Chiyo H - Search Results

1

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.

Pooh RK, Machida M, Imoto I, Arai EN, Ohashi H, Takeda M, Shimokawa O, Fukuta K, Shiozaki A, Saito S, Chiyo H. Pooh RK, et al. Among authors: chiyo h. Genes (Basel). 2021 Mar 2;12(3):358. doi: 10.3390/genes12030358. Genes (Basel). 2021. PMID: 33801456 Free PMC article.

2

Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development.

Pooh RK, Machida M, Nakamura T, Uenishi K, Chiyo H, Itoh K, Yoshimatsu J, Ueda H, Ogo K, Chaemsaithong P, Poon LC. Pooh RK, et al. Among authors: chiyo h. Ultrasound Obstet Gynecol. 2019 Aug;54(2):199-206. doi: 10.1002/uog.20171. Epub 2019 Jul 8. Ultrasound Obstet Gynecol. 2019. PMID: 30381845 Free PMC article.

3

Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

Okamoto N, Wada Y, Ida S, Koga R, Ozono K, Chiyo H, Hayashi A, Tatsumi K. Okamoto N, et al. Among authors: chiyo h. Hum Mol Genet. 1994 Sep;3(9):1565-8. doi: 10.1093/hmg/3.9.1565. Hum Mol Genet. 1994. PMID: 7833912

4

A Japanese patient with the Costello syndrome.

Okamoto N, Chiyo H, Imai K, Otani K, Futagi Y. Okamoto N, et al. Among authors: chiyo h. Hum Genet. 1994 May;93(5):605-6. doi: 10.1007/BF00202834. Hum Genet. 1994. PMID: 8168845

5

Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.

Okamoto N, Wada Y, Nakamura Y, Nakayama M, Chiyo H, Murayama K, Inoue T, Kanzaki A, Yawata Y, Hirono A, et al. Okamoto N, et al. Among authors: chiyo h. Am J Med Genet. 1995 Sep 11;58(3):225-9. doi: 10.1002/ajmg.1320580306. Am J Med Genet. 1995. PMID: 8533822 Review.

6

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y. Takahashi C, et al. Among authors: chiyo h. J Hum Genet. 2009 Jul;54(7):403-8. doi: 10.1038/jhg.2009.55. Epub 2009 Jun 26. J Hum Genet. 2009. PMID: 19557015

7

Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.

Hashimoto T, Tsukino R, Chiyo H, Furuyama J. Hashimoto T, et al. Among authors: chiyo h. Hum Genet. 1980 Feb;53(2):145-7. doi: 10.1007/BF00273485. Hum Genet. 1980. PMID: 7358380

8

Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21.

Kitatani M, Chiyo H, Ozaki M, Shike S, Miwa S. Kitatani M, et al. Among authors: chiyo h. Hum Genet. 1988 Jan;78(1):94-5. doi: 10.1007/BF00291244. Hum Genet. 1988. PMID: 3338796

9

Possible intrachromosomal duplication in a case of trisomy 9p.

Chiyo H, Furuyama J, Suehara N, Obashi Y, Kikkawa H. Chiyo H, et al. Hum Genet. 1976 Oct 28;34(2):217-21. doi: 10.1007/BF00278892. Hum Genet. 1976. PMID: 1002145

10

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.

Yamamoto K, Yoshihashi H, Furuya N, Adachi M, Ito S, Tanaka Y, Masuno M, Chiyo H, Kurosawa K. Yamamoto K, et al. Among authors: chiyo h. Congenit Anom (Kyoto). 2009 Mar;49(1):8-14. doi: 10.1111/j.1741-4520.2008.00212.x. Congenit Anom (Kyoto). 2009. PMID: 19243411

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