Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

162 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Neelathi UM, et al. Among authors: maumenee ih. medRxiv [Preprint]. 2024 Nov 11:2024.11.09.24316578. doi: 10.1101/2024.11.09.24316578. medRxiv. 2024. PMID: 39606382 Free PMC article. Preprint.
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Neelathi UM, et al. Among authors: maumenee ih. Res Sq [Preprint]. 2024 Nov 15:rs.3.rs-5375105. doi: 10.21203/rs.3.rs-5375105/v1. Res Sq. 2024. PMID: 39606449 Free PMC article. Preprint.
Venous Tortuosity in COL4A2-Associated Gould Syndrome.
Oh JK, Levi SR, de Carvalho JRL Jr, Abdelhakim AH, Hirano M, Maumenee IH, Tsang SH. Oh JK, et al. Among authors: maumenee ih. Ophthalmic Surg Lasers Imaging Retina. 2023 Sep;54(9):536-539. doi: 10.3928/23258160-20230811-01. Epub 2023 Aug 1. Ophthalmic Surg Lasers Imaging Retina. 2023. PMID: 37642429
Publisher Correction: Marfan syndrome.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Milewicz DM, et al. Among authors: maumenee ih. Nat Rev Dis Primers. 2022 Jan 17;8(1):3. doi: 10.1038/s41572-022-00338-w. Nat Rev Dis Primers. 2022. PMID: 35039531 No abstract available.
Marfan syndrome.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Milewicz DM, et al. Among authors: maumenee ih. Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. Nat Rev Dis Primers. 2021. PMID: 34475413 Free PMC article. Review.
162 results