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

A biometric survey of known and prospective murine models of posterior microphthalmia-nanophthalmia

对已知和潜在的后部小眼球-小眼球小鼠模型进行生物特征调查

Gogna, Navdeep; Pinkney, Jai; Stone, Lisa; Khorzom, Mhd Mustafa; Zhao, Fuxin; Collin, Gayle B; Naggert, Juergen K; Krebs, Mark P; Nishina, Patsy M

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models

色素供应调节视网膜色素变性小鼠模型中的视锥细胞功能和存活率

Xue, Yunlu; Sun, Xiaomei; Wang, Sean K; Collin, Gayle B; Kefalov, Vladimir J; Cepko, Constance L

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

Mfrp和Adipor1突变之间的遗传相互作用影响视网膜疾病表型

Gogna, Navdeep; Weatherly, Sonia; Zhao, Fuxin; Collin, Gayle B; Pinkney, Jai; Stone, Lisa; Naggert, Jürgen K; Carter, Gregory W; Nishina, Patsy M

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

光感受器细胞丢失的遗传性视网膜变性小鼠模型

Collin, Gayle B; Gogna, Navdeep; Chang, Bo; Damkham, Nattaya; Pinkney, Jai; Hyde, Lillian F; Stone, Lisa; Naggert, Jürgen K; Nishina, Patsy M; Krebs, Mark P

Spectral-domain optical coherence tomography findings in Alström syndrome

阿尔斯特罗姆综合征的光谱域光学相干断层扫描结果

Dotan, Gad; Khetan, Vikas; Marshall, Jan D; Affel, Elizabeth; Armiger-George, Denise; Naggert, Jürgen K; Collin, Gayle B; Levin, Alex V

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

NMNAT1-Leber先天性黑蒙症(LCA9)的小鼠模型重现了人类疾病的关键特征

Greenwald, Scott H; Charette, Jeremy R; Staniszewska, Magdalena; Shi, Lan Ying; Brown, Steve D M; Stone, Lisa; Liu, Qin; Hicks, Wanda L; Collin, Gayle B; Bowl, Michael R; Krebs, Mark P; Nishina, Patsy M; Pierce, Eric A

Pituitary morphovolumetric changes in Alström syndrome

Alström综合征中垂体形态体积的变化

Citton, Valentina; Maffei, Pietro; Marshall, Jan D; Baglione, Alessandro; Collin, Gayle B; Milan, Gabriella; Vettor, Roberto; Naggert, Jürgen K; Manara, Renzo

Alström Syndrome: Mutation Spectrum of ALMS1

阿尔斯特罗姆综合征:ALMS1 的突变谱

Marshall, Jan D; Muller, Jean; Collin, Gayle B; Milan, Gabriella; Kingsmore, Stephen F; Dinwiddie, Darrell; Farrow, Emily G; Miller, Neil A; Favaretto, Francesca; Maffei, Pietro; Dollfus, Hélène; Vettor, Roberto; Naggert, Jürgen K

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

小鼠 Adamtsl4 基因的破坏会导致晶状体悬韧带脱离晶状体,并导致视网膜色素上皮去分化

Collin Gayle B, Hubmacher Dirk, Charette Jeremy R, Hicks Wanda L, Stone Lisa, Yu Minzhong, Naggert Jürgen K, Krebs Mark P, Peachey Neal S, Apte Suneel S, Nishina Patsy M

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

土耳其44个Alström综合征家系的表型和分子遗传谱及土耳其Alström综合征文献综述

Ozantürk, Ayşegül; Marshall, Jan D; Collin, Gayle B; Düzenli, Selma; Marshall, Robert P; Candan, Şükrü; Tos, Tülay; Esen, İhsan; Taşkesen, Mustafa; Çayır, Atilla; Öztürk, Şükrü; Üstün, İhsan; Ataman, Esra; Karaca, Emin; Özdemir, Taha Reşid; Erol, İlknur; Eroğlu, Fehime Kara; Torun, Deniz; Parıltay, Erhan; Yılmaz-Güleç, Elif; Karaca, Ender; Atabek, M Emre; Elçioğlu, Nursel; Satman, İlhan; Möller, Claes; Muller, Jean; Naggert, Jürgen K; Özgül, Rıza Köksal