Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Takuya Kaneshi"'
Autor:
Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His f
Externí odkaz:
https://doaj.org/article/d944f351a5164a32a378e289fbbd4bb4
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 10, Pp 2265-2277 (2005)
The proportion of the electronegative low density lipoprotein [LDL(−)] subfraction, which is atherogenic, is increased in type 2 diabetes but is not reduced by glycemic control. Therefore, we evaluated the ability of a new technique, capillary isot
Externí odkaz:
https://doaj.org/article/1e697a670a3b468aa02a8e00816f0e84
Autor:
Yasutsugu Chinen, Tadashi Kaname, Kumiko Yanagi, Koichi Nakanishi, Mami Nakayashiro, Takuya Kaneshi, Kenji Naritomi, Sadao Nakamura
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019)
Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe9a59d027f06b7648e3518a32984fad
http://hdl.handle.net/20.500.12000/45906
http://hdl.handle.net/20.500.12000/45906
Autor:
Takuya Kaneshi, Takeshi Kamiya, Gen Nishimura, Yasutsugu Chinen, Tadashi Kaname, Kenichiro Hata
Publikováno v:
American Journal of Medical Genetics Part A. 167:2834-2838
Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bdca2b9f91889c3fac9530ed5425c82
https://doi.org/10.1002/ajmg.a.37278
https://doi.org/10.1002/ajmg.a.37278
Autor:
Takao Ohta, Takuya Kaneshi, Tomohide Yoshida, Yoshihide Asato, Hiraku Nagasaki, Tatsuo Ohshiro
Publikováno v:
Pediatrics International. 49:138-143
Background: Low birthweight (LBW) is associated with an increased risk for atherosclerotic coronary heart disease (ACHD) later in life. However, little information is currently available on the relationship between birthweight (BW) and risk factors f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac615928ec98b404c61d1ba0883a75f6
https://doi.org/10.1111/j.1442-200x.2007.02333.x
https://doi.org/10.1111/j.1442-200x.2007.02333.x
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 91:2133-2137
C-Reactive protein (CRP) is an independent risk factor for atherosclerotic coronary heart diseases (ACHD) in adults. To help prevent ACHD, it may be useful to understand risk factors during childhood.The objective of this study was to investigate ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5d59948f94468826578f4e81afbc15d
https://doi.org/10.1210/jc.2005-2856
https://doi.org/10.1210/jc.2005-2856
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 10, Pp 2265-2277 (2005)
The proportion of the electronegative low density lipoprotein [LDL(-)] subfraction, which is atherogenic, is increased in type 2 diabetes but is not reduced by glycemic control. Therefore, we evaluated the ability of a new technique, capillary isotac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852fd4789788732b6c989f4e93c5fd80
http://www.sciencedirect.com/science/article/pii/S0022227520329175
http://www.sciencedirect.com/science/article/pii/S0022227520329175