Izumi K - Search Results

1

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. Izumi K, et al. Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476655 Free PMC article.

2

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Izumi K, et al. Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2. Nat Genet. 2015. PMID: 25730767 Free PMC article.

3

Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy.

Izumi K, Kubota N, Arakawa M, Takayama M, Harada Y, Nakamura T, Nishi E, Hidaka E. Izumi K, et al. Am J Med Genet A. 2015 Jun;167(6):1289-93. doi: 10.1002/ajmg.a.36921. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847371

4

Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.

Izumi K, Kellogg E, Fujiki K, Kaur M, Tilton RK, Noon S, Wilkens A, Shirahige K, Krantz ID. Izumi K, et al. Am J Med Genet A. 2015 Jun;167(6):1268-74. doi: 10.1002/ajmg.a.36976. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900123

5

The Deubiquitinating Enzyme USP7 Regulates Androgen Receptor Activity by Modulating Its Binding to Chromatin.

Chen ST, Okada M, Nakato R, Izumi K, Bando M, Shirahige K. Chen ST, et al. Among authors: izumi k. J Biol Chem. 2015 Aug 28;290(35):21713-23. doi: 10.1074/jbc.M114.628255. Epub 2015 Jul 14. J Biol Chem. 2015. PMID: 26175158 Free PMC article.

6

Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

Masuda K, Akiyama K, Arakawa M, Nishi E, Kitazawa N, Higuchi T, Katou Y, Shirahige K, Izumi K. Masuda K, et al. Among authors: izumi k. Mol Syndromol. 2015 Jul;6(2):99-103. doi: 10.1159/000375542. Epub 2015 Mar 3. Mol Syndromol. 2015. PMID: 26279656 Free PMC article.

7

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB. Izumi K, et al. Am J Med Genet A. 2016 Feb;170A(2):471-475. doi: 10.1002/ajmg.a.37429. Epub 2015 Oct 13. Am J Med Genet A. 2016. PMID: 26463753

8

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K. Fujiki K, et al. Among authors: izumi k. Mol Genet Genomic Med. 2016 Jan 20;4(3):257-61. doi: 10.1002/mgg3.200. eCollection 2016 May. Mol Genet Genomic Med. 2016. PMID: 27247953 Free PMC article.

9

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.

Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K. Nishi E, et al. Among authors: izumi k. Am J Med Genet A. 2016 Nov;170(11):2889-2894. doi: 10.1002/ajmg.a.37826. Epub 2016 Aug 26. Am J Med Genet A. 2016. PMID: 27566442

10

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N; DDD Study; Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM. Nixon KCJ, et al. Among authors: izumi k. Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14. Am J Hum Genet. 2019. PMID: 30879640 Free PMC article.

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