Kurosawa K - Search Results

1

Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

Kimura Y, Akahira-Azuma M, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K. Kimura Y, et al. Among authors: kurosawa k. Congenit Anom (Kyoto). 2018 Nov;58(6):188-190. doi: 10.1111/cga.12273. Epub 2018 Feb 13. Congenit Anom (Kyoto). 2018. PMID: 29381230 Review.

2

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.

Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. Miyake N, et al. Among authors: kurosawa k. Clin Genet. 2011 Sep;80(3):293-6. doi: 10.1111/j.1399-0004.2011.01644.x. Clin Genet. 2011. PMID: 21815884 No abstract available.

3

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Saitsu H, et al. Among authors: kurosawa k. Am J Med Genet A. 2012 Jan;158A(1):199-205. doi: 10.1002/ajmg.a.34363. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106086

4

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

Kurosawa K, Enomoto K, Tominaga M, Furuya N, Sameshima K, Iai M, Take H, Shinkai M, Ishikawa H, Yamanaka M, Matsui K, Masuno M. Kurosawa K, et al. Congenit Anom (Kyoto). 2012 Jun;52(2):78-81. doi: 10.1111/j.1741-4520.2012.00357.x. Congenit Anom (Kyoto). 2012. PMID: 22639992

5

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).

Kurosawa K, Tanoshima-Takei M, Yamamoto T, Ishikawa H, Masuno M, Tanaka Y, Yamanaka M. Kurosawa K, et al. Congenit Anom (Kyoto). 2012 Jun;52(2):106-10. doi: 10.1111/j.1741-4520.2011.00326.x. Congenit Anom (Kyoto). 2012. PMID: 22639997

6

Familial severe congenital diaphragmatic hernia: left herniation in one sibling and bilateral herniation in another.

Nagase H, Ishikawa H, Kurosawa K, Furuya N, Itani Y, Yamanaka M. Nagase H, et al. Among authors: kurosawa k. Congenit Anom (Kyoto). 2013 Mar;53(1):54-7. doi: 10.1111/j.1741-4520.2012.00363.x. Congenit Anom (Kyoto). 2013. PMID: 23480359

7

De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.

Kuroda Y, Ohashi I, Tominaga M, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: kurosawa k. Am J Med Genet A. 2014 Jun;164A(6):1550-4. doi: 10.1002/ajmg.a.36477. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668897

8

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Iai M, Kurosawa K. Kuroda Y, et al. Among authors: kurosawa k. Am J Med Genet A. 2014 Aug;164A(8):2104-8. doi: 10.1002/ajmg.a.36604. Epub 2014 May 6. Am J Med Genet A. 2014. PMID: 24801133

9

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K. Kuroda Y, et al. Among authors: kurosawa k. Am J Med Genet A. 2015 Feb;167A(2):389-93. doi: 10.1002/ajmg.a.36813. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487640

10

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K. Kuroda Y, et al. Among authors: kurosawa k. Am J Med Genet A. 2015 Jun;167(6):1349-53. doi: 10.1002/ajmg.a.37002. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900396

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

667 results

Search Page

Filters