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1

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

Fujita, Atsushi, Ochi, Nobuhiko, Fujimaki, Hidehiko, Muramatsu, Hideki, Takahashi, Yoshiyuki, Natsume, Jun, Kojima, Seiji, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Matsumoto, Naomic

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 924 KB

english, 2014

2

De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features

Afifi, Hanan H., Fukai, Ryoko, Miyake, Noriko, Gamal el Din, Amina A., Eid, Maha M., Eid, Ola M., Thomas, Manal M., El-Badry, Tarek H., Tosson, Angie M. S., Abdel-Salam, Ghada M. H., Matsumoto, Naomic

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 2.12 MB

english, 2015

3

In vivo and in vitro measurements of pulmonary arterial stiffness: A brief review

Tian, Lian, Chesler, NaomiC

Journal:

Pulmonary Circulation

Year:

2012

Language:

english

File:

PDF, 1.01 MB

english, 2012

4

Pulmonary vascular wall stiffness: An important contributor to the increased right ventricular afterload with pulmonary hypertension

Chesler, NaomiC, Wang, Zhijie

Journal:

Pulmonary Circulation

Year:

2011

Language:

english

File:

PDF, 1.37 MB

english, 2011

5

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

Hirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka, Nobuko Moriyama, Hideki Horita, Kiyomi Nishiyama, Yuriko Yoneda, Yukiko Kondo, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kiyoshi Hayasaka, Naomic

Journal:

Year:

2012

Language:

english

File:

PDF, 524 KB

english, 2012

6

A novel PITX2 mutation causing iris hypoplasia

Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomic

Journal:

Human Genome Variation

Year:

2014

Language:

english

File:

PDF, 669 KB

english, 2014

7

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomic

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 565 KB

english, 2017

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