Izumi K - Search Results

1

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: izumi k. Genet Test. 2006 Winter;10(4):265-71. doi: 10.1089/gte.2006.10.265. Genet Test. 2006. PMID: 17253932

2

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF.

Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T, Kosaki K. Izumi K, et al. Am J Med Genet A. 2006 Feb 15;140(4):398-401. doi: 10.1002/ajmg.a.31061. Am J Med Genet A. 2006. PMID: 16419134 No abstract available.

3

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.

Niu DM, Huang JY, Li HY, Liu KM, Wang ST, Chen YJ, Udaka T, Izumi K, Kosaki K. Niu DM, et al. Among authors: izumi k. Prenat Diagn. 2006 Nov;26(11):1054-7. doi: 10.1002/pd.1554. Prenat Diagn. 2006. PMID: 16958143

4

[Russell-Silver syndrome].

Kosaki K, Izumi K, Hasegawa T. Kosaki K, et al. Among authors: izumi k. Nihon Rinsho. 2006 Sep 28;Suppl 3:436-9. Nihon Rinsho. 2006. PMID: 17022582 Review. Japanese. No abstract available.

5

EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

Torii C, Izumi K, Nakajima H, Takahashi T, Kosaki K. Torii C, et al. Among authors: izumi k. Congenit Anom (Kyoto). 2007 Mar;47(1):49-52. doi: 10.1111/j.1741-4520.2006.00140.x. Congenit Anom (Kyoto). 2007. PMID: 17300690

6

Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo.

Izumi K, Aramaki M, Kimura T, Naito Y, Udaka T, Uchikawa M, Kondoh H, Suzuki H, Cho G, Okada Y, Takahashi T, Golden JA, Kosaki K. Izumi K, et al. Pediatr Res. 2007 Jun;61(6):660-5. doi: 10.1203/pdr.0b013e318053423a. Pediatr Res. 2007. PMID: 17426652

7

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K. Kosaki R, et al. Among authors: izumi k. Am J Med Genet A. 2007 May 15;143A(10):1087-90. doi: 10.1002/ajmg.a.31700. Am J Med Genet A. 2007. PMID: 17431915

8

Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.

Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K. Izumi K, et al. Pediatr Neurol. 2007 Apr;36(4):258-60. doi: 10.1016/j.pediatrneurol.2006.11.015. Pediatr Neurol. 2007. PMID: 17437911

9

Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: evidence regarding developmental pathogenesis.

Izumi K, Jones KL, Kosaki K, Benirschke K. Izumi K, et al. Fetal Pediatr Pathol. 2006 Sep-Oct;25(5):233-40. doi: 10.1080/15513810601123326. Fetal Pediatr Pathol. 2006. PMID: 17438663

10

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.

Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K. Samejima H, et al. Among authors: izumi k. Genet Test. 2007 Fall;11(3):216-27. doi: 10.1089/gte.2006.0519. Genet Test. 2007. PMID: 17949281

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