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

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

光学基因组图谱揭示神经发育障碍中隐藏的结构变异

Schrauwen, Isabelle; Rajendran, Yasmin; Acharya, Anushree; Öhman, Susanna; Arvio, Maria; Paetau, Ritva; Siren, Auli; Avela, Kristiina; Granvik, Johanna; Leal, Suzanne M; Määttä, Tuomo; Kokkonen, Hannaleena; Järvelä, Irma

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

一名患有严重残疾和双侧侧裂周围多小脑回畸形的女孩体内发现CYFIP2基因的新变异

Salokivi, Tommi; Parkkola, Riitta; Rajendran, Yasmin; Bharadwaj, Thashi; Acharya, Anushree; Leal, Suzanne M; Järvelä, Irma; Arvio, Maria; Schrauwen, Isabelle

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

一名患有 ARX 基因突变 c.558_560dup p.(Pro187dup) 的成年患者表现出智力障碍、肌张力障碍和帕金森病

Arvio, Maria; Lähdetie, Jaana; Koivu, Hannu; Sohlberg, Antti; Pekkonen, Eero

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

芬兰创始人群体中智力障碍(ID)疾病的外显子组测序结果显示,这些疾病主要由新生突变引起。

Järvelä, Irma; Määttä, Tuomo; Acharya, Anushree; Leppälä, Juha; Jhangiani, Shalini N; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomäki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kälviäinen, Reetta; Olme, Jan; Nouel-Saied, Liz M; Cornejo-Sanchez, Diana M; Llaci, Lorida; Lupski, James R; Posey, Jennifer E; Leal, Suzanne M; Schrauwen, Isabelle

Heterozygous loss of function of IQSEC2/ Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

IQSEC2/Iqsec2 杂合功能丧失导致女性 Arf6 活性增加和严重的神经认知癫痫表型

Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica Hn Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge

Cognition in adults with Williams syndrome-A 20-year follow-up study

威廉姆斯综合征成年患者的认知能力——一项为期20年的随访研究

Sauna-Aho, Oili; Bjelogrlic-Laakso, Nina; Sirén, Auli; Kangasmäki, Virpi; Arvio, Maria

Aspartylglycosaminuria: a review

天冬氨酰糖胺尿症:综述

Arvio, Maria; Mononen, Ilkka

Mortality in individuals with intellectual disabilities in Finland

芬兰智力障碍人士死亡率

Arvio, Maria; Salokivi, Tommi; Tiitinen, Aila; Haataja, Leena

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

芬兰智力障碍家庭的X染色体外显子组测序——发现四个新的突变和两种新的综合征表型

Philips, Anju K; Sirén, Auli; Avela, Kristiina; Somer, Mirja; Peippo, Maarit; Ahvenainen, Minna; Doagu, Fatma; Arvio, Maria; Kääriäinen, Helena; Van Esch, Hilde; Froyen, Guy; Haas, Stefan A; Hu, Hao; Kalscheuer, Vera M; Järvelä, Irma

Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis

天冬氨酰葡萄糖胺尿症基因突变携带者和慢性关节炎

Arvio, M; Laiho, K; Kauppi, M; Peippo, M; Leino, P; Kautiainen, H; Kaipiainen-Seppänen, O; Mononen, I