Pairet相关文献与解析，生知库 | 链接生命科学的每一步

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

剪接体复合体基因 SNRNP200、SF3B1、SF3B2 和 SF3B4 中可能致病/致病性变异与非综合征性口面裂有关

Ranji, Peyman; Pairet, Eleonore; Helaers, Raphael; Brouillard, Pascal; Bayet, Bénédicte; Gerdom, Alexander; Revencu, Nicole; Vikkula, Miikka

SF3B1

SF3B2

发表日期：2025

文献求助收藏

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum

对患有唇腭裂和小眼畸形-无眼畸形-眼裂缺损谱系疾病的个体进行分子检测

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-023-01488-5

Atique Tacla, Milena; de Mello Copelli, Matheus; Pairet, Eleonore; Monlleó, Isabella Lopes; Ribeiro, Erlane Marques; Lustosa Mendes, Elaine; Helaers, Raphaël; Vieira, Tarsis Paiva; Vikkula, Miikka; Gil-da-Silva-Lopes, Vera Lúcia

发表日期：2024

文献求助收藏

The Role of c-MET as a Biomarker in Patients with Bladder Cancer Treated with Radical Chemo-Radiotherapy

c-MET作为生物标志物在接受根治性放化疗的膀胱癌患者中的作用

期刊:Current Oncology

影响因子:3.4

doi:10.3390/curroncol30120770

Houssiau, Hélène; Pairet, Géraldine; Dano, Hélène; Seront, Emmanuel

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

成人期由 c.715C>T:p(Arg239*) 变异引起的 SATB2 相关综合征：自然史和文献综述

期刊:Genes

影响因子:2.8

doi:10.3390/genes14040882

Copelli, Matheus de Mello; Pairet, Eleonore; Atique-Tacla, Milena; Vieira, Társis Paiva; Appenzeller, Simone; Helaers, Raphaël; Vikkula, Miikka; Gil-da-Silva-Lopes, Vera Lúcia

发表日期：2023

文献求助收藏

Perceptions of the Fatigue Experience and a Breathing Awareness Meditation-Integrated mHealth App for Fatigue and Stress in Patients with Sarcoidosis

结节病患者疲劳体验感知及呼吸觉知冥想整合型移动健康应用程序在缓解疲劳和压力方面的应用

期刊:Fatigue-Biomedicine Health and Behavior

影响因子:2.2

doi:10.1080/21641846.2022.2154499

Christon, Lillian M; Chandler, Jessica; Benfield, Katie; Pairet, Samantha; Hoffman, Maria; Treiber, Frank; James, W Ennis

发表日期：2023

文献求助收藏

Design and rationale of a pilot randomized clinical trial investigating the use of a mHealth app for sarcoidosis-associated fatigue

一项旨在研究使用移动健康应用程序治疗结节病相关疲劳的随机临床试验的设计和原理

期刊:Contemporary Clinical Trials Communications

影响因子:1.4

doi:10.1016/j.conctc.2023.101062

Chandler, Jessica; Christon, Lillian M; Benfield, Katie; Pairet, Samantha; Hoffman, Maria; Treiber, Frank; Mueller, Martina; James, W Ennis

发表日期：2023

文献求助收藏

Online 3-Dimensional Path Planning with Kinematic Constraints in Unknown Environments Using Hybrid A* with Tree Pruning

基于混合A*算法和树剪枝的未知环境下带运动学约束的在线三维路径规划

期刊:Sensors

影响因子:3.5

doi:10.3390/s21041152

Scharff Willners, Jonatan; Gonzalez-Adell, Daniel; Hernández, Juan David; Pairet, Èric; Petillot, Yvan

发表日期：2021

文献求助收藏

Isolated peritoneal carcinomatosis in prostate cancer: from a successful hormonal management to a review of the literature

前列腺癌孤立性腹膜癌：从成功的激素治疗到文献综述

期刊:Future Science OA

影响因子:2.1

doi:10.2144/fsoa-2021-0009

Delchambre, Emilie; Rysselinck, Stéphane; Pairet, Géraldine; Confente, Caterina; Seront, Emmanuel

Differential modulation of transendothelial electrical resistance by TRPV4 agonists is mediated by apoptosis and/or necrosis

TRPV4 激动剂对跨内皮电阻的差异调节是由细胞凋亡和/或坏死介导的

期刊:Biochemistry and Biophysics Reports

影响因子:2.3

doi:10.1016/j.bbrep.2019.100672

N Pairet, S Mang, T Kiechle, N Laufhäger, P Dietl, D J Lamb

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

在非综合征性口面裂（NsOFC）患者中发现了四种假定的致病性 ARHGAP29 变异

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft

剪接体复合体基因 SNRNP200、SF3B1、SF3B2 和 SF3B4 中可能致病/致病性变异与非综合征性口面裂有关

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum

对患有唇腭裂和小眼畸形-无眼畸形-眼裂缺损谱系疾病的个体进行分子检测

The Role of c-MET as a Biomarker in Patients with Bladder Cancer Treated with Radical Chemo-Radiotherapy

c-MET作为生物标志物在接受根治性放化疗的膀胱癌患者中的作用

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

成人期由 c.715C>T:p(Arg239*) 变异引起的 SATB2 相关综合征：自然史和文献综述

Perceptions of the Fatigue Experience and a Breathing Awareness Meditation-Integrated mHealth App for Fatigue and Stress in Patients with Sarcoidosis

结节病患者疲劳体验感知及呼吸觉知冥想整合型移动健康应用程序在缓解疲劳和压力方面的应用

Design and rationale of a pilot randomized clinical trial investigating the use of a mHealth app for sarcoidosis-associated fatigue

一项旨在研究使用移动健康应用程序治疗结节病相关疲劳的随机临床试验的设计和原理

Online 3-Dimensional Path Planning with Kinematic Constraints in Unknown Environments Using Hybrid A* with Tree Pruning

基于混合A*算法和树剪枝的未知环境下带运动学约束的在线三维路径规划

Isolated peritoneal carcinomatosis in prostate cancer: from a successful hormonal management to a review of the literature

前列腺癌孤立性腹膜癌：从成功的激素治疗到文献综述

Differential modulation of transendothelial electrical resistance by TRPV4 agonists is mediated by apoptosis and/or necrosis

TRPV4 激动剂对跨内皮电阻的差异调节是由细胞凋亡和/或坏死介导的