,Jacquelyn Majerowski,Pierre Vabres,Marie Vincent,Julia A Newton-Bishop,D Tim Bishop,Dawn Siegel,E Elizabeth Patton,Maya Topf,Neil Rajan,Beth Drolet,Veronica A Kinsler

Becker's Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB

贝克尔痣综合征伴乳腺发育不全,由ACTB基因合子后突变引起

Ramspacher, Jeanne; Carmignac, Virginie; Vabres, Pierre; Mazereeuw-Hautier, Juliette

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial

西罗莫司(雷帕霉素)治疗儿童慢流速畸形:PERFORMUS 观察性随机临床试验

Maruani, Annabel; Tavernier, Elsa; Boccara, Olivia; Mazereeuw-Hautier, Juliette; Leducq, Sophie; Bessis, Didier; Guibaud, Laurent; Vabres, Pierre; Carmignac, Virginie; Mallet, Stéphanie; Barbarot, Sébastien; Chiaverini, Christine; Droitcourt, Catherine; Bursztejn, Anne-Claire; Lengellé, Céline; Woillard, Jean-Baptiste; Herbreteau, Denis; Le Touze, Anne; Joly, Aline; Léauté-Labrèze, Christine; Powell, Julie; Bourgoin, Hélène; Gissot, Valérie; Giraudeau, Bruno; Morel, Baptiste

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

伴有神经发育异常的 MTOR 相关伊藤色素减退症的临床表现

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Victoria E R Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoît Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Véronique Darm

Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

Shprintzen-Goldberg 综合征中的 SKI 基因突变通过 SKI 稳定作用导致 TGF-β 反应减弱

Ilaria Gori, Roger George, Andrew G Purkiss, Stephanie Strohbuecker, Rebecca A Randall, Roksana Ogrodowicz, Virginie Carmignac, Laurence Faivre, Dhira Joshi, Svend Kjær, Caroline S Hill

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

Short-term impact of fire on the total soil microbial and nitrifier communities in a wet savanna

火灾对湿润稀树草原土壤微生物和硝化菌群落的短期影响

Srikanthasamy, Tharaniya; Barot, Sébastien; Koffi, Fulgence K; Tambosco, Kevin; Marcangeli, Yoan; Carmignac, David; N'Dri, Aya Brigitte; Gervaix, Jonathan; Le Roux, Xavier; Lata, Jean-Christophe

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review

McCune Albright 综合征女性的生育能力:以 AMH 作为卵巢功能障碍标志物的案例研究和文献综述

Mikaël Agopiantz, Arthur Sorlin, Pierre Vabres, Bruno Leheup, Virginie Carmignac, Catherine Malaplate-Armand, Catherine Diligent, Céline Bonnet, Guillaume Gauchotte

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

Vps13b 通过参与高尔基体动态和膜运输,对顶体生物发生必不可少

Romain Da Costa, Morgane Bordessoules, Magali Guilleman, Virginie Carmignac, Vincent Lhussiez, Hortense Courot, Amandine Bataille, Amandine Chlémaire, Céline Bruno, Patricia Fauque, Christel Thauvin, Laurence Faivre, Laurence Duplomb

Unidirectional response to bidirectional selection on body size. I. Phenotypic, life-history, and endocrine responses

对体型双向选择的单向响应。I. 表型、生活史和内分泌响应

Renneville, Clémentine; Millot, Alexis; Agostini, Simon; Carmignac, David; Maugars, Gersende; Dufour, Sylvie; Le Rouzic, Arnaud; Edeline, Eric