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Long-Term Efficacy and Safety of Rituximab in Patients With Pemphigus Foliaceus Compared With Pemphigus Vulgaris 利妥昔单抗在落叶型天疱疮患者中的长期疗效与安全性，并与寻常型天疱疮进行比较 Tedbirt, Billal; Houivet, Estelle; Maho-Vaillant, Maud; Golinski, Marie-Laure; Calbo, Sebastien; Prost-Squarcioni, Catherine; Labeille, Bruno; Picard-Dahan, Catherine; Chaby, Guillaume; Richard, Marie-Aleth; Tancrede-Bohin, Emmanuelle; Duvert-Lehembre, Sophie; Delaporte, Emmanuel; Bernard, Philippe; Caux, Frederic; Alexandre, Marina; Musette, Philippe; Ingen-Housz-Oro, Saskia; Vabres, Pierre; Quereux, Gaelle; Dupuy, Alain; Debarbieux, Sebastien; Avenel-Audran, Martine; D'Incan, Michel; Bedane, Christophe; Beneton, Nathalie; Jullien, Denis; Dupin, Nicolas; Misery, Laurent; Machet, Laurent; Beylot-Barry, Marie; Dereure, Olivier; Sassolas, Bruno; Cordel, Nadege; Jeudy, Geraldine; Benichou, Jacques; Hebert, Vivien; Joly, Pascal 分享 收藏
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017) ACTRT1及其增强子RNA元件的突变导致遗传性和散发性基底细胞癌中Hedgehog信号通路的异常激活（卷23，页1226，2017）。 Bal, Elodie; Park, Hyun-Sook; Belaid-Choucair, Zakia; Kayserili, Huelya; Naville, Magali; Madrange, Marine; Chiticariu, Elena; Hadj-Rabia, Smail; Cagnard, Nicolas; Kuonen, Francois; Bachmann, Daniel; Huber, Marcel; Le Gall, Cindy; Cote, Francine; Hanein, Sylvain; Rosti, Rasim oezguer; Aslanger, Ayca Dilruba; Waisfisz, Quinten; Bodemer, Christine; Hermine, Olivier; Morice-Picard, Fanny; Labeille, Bruno; Caux, Frederic; Mazereeuw-Hautier, Juliette; Philip, Nicole; Levy, Nicolas; Taieb, Alain; Avril, Marie-Francoise; Headon, Denis J.; Gyapay, Gabor; Magnaldo, Thierry; Fraitag, Sylvie; Crollius, Hugues Roest; Vabres, Pierre; Hohl, Daniel; Munnich, Arnold; Smahi, Asma 分享 收藏
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Correspondence on The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2 by Lai et al Horta, Edgar; Dahlen, Eric; Engel, Camille; Piard, Juliette; Thauvin-Robinet, Christel; Faivre, Laurence; Vabres, Pierre; Kuentz, Paul 分享 收藏
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 色素失禁是胸腺发育不良，I型ifn自身抗体和病毒性疾病的基础 Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent 分享 收藏
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome Kuentz, Paul; Engel, Camille; Laeng, Mathieu; Chevarin, Martin; Duffourd, Yannis; Martel, Jehanne; Piard, Juliette; Morice-Picard, Fanny; Aubert, Helene; Bessis, Didier; Guerrot, Anne-Marie; Maruani, Annabel; Boccara, Olivia; Mazereeuw-Hautier, Juliette; Ott, Hagen; Phan, Alice; Puzenat, Eve; Quelin, Chloe; Thauvin-Robinet, Christel; Faivre, Laurence; Vabres, Pierre 分享 收藏
Sustained Remission Without Corticosteroids Among Patients With Pemphigus Who Had Rituximab as First-Line Therapy Follow-Up of the Ritux 3 Trial Tedbirt, Billal; Maho-Vaillant, Maud; Houivet, Estelle; Mignard, Claire; Golinski, Marie-Laure; Calbo, Sebastien; Prost-Squarcioni, Catherine; Labeille, Bruno; Picard-Dahan, Catherine; Chaby, Guillaume; Richard, Marie-Aleth; Tancrede-Bohin, Emmanuelle; Duvert-Lehembre, Sophie; Delaporte, Emmanuel; Bernard, Philippe; Caux, Frederic; Alexandre, Marina; Musette, Philippe; Ingen-Housz-Oro, Saskia; Vabres, Pierre; Quereux, Gaelle; Dupuy, Alain; Debarbieux, Sebastien; Avenel-Audran, Martine; D'Incan, Michel; Bedane, Christophe; Beneton, Nathalie; Jullien, Denis; Dupin, Nicolas; Misery, Laurent; Machet, Laurent; Beylot-Barry, Marie; Dereure, Olivier; Sassolas, Bruno; Benichou, Jacques; Joly, Pascal; Hebert, Vivien 分享 收藏
Clinical phenotype of the Klippel-Trenaunay syndrome with mosaic PIK3R1 mutations Vabres, Pierre; Engel, Camille; Bessis, Didier; Morice-Picard, Fanny; Aubert, Helene; Isidor, Bertrand; Phan, Alice; Boccara, Olivia; Mazereeuw-Hautier, Juliette; Maruani-Raphael, Annabel; Puzenat, Eve; Kuentz, Paul 分享 收藏
