Kuroda Y - Search Results

1

A Japanese patient with RAD51-associated Fanconi anemia.

Takenaka S, Kuroda Y, Ohta S, Mizuno Y, Hiwatari M, Miyatake S, Matsumoto N, Oka A. Takenaka S, et al. Among authors: kuroda y. Am J Med Genet A. 2019 Jun;179(6):900-902. doi: 10.1002/ajmg.a.61130. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30907510

2

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. 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

3

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. 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

4

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K. Kuroda Y, et al. Am J Med Genet A. 2014 Nov;164A(11):2873-8. doi: 10.1002/ajmg.a.36704. Epub 2014 Aug 6. Am J Med Genet A. 2014. PMID: 25099823

5

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. 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

6

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. 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

7

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K. Kuroda Y, et al. Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914220 No abstract available.

8

Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.

Kuroda Y, Mizuno Y, Mimaki M, Oka A, Sato Y, Ogawa S, Kurosawa K. Kuroda Y, et al. Clin Dysmorphol. 2017 Oct;26(4):224-227. doi: 10.1097/MCD.0000000000000185. Clin Dysmorphol. 2017. PMID: 28557812 No abstract available.

9

Kuroda Y, Murakami H, Yokoi T, Kumaki T, Enomoto Y, Tsurusaki Y, Kurosawa K. Kuroda Y, et al. Brain Dev. 2019 Jun;41(6):538-541. doi: 10.1016/j.braindev.2019.02.007. Epub 2019 Feb 20. Brain Dev. 2019. PMID: 30795918

10

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K. Kuroda Y, et al. Clin Genet. 2019 Jun;95(6):713-717. doi: 10.1111/cge.13530. Epub 2019 Apr 11. Clin Genet. 2019. PMID: 30847897

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