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

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria

产前诊断及第四脑室明显开放患儿的神经发育结局:MRI诊断标准的挑战与陷阱

Schieffer, Léa; Garel, Catherine; Guibaud, Laurent; Rougeot-Jung, Christelle; Burglen, Lydie; Massoud, Mona; Ville, Dorothée; Blondiaux, Eléonore; Jouannic, Jean Marie; Cabet, Sara; DesPortes, Vincent; Valence, Stéphanie

PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect.

雪旺细胞中 PIK3CA 功能获得性突变通过非细胞自主效应导致严重的神经病变和有氧糖酵解

Venot Quitterie, Firpion Marina, Ladraa Sophia, Bayard Charles, Magassa Sato, Di Guardo Roberta, Fraissenon Antoine, Hoguin Clément, Protic Sanela, Morin Gabriel, Mayeux Franck, Gourdon Genevieve, Fraitag Sylvie, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Viel Thomas, Autret Gwennhael, Tavitian Bertrand, Goudin Nicolas, Guibaud Laurent, Bolino Alessandra, Canaud Guillaume

Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.

iSH2 结构域中的体细胞 PIK3R1 突变可被 PI3Kα 抑制剂治疗

Morin Gabriel, Garneau Alexandre P, Bouzakher Nabiha, Ségot Louise, Fraissenon Antoine, Blondel Amélie, Petit Florence, Chopinet Caroline, Mayeux Franck, Fayoux Pierre, Dompmartin Anne, Bodemer Christine, Balducci Estelle, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Legendre Christophe, Broissand Christine, Fraitag Sylvie, Quelin Chloé, Goudin Nicolas, Guibaud Laurent, Canaud Guillaume

A Pleiotropic and Functionally Divergent RAC3 Variant Disrupts Neurodevelopment and Impacts Organogenesis

具有多效性和功能多样性的RAC3变异体破坏神经发育并影响器官发生。

Sugawara, Ryota; Scala, Marcello; Cabet, Sara; Abel, Carine; Januel, Louis; Lesca, Gaetan; Guibaud, Laurent; Le Breton, Frédérique; Ueda, Hiroshi; Tabata, Hidenori; Ito, Hidenori; Nagata, Koh-Ichi

First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum

首例使用阿培利西布治疗PIK3CA相关过度生长谱系疾病后成功妊娠的报告

Morin, Gabriel; Fraissenon, Antoine; Chopinet, Caroline; Balducci, Estelle; Kaltenbach, Sophie; Villarese, Patrick; Asnafi, Vahid; Guibaud, Laurent; Canaud, Guillaume

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia

MPDZ致病变异导致梗阻性脑室扩大,与间脑融合和第三脑室闭锁相关

Cabet, Sara; Ghersi-Egea, Jean-François; Khung-Savatovsky, Suonavy; Guimiot, Fabien; Putoux, Audrey; Sabatier, Isabelle; Fernandez, Carla; Raymond, Laure; Mortreux, Jérémie; Laurichesse Delmas, Hélène; Cuillier, Fabrice Eric; Ho, Fabien; Lesca, Gaetan; Alessandri, Jean-Luc; Guibaud, Laurent

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol

一项评估alpelisib (BYL719)治疗巨脑畸形-毛细血管畸形-多小脑回综合征 (MCAP) 儿童和成人患者的疗效和安全性的II期双盲多中心安慰剂对照试验:SESAM研究方案

Luu, Maxime; Vabres, Pierre; Espitalier, Aurélie; Maurer, Agnès; Garde, Aurore; Racine, Caroline; Carpentier, Maud; Rega, Adélaide; Loffroy, Romaric; Hadouiri, Nawale; Boddaert, Nathalie; Curie, Aurore; Guibaud, Laurent; Chebbi, Mouna; Charligny, Julie; Kuentz, Paul; Canaud, Guillaume; Bahi-Buisson, Nadia; Fleck, Camille; Cransac, Amelie; Bardou, Marc; Faivre, Laurence

Multifocal lymphangioendotheliomatosis with thrombocytopenia: Report of a case with favorable outcome into adulthood

多灶性淋巴管内皮瘤病伴血小板减少症:一例预后良好的成年期病例报告

Kerrouch, Hasna; Gouillon, Laurie; Duclaux-Loras, Remi; Burillon, Carole; Kanitakis, Jean; Hjira, Naoufal; Guibaud, Laurent; Jullien, Denis

French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations

法国国家诊断和护理方案(PNDS,protocolé national de diagnostic et de soins):囊性淋巴管畸形

Leboulanger, Nicolas; Bisdorff, Annouk; Boccara, Olivia; Dompmartin, Anne; Guibaud, Laurent; Labreze, Christine; Lagier, Jacques; Lebrun-Vignes, Bénédicte; Herbreteau, Denis; Joly, Aline; Malloizel-Delaunay, Julie; Martel, Arnaud; Munck, Stéphane; Saint-Aubin, Frédérique; Maruani, Annabel

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

使用阿培利西布治疗两名患有PIK3CA相关过度生长谱系疾病的婴儿

Morin, Gabriel; Degrugillier-Chopinet, Caroline; Vincent, Marie; Fraissenon, Antoine; Aubert, Hélène; Chapelle, Célia; Hoguin, Clément; Dubos, François; Catteau, Benoit; Petit, Florence; Mezel, Aurélie; Domanski, Olivia; Herbreteau, Guillaume; Alesandrini, Marie; Boddaert, Nathalie; Boutry, Nathalie; Broissand, Christine; Han, Tianxiang Kevin; Branle, Fabrice; Sarnacki, Sabine; Blanc, Thomas; Guibaud, Laurent; Canaud, Guillaume