Alpelisib for treatment of patients with PIK3CA- related overgrowth spectrum (PROS) Alpelisib用于治疗与PIK3CA相关的过度生长谱 (PROS) 的患者 Canaud, Guillaume; Gutierrez, Juan Carlos Lopez; Irvine, Alan D.; Vabres, Pierre; Hansford, Jordan R.; Ankrah, Nii; Branle, Fabrice; Papadimitriou, Athanasia; Ridol, Antonia; O'Connell, Paul; Turner, Stuart; Adams, Denise M. 分享 收藏
Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases Orly, Jordan; Bisdorff, Annouk; Fraissenon, Antoine; Joly, Aline; Boulouis, Gregoire; Guibaud, Laurent; Tavernier, Elsa; Mallet, Stephanie; Marcelin, Clement; Miquel, Juliette; Martin, Ludovic; Droitcourt, Catherine; Gusdorf, Laurence; Abas, Claire; Dadban, Ali; Chiaverini, Christine; Vabres, Pierre; Herbreteau, Denis; Boccara, Olivia; Wassef, Michel; Maruani, Annabel 分享 收藏
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma PTPN11嵌合体引起一系列色素和血管神经皮肤疾病，并易患黑色素瘤 Polubothu, Satyamaanasa; Bender, Nicole; Muthiah, Siobhan; Zecchin, Davide; Demetriou, Charalambos; Martin, Sara Barberan; Malhotra, Sony; Travnickova, Jana; Zeng, Zhiqiang; Boehm, Markus; Barbarot, Sebastien; Cottrell, Catherine; Davies, Olivia; Baselga, Eulalia; Burrows, Nigel P.; Carmignac, Virginie; Diaz, Joey Santiago; Fink, Christine; Haenssle, Holger A.; Happle, Rudolf; Harland, Mark; Majerowski, Jacquelyn; Vabres, Pierre; Vincent, Marie; Newton-Bishop, Julia A.; Bishop, D. Tim; Siegel, Dawn; Patton, E. Elizabeth; Topf, Maya; Rajan, Neil; Drolet, Beth; Kinsler, Veronica A. 分享 收藏
Anti-BP180 IgG antibody ELISA values correlate with adverse pregnancy outcomes in pemphigoid gestationis Cordel, Nadege; Flament, Jasmine; Jouen, Fabienne; Seta, Vannina; Tancrede-Bohin, Emmanuelle; Dahan, Catherine Picard; Konstantinou, Maria-Polina; Dereure, Olivier; Quereux, Gaelle; Prost, Catherine; Bedane, Christophe; Debarbieux, Sebastien; Lacour, Jean-Philippe; Dompmartin, Anne; Wierzbicka-Hainaut, Ewa; Villada, Isabelle Bourgault; Oro, Saskia Ingen Housz; Vabres, Pierre; Richard, Marie-Aleth; Delaporte, Emmanuel; Pham-Ledard, Anne; Leccia, Marie-Therese; Litrowski, Noemie; Michel, Catherine; Lagrange, Brigitte; D'Incan, Michel; Abasq, Claire; Duvert-Lehembre, Sophie; Dupuy, Alain; Alcaraz, Isabelle; Breton-Guitarian, Anne-Laure; Lombart, Florian; Esteve, Eric; Machet, Laurent; Del Giudice, Pascal; Fenot, Marion; Belmondo, Thibaut; Morin, Florence; Guerin, Olivia; Benichou, Jacques; Tressieres, Benoit; Joly, Pascal 分享 收藏
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A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort Garret, Philippine; Chevarin, Martin; Vitobello, Antonio; Verdez, Simon; Fournier, Cyril; Verloes, Alain; Tisserant, Emilie; Vabres, Pierre; Prevel, Orlane; Philippe, Christophe; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Mau-Them, Frederic Tran; Safraou, Hana; Boughalem, Aicha; Costa, Jean-Marc; Trost, Detlef; Thauvin-Robinet, Christel; Faivre, Laurence; Duffourd, Yannis 分享 收藏
Quality of life of children with capillary malformations of the lower limbs: Evolution and associated factors. Data from the French national paediatric cohort, CONAPE Robert, J.; Marchand, A.; Mazereeuw-Hautier, J.; Boccara, O.; Martin, L.; Chiaverini, C.; Beneton, N.; Vabres, P.; Balguerie, X.; Plantin, P.; Bessis, D.; Barbarot, S.; Dadban, A.; Droitcourt, C.; Samimi, M.; Morel, B.; Caille, A.; Maruani, A.; Leducq, S. 分享 收藏
Vascular endothelial growth factor, tissue factor, coagulation and fibrinolysis markers in slow-flow vascular malformations: a prospective study of treatment with sirolimus Maruani, Annabel; Moineau, Anne-Guillemette; Boccara, Olivia; Mazereeuw-Hautier, Juliette; Leducq, Sophie; Bessis, Didier; Guibaud, Laurent; Vabres, Pierre; Mallet, Stephanie; Barbarot, Sebastien; Chiaverini, Christine; Droitcourt, Catherine; Bursztejn, Anne-Claire; Lengelle, Celine; Woillard, Jean-Baptiste; Herbreteau, Denis; Le Touze, Anne; Binet, Aurelien; Morel, Baptiste; Bourgoin, Helene; Gissot, Valerie; Giraudeau, Bruno; Gruel, Yves; Tavernier, Elsa; Rollin, Jerome 分享 收藏
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