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

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

BRF1 突变会改变 RNA 聚合酶 III 依赖性转录并导致神经发育异常

Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J Morris-Rosendahl, Jani

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

由于 BMP1 双等位基因突变导致纤维状前胶原和前装饰蛋白水解加工缺陷,导致严重的进行性成骨不全症

Delfien Syx, Brecht Guillemyn, Sofie Symoens, Ana Berta Sousa, Ana Medeira, Margo Whiteford, Trinh Hermanns-Lê, Paul J Coucke, Anne De Paepe, Fransiska Malfait

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update

一种与肾小球囊性肾病和新生儿肾衰竭相关的HNF1B基因新突变:病例报告及突变更新

Alvelos, Maria Inês; Rodrigues, Magda; Lobo, Luísa; Medeira, Ana; Sousa, Ana Berta; Simão, Carla; Lemos, Manuel Carlos

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

KIAA2022功能丧失会导致轻度至重度智力障碍,伴有自闭症谱系障碍,并损害神经突生长。

Van Maldergem, Lionel; Hou, Qingming; Kalscheuer, Vera M; Rio, Marlène; Doco-Fenzy, Martine; Medeira, Ana; de Brouwer, Arjan P M; Cabrol, Christelle; Haas, Stefan A; Cacciagli, Pierre; Moutton, Sébastien; Landais, Emilie; Motte, Jacques; Colleaux, Laurence; Bonnet, Céline; Villard, Laurent; Dupont, Juliette; Man, Heng-Ye

Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case

伴有新型基因突变和严重阻塞性睡眠呼吸暂停的骨硬化症:复杂病例的管理

Girbal, Inês; Nunes, Teresa; Medeira, Ana; Bandeira, Teresa

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

通过功能表征和临床证据确定患者来源的TSC2突变的致病性

Dunlop, Elaine A; Dodd, Kayleigh M; Land, Stephen C; Davies, Peter A; Martins, Nicole; Stuart, Helen; McKee, Shane; Kingswood, Chris; Saggar, Anand; Corderio, Isabel; Medeira, Ana Maria Duarte; Kingston, Helen; Sampson, Julian R; Davies, David Mark; Tee, Andrew R

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

队列研究中X连锁显性低磷性佝偻病的基因诊断:肾小管磷酸盐重吸收和1,25(OH)2D血清水平与PHEX突变类型相关

Morey, Marcos; Castro-Feijóo, Lidia; Barreiro, Jesús; Cabanas, Paloma; Pombo, Manuel; Gil, Marta; Bernabeu, Ignacio; Díaz-Grande, José M; Rey-Cordo, Lourdes; Ariceta, Gema; Rica, Itxaso; Nieto, José; Vilalta, Ramón; Martorell, Loreto; Vila-Cots, Jaime; Aleixandre, Fernando; Fontalba, Ana; Soriano-Guillén, Leandro; García-Sagredo, José M; García-Miñaur, Sixto; Rodríguez, Berta; Juaristi, Saioa; García-Pardos, Carmen; Martínez-Peinado, Antonio; Millán, José M; Medeira, Ana; Moldovan, Oana; Fernandez, Angeles; Loidi, Lourdes

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

人类层粘连蛋白β2 (LAMB2) 基因突变及其相关表型谱

Matejas, Verena; Hinkes, Bernward; Alkandari, Faisal; Al-Gazali, Lihadh; Annexstad, Ellen; Aytac, Mehmet B; Barrow, Margaret; Bláhová, Kveta; Bockenhauer, Detlef; Cheong, Hae Il; Maruniak-Chudek, Iwona; Cochat, Pierre; Dötsch, Jörg; Gajjar, Priya; Hennekam, Raoul C; Janssen, Françoise; Kagan, Mikhail; Kariminejad, Ariana; Kemper, Markus J; Koenig, Jens; Kogan, Jillene; Kroes, Hester Y; Kuwertz-Bröking, Eberhard; Lewanda, Amy F; Medeira, Ana; Muscheites, Jutta; Niaudet, Patrick; Pierson, Michel; Saggar, Anand; Seaver, Laurie; Suri, Mohnish; Tsygin, Alexey; Wühl, Elke; Zurowska, Aleksandra; Uebe, Steffen; Hildebrandt, Friedhelm; Antignac, Corinne; Zenker, Martin