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

Triple-negative breast lobular carcinoma: a luminal androgen receptor carcinoma with specific ESRRA mutations

三阴性乳腺小叶癌:具有特定 ESRRA 突变的管腔雄激素受体癌

Anthony Bergeron, Gaëtan MacGrogan, Aurélie Bertaut, Sylvain Ladoire, Patrick Arveux, Isabelle Desmoulins, Hervé Bonnefoi, Catherine Loustalot, Sophie Auriol, Françoise Beltjens, Emilie Degrolard-Courcet, Céline Charon-Barra, Corentin Richard, Romain Boidot, Laurent Arnould

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

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

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

RHOA 的合子后失活突变导致马赛克神经外胚层综合征

Pierre Vabres #, Arthur Sorlin #, Stanislav S Kholmanskikh #, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean-Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Alain Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Cat

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

常染色体隐性 SASH1 变异与一种新的遗传性皮肤病有关,该病伴有色素沉着缺陷、掌跖角化病和皮肤癌

Jean-Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean-Baptiste Rivière, Julien Thevenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie-Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Chri

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

FANCD1/BRCA2基因双等位基因突变导致原发性早发性结直肠癌的发生

Degrolard-Courcet, Emilie; Sokolowska, Joanna; Padeano, Marie-Martine; Guiu, Séverine; Bronner, Myriam; Chery, Carole; Coron, Fanny; Lepage, Côme; Chapusot, Caroline; Loustalot, Catherine; Jouve, Jean-Louis; Hatem, Cyril; Ferrant, Emmanuelle; Martin, Laurent; Coutant, Charles; Baurand, Amandine; Couillault, Gérard; Delignette, Alexandra; El Chehadeh, Salima; Lizard, Sarab; Arnould, Laurent; Fumoleau, Pierre; Callier, Patrick; Mugneret, Francine; Philippe, Christophe; Frebourg, Thierry; Jonveaux, Philippe; Faivre, Laurence

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

SKI基因外显子1的框内突变会导致显性Shprintzen-Goldberg综合征。

Carmignac, Virginie; Thevenon, Julien; Adès, Lesley; Callewaert, Bert; Julia, Sophie; Thauvin-Robinet, Christel; Gueneau, Lucie; Courcet, Jean-Benoit; Lopez, Estelle; Holman, Katherine; Renard, Marjolijn; Plauchu, Henri; Plessis, Ghislaine; De Backer, Julie; Child, Anne; Arno, Gavin; Duplomb, Laurence; Callier, Patrick; Aral, Bernard; Vabres, Pierre; Gigot, Nadège; Arbustini, Eloisa; Grasso, Maurizia; Robinson, Peter N; Goizet, Cyril; Baumann, Clarisse; Di Rocco, Maja; Sanchez Del Pozo, Jaime; Huet, Frédéric; Jondeau, Guillaume; Collod-Beroud, Gwenaëlle; Beroud, Christophe; Amiel, Jeanne; Cormier-Daire, Valérie; Rivière, Jean-Baptiste; Boileau, Catherine; De Paepe, Anne; Faivre, Laurence