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

Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian Women

评估液体活检检测循环肿瘤DNA(ctDNA)作为厄瓜多尔女性甲状腺癌辅助诊断工具的价值

Cadena-Ullauri, Santiago; Ruiz-Pozo, Viviana A; Paz-Cruz, Elius; Tamayo-Trujillo, Rafael; Guevara-Ramírez, Patricia; Jaramillo-Calvas, Oscar; García, Cristhian; García, Mikaela; Pérez, Ana; Ochoa-Castro, Maritza; Zaruma-Torres, Fausto; Bayas-Morejón, Favian; Guamán-Herrera, Lenín; Zambrano, Ana Karina

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

通过对驱动复杂性小眼畸形的调控变异的研究,深入了解 FOXE3 转录网络和疾病机制

Plaisancié Julie, Angée Clémentine, Erjavec Elisa, Raymond-Letron Isabelle, Douet Jean-Yves, Goetz Mathilde, Vincent-Delorme Catherine, Karemaker Ino D, Baltissen Marijke, Vermeulen Michiel, Valdivia Leonardo, Jabot-Hanin Fabienne, David Pierre, Hadjadj Djihad, Monsef Yanad Abou, Lyazrhi Faouzi, Calvas Patrick, Rozet Jean-Michel, Chassaing Nicolas, Fares-Taie Lucas

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

MAB21L2 上游的缺失凸显了进化保守的非编码序列对眼睛发育的重要性

Fabiola Ceroni #, Munevver B Cicekdal #, Richard Holt #, Elena Sorokina #, Nicolas Chassaing, Samuel Clokie, Thomas Naert, Lidiya V Talbot, Sanaa Muheisen, Dorine A Bax, Yesim Kesim, Emma C Kivuva, Catherine Vincent-Delorme, Soeren S Lienkamp, Julie Plaisancié, Elfride De Baere, Patrick Calvas, Kris

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

小鼠先天性小角膜缺失将 Sox21 失调与疾病联系起来,并表明 TGFB2 在青光眼和近视中发挥作用

Erjavec Elisa, Angée Clémentine, Hadjadj Djihad, Passet Bruno, David Pierre, Kostic Corinne, Dodé Emmanuel, Zanlonghi Xavier, Cagnard Nicolas, Nedelec Brigitte, Crippa Sylvain V, Bole-Feysot Christine, Zarhrate Mohammed, Creuzet Sophie, Castille Johan, Vilotte Jean-Luc, Calvas Patrick, Plaisancié Julie, Chassaing Nicolas, Kaplan Josseline, Rozet Jean-Michel, Fares Taie L

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

临床和基因分析进一步阐明了ALDH1A3相关性无眼症和小眼症的表型谱。

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

评估先天性眼部畸形中的体细胞和/或生殖细胞嵌合现象

Chesneau, Bertrand; Ivashchenko, Véronique; Habib, Christophe; Gaston, Véronique; Escudié, Fréderic; Morel, Godelieve; Capri, Yline; Vincent-Delorme, Catherine; Calvas, Patrick; Chassaing, Nicolas; Plaisancié, Julie

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

更正:临床和基因分析进一步阐明了ALDH1A3相关性无眼症和小眼症的表型谱

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

更正:评估先天性眼部畸形中的体细胞和/或生殖细胞嵌合现象

Chesneau, Bertrand; Ivashchenko, Véronique; Habib, Christophe; Gaston, Véronique; Escudié, Fréderic; Morel, Godelieve; Capri, Yline; Vincent-Delorme, Catherine; Calvas, Patrick; Chassaing, Nicolas; Plaisancié, Julie

Immunohistochemical subtype and its relationship with 5-year overall survival in breast cancer patients

免疫组织化学亚型及其与乳腺癌患者5年总生存率的关系

Aldaz-Roldán, Pablo; Pardo-Vásquez, Diego F; Chamba-Morales, Geanella N; Aguirre-Reyes, Daniel F; Castillo-Calvas, Johana M; Noblecilla-Arévalo, Gabriela