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

672 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: iida a. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S. Wang Z, et al. Among authors: iida a. J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26. J Hum Genet. 2017. PMID: 28123176
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L. Xue JY, et al. Among authors: iida a. J Bone Miner Res. 2022 Feb;37(2):226-235. doi: 10.1002/jbmr.4462. Epub 2021 Nov 11. J Bone Miner Res. 2022. PMID: 34668226 Free article.
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Guo L, et al. Among authors: iida a. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 Free PMC article.
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S. Iida A, et al. J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25. Epub 2013 Apr 4. J Hum Genet. 2013. PMID: 23552673
672 results