文献库，生知库 | 链接生命科学的每一步

日期影响因子

Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.

年轻发病散发性垂体大腺瘤的种系遗传变异：多基因面板分析

期刊:Journal of Clinical and Translational Endocrinology

影响因子:3.3

doi:10.1016/j.jcte.2025.100389

Gaspar Leonor M, GonÃ§alves Catarina I, Nobre Ema L, Fonseca Fernando, Amaral ClÃ¡udia, Duarte JoÃ£o S, Raimundo LuÃsa, Saraiva Catarina, Cortez LuÃsa, Marques Olinda, Lemos Manuel C

发表日期：2025

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Predicted mechanistic impacts of human protein missense variants

人类蛋白质错义变异的预测机制影响

doi:10.1101/2024.05.29.596373

Jänes, Jürgen; Müller, Marc; Selvaraj, Senthil; Manoel, Diogo; Stephenson, James; Gonçalves, Catarina; Lafita, Aleix; Polacco, Benjamin; Obernier, Kirsten; Alasoo, Kaur; Lemos, Manuel C; Krogan, Nevan; Martin, Maria; Saraiva, Luis R; Burke, David; Beltrao, Pedro

发表日期：2024

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Promoting advanced medical services in the framework of 3PM-a proof-of-concept by the "Centro" Region of Portugal

葡萄牙中部地区在3PM框架下推广先进医疗服务——概念验证

doi:10.1007/s13167-024-00353-9

Regateiro, Fernando J; Silva, Henriqueta; Lemos, Manuel C; Moura, Gabriela; Torres, Pedro; Pereira, André Dias; Dias, Luís; Ferreira, Pedro L; Amaral, Sara; Santos, Manuel A S

发表日期：2024

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Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study

孕期母体尿碘浓度及其对儿童生长发育和神经发育的影响：一项为期11年的随访研究

期刊:Nutrients

doi:10.3390/nu15204447

Lopes, Carla A; Duarte, Marta; Prazeres, Susana; Carvalho, Ivone; Vilarinho, Laura; Martinez-de-Oliveira, José; Limbert, Edward; Lemos, Manuel C

发育与干细胞

发表日期：2023

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Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

由 GATA3 剪接位点突变引起的甲状旁腺功能减退、耳聋和肾发育不良综合征，该突变导致隐蔽剪接位点的激活。

期刊:Frontiers in Endocrinology

影响因子:4.6

doi:10.3389/fendo.2023.1207425

Gonçalves, Catarina I; Carriço, Josianne N; Omar, Omneya M; Abdalla, Ebtesam; Lemos, Manuel C

发育与干细胞

发表日期：2023

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Iodine Supplementation in Pregnancy in an Iodine-Deficient Region: A Cross-Sectional Survey

碘缺乏地区孕期碘补充情况：一项横断面调查

期刊:Nutrients

doi:10.3390/nu14071393

Lopes, Carla A; Prazeres, Susana; Martinez-de-Oliveira, José; Limbert, Edward; Lemos, Manuel C

发表日期：2022

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A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study.

CDK8 基因的常见变异与葡萄牙人群中散发性垂体腺瘤相关：一项病例对照研究

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms231911749

Gaspar Leonor M, GonÃ§alves Catarina I, Fonseca Fernando, Carvalho Davide, Cortez LuÃsa, Palha Ana, Barros InÃªs F, Nobre Ema, Duarte JoÃ£o S, Amaral ClÃ¡udia, Bugalho Maria J, Marques Olinda, Pereira Bernardo D, Lemos Manuel C

发表日期：2022

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The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder

糖皮质激素受体基因（NR3C1）9β SNP与创伤后应激障碍相关

期刊:Healthcare

影响因子:2.7

doi:10.3390/healthcare9020173

Castro-Vale, Ivone; Durães, Cecília; van Rossum, Elisabeth F C; Staufenbiel, Sabine M; Severo, Milton; Lemos, Manuel C; Carvalho, Davide

创伤后应激障碍

免疫/内分泌

发表日期：2021

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Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

葡萄牙的青年起病型糖尿病（MODY）：新的GCK、HNFA1和HNFA4突变

期刊:Journal of Clinical Medicine

影响因子:2.9

doi:10.3390/jcm9010288

Alvelos, Maria I; Gonçalves, Catarina I; Coutinho, Eduarda; Almeida, Joana T; Bastos, Margarida; Sampaio, Maria L; Melo, Miguel; Martins, Sofia; Dinis, Isabel; Mirante, Alice; Gomes, Leonor; Saraiva, Joana; Pereira, Bernardo D; Gama-de-Sousa, Susana; Moreno, Carolina; Guelho, Daniela; Martins, Diana; Baptista, Carla; Barros, Luísa; Ventura, Mara; Gomes, Maria M; Lemos, Manuel C

发表日期：2020

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UV-B Filter Octylmethoxycinnamate Induces Vasorelaxation by Ca(2+) Channel Inhibition and Guanylyl Cyclase Activation in Human Umbilical Arteries

UV-B 滤光剂甲氧基肉桂酸辛酯通过抑制 Ca(2+) 通道和激活鸟苷酸环化酶诱导人脐动脉血管舒张

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms20061376

Lorigo, Margarida; Quintaneiro, Carla; Lemos, Manuel C; Martinez-de-Oliveira, José; Breitenfeld, Luiza; Cairrao, Elisa

发表日期：2019

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