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

1,242 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: naik a. 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: naik a. 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.
The qMini assay identifies an overlooked class of splice variants.
Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, Li H, Goetz K, Blain D, Agather A, Cukras C, Zein WM, Huryn LA, Brooks BP, Hufnagel RB. Guan B, et al. Among authors: naik a. medRxiv [Preprint]. 2023 Nov 3:2023.11.02.23297963. doi: 10.1101/2023.11.02.23297963. medRxiv. 2023. PMID: 38076877 Free PMC article. Preprint.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: naik a. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. Update in: Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055 PMID: 37333224 Free PMC article. Updated. Preprint.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: naik a. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
Aguilera N, Liu T, Bower AJ, Li J, Abouassali S, Lu R, Giannini J, Pfau M, Bender C, Smelkinson MG, Naik A, Guan B, Schwartz O, Volkov A, Dubra A, Liu Z, Hammer DX, Maric D, Fariss R, Hufnagel RB, Jeffrey BG, Brooks BP, Zein WM, Huryn LA, Tam J. Aguilera N, et al. Among authors: naik a. Commun Biol. 2022 Sep 13;5(1):893. doi: 10.1038/s42003-022-03842-7. Commun Biol. 2022. PMID: 36100689 Free PMC article.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: naik a. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241 Free PMC article.
A Pilot Open-Label Randomized Study to Evaluate the Safety, Tolerability, and Acceptability of the IntegriMedical® Needle Free Injection System versus a Conventional Needle-Based System in Healthy Volunteers, Using Normal Saline as a Placebo.
Pathan A, Shetty Narasimha K, Naik A, Ranade A. Pathan A, et al. Among authors: naik a. Med Devices (Auckl). 2024 Dec 27;17:525-536. doi: 10.2147/MDER.S491883. eCollection 2024. Med Devices (Auckl). 2024. PMID: 39742081 Free PMC article.
1,242 results