Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Yasuko Yamanouchi"'
Autor:
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperexten
Externí odkaz:
https://doaj.org/article/63f7d5ce849d459d832de890c1b99d1a
Autor:
Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-6 (2022)
Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnorma
Externí odkaz:
https://doaj.org/article/b4113a2a404e4759b2900d95661efd41
Autor:
Yasuko Yamanouchi, Hideaki Sawai, Hideaki Masuzaki, Makoto Kanai, Hidehiko Miyake, Yoichi Matsubara, Naoko Arimori, Fumio Takada, Shigehito Yamada, Yuka Ozasa, Fumiki Hirahara, Akihiko Sekizawa, Yosuke Fujii, Haruhiko Sago, Koji Kugu
Publikováno v:
Journal of Human Genetics. 61:879-884
Prenatal testing has been provided in Japan over the past several decades. However, it is difficult to assess the clinical status of amniocentesis (AC) and maternal serum markers (MSM) because obstetricians can perform these tests without registratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f517a711ab704bcb20335e927740e0
https://doi.org/10.1038/jhg.2016.67
https://doi.org/10.1038/jhg.2016.67
Autor:
Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, Hideaki Sawai, Naoko Arimori, Yasuko Yamanouchi, Yuka Ozasa, Makoto Kanai, Haruhiko Sago, Akihiko Sekizawa, Fumio Takada, Hideaki Masuzaki, Yoichi Matsubara, Fumiki Hirahara, Koji Kugu
Publikováno v:
Journal of human genetics. 63(11)
Since the publication of this paper, the authors noticed that Yosuke Fujii was assigned to the incorrect affiliation. The affiliation information is provided correctly, above.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ec6b203b4ea44c5c45d001e3984c431
https://pubmed.ncbi.nlm.nih.gov/27357425
https://pubmed.ncbi.nlm.nih.gov/27357425
Autor:
Shinsuke Ninomiya, Banyar Than Naing, Yoshikazu Kuroki, Kazunobu Ouchi, Mitsuo Masuno, Yasunori Ueda, Eisei Kondo, Yasuko Yamanouchi, Wataru Fujimoto, Kazushige Kadota, Mika Inoue, Tatsuya Kotaka, Takashi Shimada, Atsushi Watanabe
Publikováno v:
Congenital Anomalies. 52:207-210
We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6f575f8efe3b299e374674c85f07519
https://doi.org/10.1111/j.1741-4520.2011.00353.x
https://doi.org/10.1111/j.1741-4520.2011.00353.x
Publikováno v:
Menopause. 15:119-124
The purpose of this study was to investigate whether the level of selenium in serum or the level of selenium in erythrocytes (E-Se) was associated with serum lipid parameters (total cholesterol [TC], triglycerides, and high-density and low-density li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e87d65d289b4f06528a366ae54d4fb
https://doi.org/10.1097/gme.0b013e31806bf32c
https://doi.org/10.1097/gme.0b013e31806bf32c
Autor:
Junji Oku, Takako Takano, Kazue Yamaoka, Yasuko Yamanouchi, Eiji Yano, Hideki Hashimoto, Tomonari Kisaki
Publikováno v:
Journal of Health Science. 52:532-539
Serum lipid level increases during hormonal transition before and after menopause. In Caucasians, changes in lipid level after menopause across apolipoprotein E (apo E) genotypes were studied. We investigated 159 Japanese healthy female workers (age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76fb842d612ec631457fbe4add4bae41
https://doi.org/10.1248/jhs.52.532
https://doi.org/10.1248/jhs.52.532
Publikováno v:
Annales de Génétique. 46:57-60
A Japanese girl was diagnosed as true hermaphroditism with 46,X,+mar/46,XY and the marker chromosome was determined on the short arm of chromosome 22 without alpha-satellite by fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa9708a4c8eb43716c1c658b54c1a59
https://doi.org/10.1016/s0003-3995(03)00008-x
https://doi.org/10.1016/s0003-3995(03)00008-x
Publikováno v:
Journal of Human Genetics. 46:633-639
A tandem 24-bp insertion in the apolipoprotein E (apo E) gene was detected in a patient with elevated triglyceride, apolipoprotein (apo) CII, and apo CIII levels. This novel variant, apo E5ss, showed in position apo E5 by isoelectric focusing and was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a6088d61a551670b2afee1dc2d08d9
https://doi.org/10.1007/s100380170014
https://doi.org/10.1007/s100380170014
Autor:
Takako Takano, Yukishige Yanagawa, Toshihiro Tsuzuku, Hiroko Kodama, Daishi Mochizuki, Kazuhiko Omi, Yasuko Fujita, Masaaki Kobayashi, Yasuko Yamanouchi, Yosuke Mori, Toshiaki Abe, Natsue Nakamoto
Publikováno v:
American Journal of Medical Genetics. 92:195-199
We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1c626936ab997ceb632af6ee01c5982
https://doi.org/10.1002/(sici)1096-8628(20000529)92:3<195::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(20000529)92:3<195::aid-ajmg7>3.0.co