Izumi K - Search Results

1

Clinical and molecular spectrum of CHOPS syndrome.

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K. Raible SE, et al. Among authors: izumi k. Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31058441 Free PMC article.

2

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

3

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

4

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K. Izumi K, et al. Am J Med Genet A. 2008 Aug 1;146A(15):1967-71. doi: 10.1002/ajmg.a.32120. Am J Med Genet A. 2008. PMID: 18561337

5

Case report: Adult phenotype of Mulvihill-Smith syndrome.

Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Yagihashi T, et al. Among authors: izumi k. Am J Med Genet A. 2009 Mar;149A(3):496-500. doi: 10.1002/ajmg.a.32551. Am J Med Genet A. 2009. PMID: 19213035

6

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.

Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Izumi K, et al. Am J Med Genet A. 2010 Aug;152A(8):2115-9. doi: 10.1002/ajmg.a.33511. Am J Med Genet A. 2010. PMID: 20635356 No abstract available.

7

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.

Izumi K, Brooks SS, Feret HA, Zackai EH. Izumi K, et al. Am J Med Genet A. 2012 Jul;158A(7):1535-41. doi: 10.1002/ajmg.a.35368. Epub 2012 May 21. Am J Med Genet A. 2012. PMID: 22614953

8

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Izumi K, et al. Am J Med Genet A. 2012 Dec;158A(12):3033-45. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169682

9

Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.

Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M. Kostanecka A, et al. Among authors: izumi k. Am J Med Genet A. 2012 Dec;158A(12):3018-25. doi: 10.1002/ajmg.a.35670. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169763

10

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID. Wilkens A, et al. Among authors: izumi k. Am J Med Genet A. 2012 Dec;158A(12):3002-17. doi: 10.1002/ajmg.a.35722. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169767

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