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2020

Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca

Oiso, N., Kubo, A., Shimizu, A., Suzuki, H., Kosaki, K., Chikugo, T., Nakabayashi, K., Hata, K., Yanagihara, S., Ishikawa, O., Matsubara, Y., Amagai, M. & Kawada, A., 2020, (Accepted/In press) In : International Journal of Dermatology.

Research output: Contribution to journalLetter

Hypercoagulopathy Associated with Uniparental Disomy of Chromosome 2

Takenouchi, T., Yamada, T., Kashiwagi, Y., Yamaguchi, Y., Uehara, T. & Kosaki, K., 2020 Jul 1, In : Journal of Pediatric Hematology/Oncology. 42, 5, p. 370-371 2 p.

Research output: Contribution to journalLetter

2019

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalLetter

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 Dec 1, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2510-2513 4 p.

Research output: Contribution to journalLetter

Sweat retention anhidrosis associated with tubular aggregate myopathy

Ishitsuka, Y., Inoue, S., Furuta, J., Koguchi-Yoshioka, H., Nakamura, Y., Watanabe, R., Okiyama, N., Fujisawa, Y., Enokizono, T., Fukushima, H., Suzuki, H., Nishino, I., Kosaki, K. & Fujimoto, M., 2019 Nov 1, In : British Journal of Dermatology. 181, 5, p. 1104-1106 3 p.

Research output: Contribution to journalLetter

2018

Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

Suzuki, H., Kataoka, M., Hiraide, T., Aimi, Y., Yamada, Y., Katsumata, Y., Chiba, T., Kanekura, K., Isobe, S., Sato, Y., Satoh, T., Gamou, S., Fukuda, K. & Kosaki, K., 2018 Dec 1, In : Circulation. Genomic and precision medicine. 11, 12, p. e002317

Research output: Contribution to journalLetter

1 Citation (Scopus)

SOX17 mutations in Japanese patients with pulmonary arterial hypertension

Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Kanekura, K., Satoh, T., Fukuda, K., Gamou, S. & Kosaki, K., 2018 Nov 1, In : American Journal of Respiratory and Critical Care Medicine. 198, 9, p. 1231-1233 3 p.

Research output: Contribution to journalLetter

4 Citations (Scopus)
2015

Primary Microcephaly with Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM

Nakamura, K., Inui, T., Miya, F., Kanemura, Y., Okamoto, N., Saitoh, S., Yamasaki, M., Tsunoda, T., Kosaki, K., Tanaka, S. & Kato, M., 2015 May 1, In : Pediatric Neurology. 52, 5, p. e7-e8

Research output: Contribution to journalLetter

4 Citations (Scopus)
2012

EEC syndrome-like phenotype in a patient with an IRF6 mutation

Kosaki, R., Kaneko, T., Torii, C. & Kosaki, K., 2012 May 1, In : American Journal of Medical Genetics, Part A. 158 A, 5, p. 1219-1220 2 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age

Osumi, T., Miharu, M., Fuchimoto, Y., Morioka, H., Kosaki, K. & Shimada, H., 2012 Dec 15, In : Pediatric Blood and Cancer. 59, 7, p. 1332-1333 2 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)
2011

Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma

Kosaki, R., Fujita, H., Takada, H., Okada, M., Torii, C. & Kosaki, K., 2011 May 1, In : American Journal of Medical Genetics, Part A. 155, 5, p. 1189-1191 3 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion

Kosaki, R., Fujita, H., Ueoka, K., Torii, C. & Kosaki, K., 2011 Apr 1, In : American Journal of Medical Genetics, Part A. 155, 4, p. 903-905 3 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)

Reproductive success in patients with Hallermann-Streiff syndrome

Numabe, H., Sawai, H., Yamagata, Z., Muto, K., Kosaki, R., Yuki, K. & Kosaki, K., 2011 Sep 1, In : American Journal of Medical Genetics, Part A. 155, 9, p. 2311-2313 3 p.

Research output: Contribution to journalLetter

Three critical issues to consider before implementing a new genome-cohort study in Japan

Tamakoshi, A., Matsui, K., Sato, K., Masui, T. & Maruyama, E., 2011 Mar 31, In : Journal of epidemiology. 21, 2, p. 158-159 2 p.

Research output: Contribution to journalLetter

2010

Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome

Izumi, K., Okuno, H., Maeyama, K., Sato, S., Yamamoto, T., Torii, C., Kosaki, R., Takahashi, T. & Kosaki, K., 2010 Apr 1, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1028-1032 5 p.

Research output: Contribution to journalLetter

10 Citations (Scopus)

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

Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., Torii, C., Kosaki, K., Hasegawa, T. & Neilson, D. E., 2010 Aug 1, In : American Journal of Medical Genetics, Part A. 152, 8, p. 2115-2119 5 p.

Research output: Contribution to journalLetter

6 Citations (Scopus)

Ocular complications in mulvihill-smith syndrome

Ibrahim, O. M. A., Takefumi, Y., Dogru, M., Negishi, K., Kosaki, K. & Tsubota, K., 2010 Jun, In : Eye. 24, 6, p. 1123-1124 2 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

Fujita, H., Yanagi, T., Kosaki, R., Torii, C., Bamba, M., Takahashi, T. & Kosaki, K., 2010 Apr, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1033-1035 3 p.

