Kaname T - Search Results

1

Artificial intelligence in medical genomics.

Kamatani Y, Kaname T. Kamatani Y, et al. Among authors: kaname t. J Hum Genet. 2024 Oct;69(10):475. doi: 10.1038/s10038-024-01282-1. Epub 2024 Aug 27. J Hum Genet. 2024. PMID: 39192016 No abstract available.

2

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Kaname T, Yanagi K. Kaname T, et al. J Hum Genet. 2017 Aug;62(8):739-740. doi: 10.1038/jhg.2017.58. Epub 2017 Jun 1. J Hum Genet. 2017. PMID: 28566769 Free PMC article. No abstract available.

3

A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

Kaname T. Kaname T. J Hum Genet. 2020 Jul;65(7):589-590. doi: 10.1038/s10038-020-0767-1. Epub 2020 May 11. J Hum Genet. 2020. PMID: 32393812 No abstract available.

4

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: kaname t. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044

5

A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Kaname T, Yanagi K, Naritomi K. Kaname T, et al. J Hum Genet. 2013 Feb;58(2):57. doi: 10.1038/jhg.2012.138. Epub 2012 Nov 29. J Hum Genet. 2013. PMID: 23190750 No abstract available.

6

A commentary on the promise of whole-exome sequencing in medical genetics.

Kaname T, Yanagi K, Naritomi K. Kaname T, et al. J Hum Genet. 2014 Mar;59(3):117-8. doi: 10.1038/jhg.2014.7. Epub 2014 Feb 6. J Hum Genet. 2014. PMID: 24500682 No abstract available.

7

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H. Hiraide T, et al. Among authors: kaname t. Hum Genet. 2018 Jan;137(1):95-104. doi: 10.1007/s00439-017-1863-y. Epub 2018 Jan 10. Hum Genet. 2018. PMID: 29322246

8

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: kaname t. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562

9

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: kaname t. J Hum Genet. 2019 Apr;64(4):313-322. doi: 10.1038/s10038-018-0559-z. Epub 2019 Jan 17. J Hum Genet. 2019. PMID: 30655572

10

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Yamamoto-Shimojima K, et al. Among authors: kaname t. J Hum Genet. 2019 Jul;64(7):665-671. doi: 10.1038/s10038-019-0600-x. Epub 2019 Apr 19. J Hum Genet. 2019. PMID: 31004103

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