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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: uchiyama y. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N. Aoi H, et al. Among authors: uchiyama y. J Hum Genet. 2021 May;66(5):499-507. doi: 10.1038/s10038-020-00869-8. Epub 2020 Nov 3. J Hum Genet. 2021. PMID: 33144663
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y. Yamada H, et al. Among authors: uchiyama y. Brain Dev. 2022 Jan;44(1):68-72. doi: 10.1016/j.braindev.2021.07.007. Epub 2021 Jul 29. Brain Dev. 2022. PMID: 34332824
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K, Miyoshi K, Sun JH, Hamada K, Komatsubara T, Saida K, Tsuchida N, Uchiyama Y, Fujita A, Mizuguchi T, Gerard B, Bayat A, Rinaldi B, Kato M, Tohyama J, Ogata K, Shi YS, Saito K, Miyatake S, Matsumoto N. Hamanaka K, et al. Among authors: uchiyama y. Hum Genet. 2022 Feb;141(2):283-293. doi: 10.1007/s00439-021-02416-7. Epub 2022 Jan 15. Hum Genet. 2022. PMID: 35031858
Distal 2q duplication in a patient with intellectual disability.
Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: uchiyama y. Hum Genome Var. 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8. Hum Genome Var. 2022. PMID: 36357380 Free PMC article.
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Inoue Y, Tsuchida N, Okamoto N, Shuichi S, Ohashi K, Saitoh S, Ogawa A, Hamada K, Sakamoto M, Miyake N, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Uchiyama Y, Matsumoto N. Inoue Y, et al. Among authors: uchiyama y. Clin Genet. 2023 May;103(5):590-595. doi: 10.1111/cge.14292. Epub 2023 Jan 7. Clin Genet. 2023. PMID: 36576140
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa E, et al. Among authors: uchiyama y. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296. Epub 2023 Jan 25. Clin Genet. 2023. PMID: 36645289 Review.
1,188 results