Research output: Contribution to journalLetter

6 Citations (Scopus)

Two patients with Rubinstein-Taybi syndrome and severe pulmonary interstitial involvement

Kosaki, R., Kikuchi, S., Koinuma, G., Higuchi, M., Torii, C., Kawasaki, K. & Kosaki, K., 2010 Jul, In : American Journal of Medical Genetics, Part A. 152, 7, p. 1844-1846 3 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)
2008

Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation

Kosaki, R., Naito, Y., Torii, C., Takahashi, T., Nakajima, T. & Kosaki, K., 2008 Oct 1, In : American Journal of Medical Genetics, Part A. 146, 19, p. 2574-2577 4 p.

Research output: Contribution to journalLetter

10 Citations (Scopus)

Tietz syndrome: Unique phenotype specific to mutations of MITF nuclear localization signal

Izumi, T., Kohta, A., Kimura, Y., Ishida, S., Takahashi, T., Ishiko, A. & Kosaki, K., 2008 Jul 1, In : Clinical Genetics. 74, 1, p. 93-95 3 p.

Research output: Contribution to journalLetter

20 Citations (Scopus)
2007

Monozygotic twins of smith-magenis syndrome [3]

Kosaki, R., Okuyama, T., Tanaka, T., Migita, O. & Kosaki, K., 2007 Apr 1, In : American Journal of Medical Genetics, Part A. 143, 7, p. 768-769 2 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

Izumi, K., Nakano, M., Kosaki, K., Kosaki, R., Hosogai, N., Matsumoto, H., Hasegawa, T., Takahashi, T. & Kosaki, K., 2007 Dec 1, In : American Journal of Medical Genetics, Part A. 143, 23, p. 2838-2842 5 p.

Research output: Contribution to journalLetter

2006

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF [4]

Izumi, K., Yahagi, N., Fujii, Y., Higuchi, M., Kosaki, R., Naito, Y., Nishimura, G., Hosokai, N., Takahashi, T. & Kosaki, K., 2006 Feb 15, In : American Journal of Medical Genetics. 140 A, 4, p. 398-401 4 p.

Research output: Contribution to journalLetter

17 Citations (Scopus)

Molecular pathology of Shprintzen-Goldberg syndrome [4]

Kosaki, K., Takahashi, D., Udaka, T., Kosaki, R., Matsumoto, M., Ibe, S., Isobe, T., Tanaka, Y. & Takahashi, T., 2006 Jan 1, In : American Journal of Medical Genetics. 140 A, 1, p. 104-108 5 p.

Research output: Contribution to journalLetter

59 Citations (Scopus)
2005

Iridic and retinal coloboma associated with prenatal methimazole exposure [1]

Aramaki, M., Hokuto, I., Matsumoto, T., Ishimoto, H., Inoue, M., Kimura, T., Oikawa, Y. I., Ikeda, K., Yoshimura, Y., Takahashi, T. & Kosaki, K., 2005 Dec 1, In : American Journal of Medical Genetics, Part A. 139 A, 2, p. 156-158 3 p.

Research output: Contribution to journalLetter

16 Citations (Scopus)

OEIS complex with del(3)(q12.2q13.2) [3]

Kosaki, R., Fukuhara, Y., Kosuga, M., Okuyama, T., Kawashima, N., Honna, T., Ueoka, K. & Kosaki, K., 2005 Jun 1, In : American Journal of Medical Genetics. 135 A, 2, p. 224-226 3 p.

Research output: Contribution to journalLetter

43 Citations (Scopus)
2004

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13 [1]

Tamame, T., Hori, N., Homma, H., Yoshida, R., Inokuchi, M., Kosaki, K., Takahashi, T. & Hasegawa, T., 2004 Sep 1, In : American Journal of Medical Genetics. 129 A, 3, p. 321-322 2 p.

Research output: Contribution to journalLetter

8 Citations (Scopus)

Somatic PTPN11 mutation with a heterogenous clonal origin in children with juvenile myelomonocytic leukemia [3]

Shimada, H., Mori, T., Shimasaki, N., Shimizu, K., Takahashi, T. & Kosaki, K., 2004 Jun, In : Leukemia. 18, 6, p. 1142-1144 3 p.

Research output: Contribution to journalLetter

9 Citations (Scopus)
2001

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome [1]

Kosaki, R., Ohashi, H., Yoshihashi, H., Suzuki, T. & Kosaki, K., 2001 Nov 12, In : Clinical Genetics. 60, 4, p. 314-315 2 p.

Research output: Contribution to journalLetter

16 Citations (Scopus)

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)

Kosaki, K., Shimasaki, N., Fukushima, H., Hara, M., Ogata, T. & Matsuo, N., 2001, In : American Journal of Human Genetics. 69, 3, p. 664-665 2 p.

Research output: Contribution to journalLetter

27 Citations (Scopus)
2000

Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.

Kosaki, K., Kosaki, R., Robinson, W. P., Craigen, W. J., Shaffer, L. G., Sato, S. & Matsuo, N., 2000 Sep, In : Journal of medical genetics. 37, 9, p. E19

Research output: Contribution to journalLetter

Open Access
15 Citations (Scopus)

Isoform-specific imprinting of the human PEG1/MEST gene [1]

Kosaki, K., Kosaki, R., Craigen, W. J. & Matsuo, N., 2000 Jan 1, In : American Journal of Human Genetics. 66, 1, p. 309-312 4 p.

Research output: Contribution to journalLetter

60 Citations (Scopus)