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

Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia

眼裂小眼畸形中转录因子 MAZ、FOXP1 和 SIN3B 的基因内功能缺失变异

Seese, Sarah E; Reis, Linda M; Schneider, Adele; Bardakjian, Tanya; Semina, Elena V

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes

QSER1中的剪接和移码变异可能与发育表型有关。

Fischer, Megan C; Reis, Linda M; Lenberg, Jerica; Friedman, Jennifer; Seese, Sarah E; Muheisen, Sanaa; Writzl, Karin; Golob, Barbara; Peterlin, Borut; Semina, Elena V

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

PRX基因最后一个内含子异常剪接导致显性先天性白内障,但无神经系统表型

Reis, Linda M; Bellingham, James; Motta, Fabiana Louise; Jurkute, Neringa; Raskin, Salmo; Ramos, Fabiana; Mahroo, Omar A; Moosajee, Mariya; Arno, Gavin; Semina, Elena V

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

GJA8相关发育性眼病:一项新的多中心研究揭示了突变热点和基因型-表型相关性

Merepa, Solomon S; Reis, Linda M; Damián, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, María Jose; Ayuso, Carmen; Galarza, Laura Cortázar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancié, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V; Ragge, Nicola K

Displacement of distant regulatory elements of FOXC1 as a potential human disease mechanism

FOXC1远端调控元件的移位可能是人类疾病的潜在机制

Ferre-Fernández, Jesús-José; Reis, Linda M; Semina, Elena V

Examination of an iPSC model of human eye development reveals progressive emergence of critical embryonic cell types

对人类眼睛发育的iPSC模型的研究揭示了关键胚胎细胞类型的逐步出现

Replogle, Maria R; Ma, Xiaolong; Lin, Chien-Wei; Semina, Elena V

Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease

ZFHX4在人类眼部发育和疾病中可能发挥作用的进一步证据

Reis, Linda M; Zaidman, Gerald W; Thompson, Samuel; Muheisen, Sanaa; Glaser, Tom; Semina, Elena V

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

先天性前段眼病:基因型-表型相关性及新兴机制

Reis, Linda M; Seese, Sarah E; Costakos, Deborah; Semina, Elena V

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome

Axenfeld-Rieger综合征视网膜表型的体内评估

Untaroiu, Ana; Reis, Linda M; Higgins, Brian P; Walesa, Ashleigh; Zacharias, Serena; Nikezic, Danica; Costakos, Deborah M; Carroll, Joseph; Semina, Elena V

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

一种与复杂性小眼畸形相关的从头发生的非编码RARB变异改变了一个假定的调控元件。

Replogle, Maria R; Thompson, Samuel; Reis, Linda M; Semina, Elena V