Kono M - Search Results

1

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: kono m. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.

2

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M. Kono M, et al. J Invest Dermatol. 2016 Apr;136(4):875-878. doi: 10.1016/j.jid.2015.12.034. Epub 2016 Jan 21. J Invest Dermatol. 2016. PMID: 26802932 Free article. No abstract available.

3

A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.

Kono M, Hasegawa-Murakami Y, Sugiura K, Ono M, Toriyama K, Miyake N, Hatamochi A, Kamei Y, Kosho T, Akiyama M. Kono M, et al. Acta Derm Venereol. 2016 Aug 23;96(6):830-1. doi: 10.2340/00015555-2390. Acta Derm Venereol. 2016. PMID: 26925854 Free article. No abstract available.

4

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria.

Kobayashi T, Kono M, Suganuma M, Akita H, Takai A, Tsutsui K, Inasaka Y, Takeichi T, Muro Y, Akiyama M. Kobayashi T, et al. Among authors: kono m. Nagoya J Med Sci. 2018 May;80(2):267-277. doi: 10.18999/nagjms.80.2.267. Nagoya J Med Sci. 2018. PMID: 29915444 Free PMC article.

5

Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis.

Tanita M, Matsunaga J, Miyamura Y, Dakeishi M, Nakamura E, Kono M, Shimizu H, Tagami H, Tomita Y. Tanita M, et al. Among authors: kono m. J Hum Genet. 2002;47(1):1-6. doi: 10.1007/s10038-002-8648-3. J Hum Genet. 2002. PMID: 11829136

6

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.

Sekiya A, Kono M, Tsujiuchi H, Kobayashi T, Nomura T, Kitakawa M, Suzuki N, Yamanaka K, Sueki H, McLean WH, Shimizu H, Akiyama M. Sekiya A, et al. Among authors: kono m. J Eur Acad Dermatol Venereol. 2017 Jan;31(1):158-162. doi: 10.1111/jdv.13871. Epub 2016 Aug 13. J Eur Acad Dermatol Venereol. 2017. PMID: 27519469

7

Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y. Miyamura Y, et al. Among authors: kono m. Am J Hum Genet. 2003 Sep;73(3):693-9. doi: 10.1086/378209. Epub 2003 Aug 11. Am J Hum Genet. 2003. PMID: 12916015 Free PMC article.

8

Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.

Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, Kono M, Tomita Y, Suzuki T. Konno T, et al. Among authors: kono m. Am J Med Genet A. 2009 Aug;149A(8):1773-6. doi: 10.1002/ajmg.a.32964. Am J Med Genet A. 2009. PMID: 19610114

9

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

Hanamura T, Takeichi T, Okuno Y, Ichikawa D, Kono M, Akiyama M. Hanamura T, et al. Among authors: kono m. J Dermatol. 2018 Jul;45(7):e207-e208. doi: 10.1111/1346-8138.14241. Epub 2018 Jan 31. J Dermatol. 2018. PMID: 29383827 No abstract available.

10

Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

Kono M, Sugiura K, Suganuma M, Hayashi M, Takama H, Suzuki T, Matsunaga K, Tomita Y, Akiyama M. Kono M, et al. Hum Mol Genet. 2013 Sep 1;22(17):3524-33. doi: 10.1093/hmg/ddt207. Epub 2013 May 10. Hum Mol Genet. 2013. PMID: 23666529

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