Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Kunitaka Joh-o"'
Autor:
Naoto Takahashi, Shinichi Watabe, Satoshi Kusuda, Hisashi Kaneda, Takami Saitoh, Masaru Terai, Atsushi Ohashi, Yuichi Kato, Katsuki Hirai, Kunitaka Joh-o
Publikováno v:
Pediatrics International. 53:368-373
Background: Respiratory syncytial virus (RSV) infection is a major cause of hospitalization during the winter among infants and young children. In 2002 palivizumab was introduced to high-risk infants for RSV hospitalization in Japan. It is important
Autor:
Atsuyoshi Takao, Shin-ichiro Imamura, Kazuo Momma, Misa Kimura, Hamao Hirota, Kunitaka Joh-o, Masahiko Ando, Rumiko Matsuoka
Publikováno v:
American Journal of Medical Genetics. 64:473-477
Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia. Molecular genetic s
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
Autor:
Misa Kimura, Kunitaka Joh-o, Chisato Kondo, Shin-ichiro Imamura, Atsuyoshi Takao, Makoto Nishibatake, Rumiko Matsuoka, Kazuo Momma, Masahiko Ando, Kazuo Ikeda
Publikováno v:
American Journal of Medical Genetics. 53:285-289
The so-called "conotruncal anomaly face syndrome" (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet right
Autor:
Satoshi, Kusuda, Naoto, Takahashi, Takami, Saitoh, Masaru, Terai, Hisashi, Kaneda, Yuichi, Kato, Atsushi, Ohashi, Shinichi, Watabe, Kunitaka, Joh-o, Katsuki, Hirai
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 53(3)
Respiratory syncytial virus (RSV) infection is a major cause of hospitalization during the winter among infants and young children. In 2002 palivizumab was introduced to high-risk infants for RSV hospitalization in Japan. It is important to character
Autor:
Taichi Kato, Kunitaka Joh-o, Misa Kimura, Kazuki Kosaka, Masahiko Ando, Atsuyoshi Takao, Osamu Yamada, Akira Ohtake, Rumiko Matsuoka, Kazumasa Iwai, Kenji Kuroe, Shin-ichiro Imamura, Kazuo Momma
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 5(2)
Purpose: To elucidate whether thrombocytopenia in 22q11.2 deletion syndrome patients is associated with the hemizygosity of glycoprotein Ib-β and to clarify the correlation of phenotype and genotype of this gene in 22q11.2 deletion syndrome patients
Autor:
Tetsuji Yuge, Toshiro Hara, Kouichi Kusuhara, Takuro Ohno, Kunitaka Joh-o, Hidehiko Kariyazono, Hisaji Igarashi, Naoko Kinugawa
Publikováno v:
European journal of pediatrics. 161(2)
We investigated the possible use of serum hepatocyte growth factor (HGF) and vascular endothelial growth factor (VEGF) levels as a predictive indicator for the occurrence of coronary artery lesions (CAL) in Kawasaki disease (KD). Serum HGF and VEGF l
Publikováno v:
European journal of pediatrics. 159(6)
We investigated serum vascular endothelial growth factor (SVEGF) levels in Kawasaki disease and determined whether these levels had any association with the development of coronary artery lesions. We measured SVEGF levels in 66 patients with Kawasaki
Autor:
Hiroyuki Yamagishi, Rumiko Matsuoka, Kunitaka Joh-o, Misa Kimura, Kotaro Oyama, Seiichi Watanabe, Masahiko Ando, Kazuo Momma, Nobuyoshi Shimizu, Tsutomu Saji, Peter J. Scambler, Shin Ichiro Imamura, Atsuyoshi Takao, Bernice E. Morrow, Shinsei Minoshima
Publikováno v:
Human genetics. 103(1)
To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a r
Autor:
Rumiko Matsuoka, Yoshiyuki Furutani, Atsuyoshi Takao, Misa Kimura, Shoichi Arai, Masaharu Tamura, Kunitaka Joh-o, Tenkou Ozawa, Kazuo Momma, Hisanao Sakurai, Masatoshi Kawana, Shin-ichiro Imamura, Kenji Hirayama, Saichi Hosoda
Publikováno v:
American journal of medical genetics. 58(3)
Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. We describe a missense mutation of the {beta}-cardiac myosin heavy chain (MHC) gene, a G to T transversion (741 Gly{r