Matsumoto N - Search Results

1

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: matsumoto n. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296. Epub 2023 Jan 25. Clin Genet. 2023. PMID: 36645289 Review.

2

Coffin-Siris syndrome is a SWI/SNF complex disorder.

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: matsumoto n. Clin Genet. 2014 Jun;85(6):548-54. doi: 10.1111/cge.12225. Epub 2013 Jul 23. Clin Genet. 2014. PMID: 23815551

3

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N. Imagawa E, et al. Among authors: matsumoto n. Hum Genet. 2014 Feb;133(2):225-34. doi: 10.1007/s00439-013-1372-6. Epub 2013 Oct 8. Hum Genet. 2014. PMID: 24100632

4

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N. Imagawa E, et al. Among authors: matsumoto n. Am J Med Genet A. 2014 Sep;164A(9):2398-402. doi: 10.1002/ajmg.a.36648. Epub 2014 Jun 16. Am J Med Genet A. 2014. PMID: 24934387

5

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Miyatake S, et al. Among authors: matsumoto n. J Hum Genet. 2015 Apr;60(4):175-82. doi: 10.1038/jhg.2014.124. Epub 2015 Jan 22. J Hum Genet. 2015. PMID: 25608832

6

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Kohrogi K, Imagawa E, Muto Y, Hirai K, Migita M, Mitsubuchi H, Miyake N, Matsumoto N, Nakamura K, Endo F. Kohrogi K, et al. Among authors: matsumoto n. J Hum Genet. 2015 Jul;60(7):381-5. doi: 10.1038/jhg.2015.35. Epub 2015 Apr 16. J Hum Genet. 2015. PMID: 25876998

7

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N. Imagawa E, et al. Among authors: matsumoto n. J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):212-6. doi: 10.1136/jnnp-2014-310084. Epub 2015 May 20. J Neurol Neurosurg Psychiatry. 2016. PMID: 25995486

8

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.

Behnam M, Imagawa E, Chaleshtori AR, Ronasian F, Salehi M, Miyake N, Matsumoto N. Behnam M, et al. Among authors: matsumoto n. J Hum Genet. 2016 Feb;61(2):177-9. doi: 10.1038/jhg.2015.127. Epub 2015 Oct 22. J Hum Genet. 2016. PMID: 26490182

9

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.

Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N. Uchiyama Y, et al. Among authors: matsumoto n. Sci Rep. 2016 Mar 9;6:22985. doi: 10.1038/srep22985. Sci Rep. 2016. PMID: 26957145 Free PMC article.

10

[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].

Imagawa E, Miyake N, Matsumoto N. Imagawa E, et al. Among authors: matsumoto n. Clin Calcium. 2016 Apr;26(4):515-23. Clin Calcium. 2016. PMID: 27013621 Review. Japanese.

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