Changes in Plasma Constituents of Crossbred (Aigamo) Ducks During the Winter Season

Autor: Yusuke Koga, Shin Saito, Kunio Kaneko, Yasuhiro Kido, Mitsuhiro Furuse

Publikováno v: The Journal of Poultry Science, Vol 41, Iss 2, Pp 131-139 (2004)

Changes in plasma constituents in the crossbred (aigamo) duck (female Japanese mallard duck × male mallard) were successively investigated at two-week intervals during winter from December to March. The pattern of changes in plasma triacylglycerol a

Externí odkaz: https://doaj.org/article/0e3ab5d0fadc44c8abf9fb92b6644506

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing

Autor: Yumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, Hiroaki Murakami, Makiko Tominaga, Mari Minatogawa, Chihiro Abe‐Hatano, Yukiko Kuroda, Ikuko Ohashi, Kazumi Ida, Shizuka Shiiya, Tatsuro Kumaki, Takuya Naruto, Jun Mitsui, Noriaki Harada, Yasuhiro Kido, Kenji Kurosawa

Publikováno v: Clinical Genetics. 101:335-345

Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying genetic and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6707e72c9497128ebbb8bc8b924be4e
https://doi.org/10.1111/cge.14103

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Autor: Nancy Vegas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y. Tan, Alex Henderson, Paulien Terhal, Lina Basel‐Salmon, Adila Alkindy, Susan M. White, Maria R. Passos‐Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel

Publikováno v: Human Mutation, 43(5), 582-594. Wiley
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
HUMAN MUTATION
Human mutation, Vol. 43, no.5, p. 582-594 (2022)
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H, Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes, E H, Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661f735be3403039ebcf14eb38e4c5e2
https://research.rug.nl/en/publications/388c7421-7f5d-468c-9b09-d7578382d0fa

Current status of non‐invasive prenatal testing in Japan

Autor: Katsuhiko Naruse, Naoki Takeshita, Aiko Kakigano, Akimune Fukushima, Norio Miharu, Hideaki Masuzaki, Naoki Hamajima, Tatsuko Hirose, Yasuhiro Kido, Masanobu Ogawa, Osamu Samura, Reiko Neki, Takeshi Kanagawa, Hideaki Sawai, Yoshimasa Kamei, Takahiro Yamada, Yukiko Katagiri, Keiichi Matsubara, Haruka Hamanoue, Yoko Okamoto, Masaki Ogawa, Nahoko Shirato, Michihiro Kitagawa, Akira Namba, Haruki Nishizawa, Takashi Kaji, Jun Murotsuki, Toshiyuki Fukao, Masaya Hirose, Akihiko Sekizawa, Kazufumi Haino, Tomohiro Tanemoto, Takeshi Nagamatsu, Nobuhiro Suzumori, Aiko Sasaki, Seiji Wada, Shinya Tairaku, Hisashi Masuyama, Kazuhisa Maeda, Kiyonori Miura, Miyuki Nishiyama, Hisao Osada, Maki Hyodo, Shun-ichiro Izumi, Yukie Kawano, Junko Yotsumoto, Yasuyo Kasai, Ayako Sanui, Kiyotake Ichizuka, Haruhiko Sago, Setsuko Nakayama, Takashi Ohba, Hiroaki Nakamura, Fumiki Hirahara, Atsushi Watanabe, Takashi Okai

Publikováno v: Journal of Obstetrics and Gynaecology Research. 43:1245-1255

Aim The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. Methods Tests

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9491f12032d31d218b7c37ede79dcfe6
https://doi.org/10.1111/jog.13373

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss

Autor: Satoru Sakazume, Hironao Numabe, Yasuhiro Kido, Tomoyo Matsubara, Nobuyuki Murakami

Publikováno v: Pediatrics International. 57:880-883

Background To the best of our knowledge, this is the third report concerning 4q21q22 deletions. In this report, we describe the cases of two girls with 4q deletion and polycystic kidney disease. G-banding confirmed the deletion in one patient but not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f40665b3ef2ad1bebb5bb26f767367e8
https://doi.org/10.1111/ped.12742