Kosaki K - Search Results

1

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: kosaki k. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813

2

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. Matsuo M, et al. Among authors: kosaki k. Am J Med Genet. 1999 Sep 3;86(1):44-50. Am J Med Genet. 1999. PMID: 10440827 Review.

3

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Yoshihashi H, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2000 Aug;67(2):476-82. doi: 10.1086/302997. Epub 2000 Jun 12. Am J Hum Genet. 2000. PMID: 10856193 Free PMC article.

4

Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.

Kosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N. Kosaki K, et al. Among authors: kosaki r. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):111-9. doi: 10.1016/s0165-022x(00)00157-3. J Biochem Biophys Methods. 2001. PMID: 11179767

5

[Short-limb skeletal dysplasia with immunodeficiency].

Kosaki K, Yoshihashi H. Kosaki K, et al. Ryoikibetsu Shokogun Shirizu. 2000;(32):324-6. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11212732 Review. Japanese. No abstract available.

6

Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.

Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K. Maeyama K, et al. Among authors: kosaki r, kosaki k. Teratology. 2001 Mar;63(3):119-26. doi: 10.1002/tera.1022. Teratology. 2001. PMID: 11283968

7

[Dermal hypoplasia, focal].

Kosaki K, Yoshihashi H. Kosaki K, et al. Ryoikibetsu Shokogun Shirizu. 2001;(33):545-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462561 Review. Japanese. No abstract available.

8

[Dwarfism (short limbed)--Peters anomaly of the eye].

Kosaki K, Yoshihashi H. Kosaki K, et al. Ryoikibetsu Shokogun Shirizu. 2001;(33):574-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462576 Review. Japanese. No abstract available.

9

[Silver-Russell syndrome].

Kosaki K, Yoshihashi H. Kosaki K, et al. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):635-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528937 Review. Japanese. No abstract available.

10

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.

Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Clin Genet. 2001 Oct;60(4):314-5. doi: 10.1034/j.1399-0004.2001.600411.x. Clin Genet. 2001. PMID: 11683779 No abstract available.

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