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

Variants in NR6A1 cause a novel oculo vertebral renal syndrome

NR6A1基因变异导致一种新型眼椎肾综合征

Neelathi, Uma M; Ullah, Ehsan; George, Aman; Maftei, Mara I; Boobalan, Elangovan; Sanchez-Mendoza, Daniel; Adams, Chloe; McGaughey, David; Sergeev, Yuri V; Ai Rawi, Ranya; Naik, Amelia; Bender, Chelsea; Maumenee, Irene H; Michaelides, Michel; Tan, Tun Giap; Lin, Siying; Villasmil, Rafael; Blain, Delphine; Hufnagel, Robert B; Arno, Gavin; Young, Rodrigo M; Guan, Bin; Brooks, Brian P

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation

一名8岁女孩患有X连锁STAG2基因突变,表现为全视网膜先天性RPE肥大

Kong, Maximilian D; Sylla, Mohamed M; Oh, Jin Kyun; Dedania, Vaidehi S; Soucy, Megan; Demirkol, Aykut; Brodie, Scott E; Maumenee, Irene H; Tsang, Stephen H

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

十种最常见CRB1突变的临床和治疗评估

Lopes da Costa, Bruna; Kolesnikova, Masha; Levi, Sarah R; Cabral, Thiago; Tsang, Stephen H; Maumenee, Irene H; Quinn, Peter M J

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

一种新型致病性CRB1变异体表现为Leber先天性黑蒙8型,并评估基因编辑可行性

Sylla, Mohamed M; Kolesinkova, Masha; da Costa, Bruna Lopes; Maumenee, Irene H; Tsang, Stephen H; Quinn, Peter M J

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

两种新型COQ2变异体的复合杂合遗传导致家族性辅酶Q缺乏症。

Aliaa H Abdelhakim ,Avinash V Dharmadhikari ,Sara D Ragi ,Jose Ronaldo Lima de Carvalho Jr ,Christine L Xu ,Amanda L Thomas ,Christie M Buchovecky ,Mahesh M Mansukhani ,Ali B Naini ,Jun Liao ,Vaidehi Jobanputra ,Irene H Maumenee ,Stephen H Tsang

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

PROM1基因中复合杂合的新型移码变异导致莱伯先天性黑蒙症。

Ragi, Sara D; Lima de Carvalho, Jose Ronaldo Jr; Tanaka, Akemi J; Park, Karen Sophia; Mahajan, Vinit B; Maumenee, Irene H; Tsang, Stephen H

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

SLIT2基因错义突变与先天性近视、屈光参差、结缔组织异常和肥胖相关

Liu, Katherine Y; Sengillo, Jesse D; Velez, Gabriel; Jauregui, Ruben; Sakai, Lynn Y; Maumenee, Irene H; Bassuk, Alexander G; Mahajan, Vinit B; Tsang, Stephen H

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature

Wolf-Hirschhorn综合征合并先天性视盘空洞性异常和Axenfeld异常:病例报告及文献复习

Ali, Mohsin H; Azar, Nathalie F; Aakalu, Vinay; Chau, Felix Y; Abbasian, Javaneh; Setabutr, Pete; Maumenee, Irene H

Biometry Characteristics in Adults and Children With Marfan Syndrome: From the Marfan Eye Consortium of Chicago

芝加哥马凡氏综合征成人和儿童的生物测量特征:来自芝加哥马凡氏眼科联盟

Kinori, Michael; Wehrli, Sarah; Kassem, Iris S; Azar, Nathalie F; Maumenee, Irene H; Mets, Marilyn B

CRIM1 haploinsufficiency causes defects in eye development in human and mouse

CRIM1单倍体不足会导致人类和小鼠的眼睛发育缺陷

Beleggia, Filippo; Li, Yun; Fan, Jieqing; Elcioğlu, Nursel H; Toker, Ebru; Wieland, Thomas; Maumenee, Irene H; Akarsu, Nurten A; Meitinger, Thomas; Strom, Tim M; Lang, Richard; Wollnik, Bernd