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

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort

国际队列研究中儿童烟雾病遗传图谱及临床意义

Zanoni, Paolo; Steindl, Katharina; Sticht, Heinrich; Oneda, Beatrice; Joset, Pascal; Ivanovski, Ivan; Horn, Anselm H C; Cabello, Elena M; Laube, Julia; Zweier, Markus; Baumer, Alessandra; Rauch, Anita; Khan, Nadia

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

首次报道羟甲基胆烷合酶基因低频嵌合突变导致急性间歇性卟啉症

Belosevic, Adrian; Minder, Anna-Elisabeth; Gueuning, Morgan; van Breemen, Franziska; Thun, Gian Andri; Mattle-Greminger, Maja P; Meyer, Stefan; Baumer, Alessandra; Minder, Elisabeth I; Schneider-Yin, Xiaoye; Barman-Aksözen, Jasmin

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

评估孕前扩大携带者筛查在降低神经发育障碍残余风险方面的临床应用价值

Boonsawat, Paranchai; Horn, Anselm H C; Steindl, Katharina; Baumer, Alessandra; Joset, Pascal; Kraemer, Dennis; Bahr, Angela; Ivanovski, Ivan; Cabello, Elena M; Papik, Michael; Zweier, Markus; Oneda, Beatrice; Sirleto, Pietro; Burkhardt, Tilo; Sticht, Heinrich; Rauch, Anita

Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

确认奥格登综合征是一种由复发性NAA10变异引起的X连锁隐性致死性疾病,并回顾相关文献

Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer, Alessandra; Gerth-Kahlert, Christina; Tutschek, Boris; Rauch, Anita

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

隐性遗传在早发性癫痫性脑病中的作用:一项结合全外显子组测序和拷贝数分析的研究

Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

辛普森-戈拉比-贝梅尔综合征(SGBS)的CUGC

Vuillaume, Marie-Laure; Moizard, Marie-Pierre; Baumer, Alessandra; Cottereau, Edouard; Brioude, Frédéric; Rauch, Anita; Toutain, Annick

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

临床和实验证据表明,KIF7 与 C5orf42 相关纤毛病之间存在通过 Sonic Hedgehog 信号通路进行的联系。

Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Schinzel-Giedion 综合征和血液系统恶性肿瘤中 SETBP1 功能获得性突变的重叠

Acuna-Hidalgo Rocio, Deriziotis Pelagia, Steehouwer Marloes, Gilissen Christian, Graham Sarah A, van Dam Sipko, Hoover-Fong Julie, Telegrafi Aida B, Destree Anne, Smigiel Robert, Lambie Lindsday A, Kayserili Hülya, Altunoglu Umut, Lapi Elisabetta, Uzielli Maria Luisa, Aracena Mariana, Nur Banu G, Mihci Ercan, Moreira Lilia M A, Borges Ferreira Viviane, Horovitz Dafne D G, da Rocha Katia M, Jezela-Stanek Aleksandra, Brooks Alice S, Reutter Heiko, Cohen Julie S, Fatemi Ali, Smitka Martin, Grebe Theresa A, Di Donato Nataliya, Deshpande Charu, Vandersteen Anthony, Marques Lourenço Charles, Dufke Andreas, Rossier Eva, Andre Gwenaelle, Baumer Alessandra, Spencer Careni, McGaughran Julie, Franke Lude, Veltman Joris A, De Vries Bert B A, Schinzel Albert, Fisher Simon E, Hoischen Alexander, van Bon Bregje W

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome

科芬-洛瑞综合征患者复发性非惊厥性癫痫持续状态

Gschwind, Markus; Foletti, Giovanni; Baumer, Alessandra; Bottani, Armand; Novy, Jan