日期:
2020 年 — 2026 年
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Corrigendum: "Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome" EBioMedicine, 2025, Feb:112:105578

更正:“17q12缺失综合征中T辅助细胞1功能降低是复发性鼻窦肺部感染的根本原因” EBioMedicine,2025年2月:112:105578

Shin, Junghee J; Shin, Hyeon Jun; Gutierrez, Alan; Yoo, Noelle; Par-Young, Jennefer; Osmani, Lais; Shin, Min Sun; Sanchez-Lara, Pedro A; Bucala, Richard; Soffer, Gary; Kang, Insoo

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Impact of Negative Prostate-specific Membrane Antigen Positron Emission Tomography on the Decision to Perform a Pelvic Lymph Node Dissection During Radical Prostatectomy for Intermediate- to High-risk Prostate Cancer Patients: Results of an International Survey

前列腺特异性膜抗原正电子发射断层扫描阴性对中高危前列腺癌患者根治性前列腺切除术中行盆腔淋巴结清扫术决策的影响:一项国际调查的结果

Zattoni, Fabio; Rajwa, Pawel; Kasivisvanathan, Veeru; Sanchez, Lara Rodriguez; Fazekas, Tamás; Preisser, Felix; Kesch, Claudia; Martini, Alberto; Reitano, Giuseppe; Sigle, August; Olivier, Jonathan; Nicoletti, Rossella; Bernardino, Rui; Heidegger, Isabel; Bianchi, Lorenzo; Bauckneht, Matteo; Giganti, Francesco; Giesen, Alexander; Soeterik, Timo; van den Bergh, Roderick; Rivas, Juan Gomez; Dal Moro, Fabrizio; Russo, Giorgio Ivan; Gandaglia, Giorgio; Marra, Giancarlo

Advances in focal therapy for prostate cancer: current modalities, outcomes, and future directions

前列腺癌局部治疗的进展:现有疗法、疗效及未来方向

Roldan-Testillano, Rocio; Rodriguez-Sanchez, Lara; Covarrubias, Claudia; Durazo-Ruiz, Francisco; Arezki, Adel; Anidjar, Maurice; Sanchez-Salas, Rafael

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

PPP1R12A基因突变导致先天性空肠闭锁和身材矮小:一例儿科内分泌病例报告

Saul, Rosita; David, Maya; Frasch, Jordin; Sanchez-Lara, Pedro A; Schweiger, Bahareh M

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

利用人工智能驱动的基因型-表观基因型-表型方法解决综合征诊断难题

Mak, Christopher C Y; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K; Pisan, Elise; Chui, Martin M C; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C; Sanchez-Lara, Pedro A; Bombei, Hannah M; Bernat, John A; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clémence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E; Gordon, Christopher T; Doherty, Dan; Krawitz, Peter M; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H Y

Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome

17q12缺失综合征中,T辅助细胞1功能下降是导致复发性鼻窦肺部感染的根本原因。

Shin, Junghee J; Shin, Hyeon Jun; Gutierrez, Alan; Yoo, Noelle; Par-Young, Jennefer; Osmani, Lais; Shin, Min Sun; Sanchez-Lara, Pedro A; Bucala, Richard; Soffer, Gary; Kang, Insoo

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Established focal therapy-HIFU, IRE, or cryotherapy-where are we now?-a systematic review and meta-analysis

已建立的局部治疗——高强度聚焦超声(HIFU)、不可逆电穿孔(IRE)或冷冻疗法——我们现在处于什么阶段?——系统评价和荟萃分析

Tay, Kae Jack; Fong, Khi Yung; Stabile, Armando; Dominguez-Escrig, Jose Luis; Ukimura, Osamu; Rodriguez-Sanchez, Lara; Blana, Andreas; Becher, Ezequiel; Laguna, M Pilar