Presentations
Hasegawa, Tomonobu
3621-3640 items (total 4334)
H62L変異が同定された21水酸化酵素欠損症の1例
- Speaker
- 高里良宏、遠山章子、河野美緒、富田瑞枝、池宮城雅子、内藤陽子、真路展彰、上牧勇、佐藤清二、長谷川奉延
- Conference Title
- [Conference Category Domestic presentation] Dates 2009.12.13 - 2009.12.13
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)
The p.L145F Mutation in the LRP5 Gene Responsible for Familial Exudative Vitreoretinopathy was Identified in a Patient with Osteoporosis-Pseudoglioma Syndrome
- Speaker
- Watanabe Y, Yano S, Narumi S, Hasegawa T, Yoshino M, Matsuishi T
- Conference Title
- Conference Title The American Society for Human Genetics The 59th Annual Meeting（Venue USA） Dates 2009.10.24 - 2009.10.24
- Language of Publication
- English
- Remarks
- 2009.10.20-24
Late Manifestations of Tricho-Rhino-Pharangeal syndrome: Expanded Skeletal Phenotype in Adulthood
- Speaker
- Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE
- Conference Title
- Conference Title The American Society for Human Genetics The 59th Annual Meeting（Venue USA） Dates 2009.10.20 - 2009.10.20
- Language of Publication
- English
- Remarks
- 2009.10.20-24
KDEL ER-retention signal is essential for prolyl 3-hydroxylase 1; a novel compound heterozygous mutations in LEPRE1 causes osteogenesis imperfect type III
- Speaker
- Takagi M, Ishii T, Amano N, Nishimura G, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting 2009.9.12 Dates 2009.09.12 - 2009.09.12
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
Genetic congenital hypothyroidism: who’s at risk?, and how do we identify them?
- Speaker
- Narumi S, Murota K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.12 - 2009.09.12
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Oral presentation (general)
Clinical variations of hypopituitarism exhibiting an invisible pituitary stalk by MRI
- Speaker
- Mizuno H, Sugiyama Y, Imamine H, Hasegawa T, Takagi M, Togari H
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.11 - 2009.09.11
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias
- Speaker
- Ishii T, Hayashi M, Suwanai S, Takagi M, Narumi S, Amano N, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.11 - 2009.09.11
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
Osteosclerotic variant of osteogenesis imperfect with a mutant in the C-propeptide region of COL1A1 gene
- Speaker
- Hori N, Nishimura G, Takagi M, Chinen Y, Kurosawa K, Tanaka Y, Oku K, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.11 - 2009.09.11
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
Urinary free steroids in newborn infants with 21-hydroxylase deficiency using stable isotope dilution gas chromatography / mass spectrometry.
- Speaker
- Koyama Y, Homma K, Miwa M, Ikeda K, Muroya K, Murata M, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.11 - 2009.09.11
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
Activity of fetal adrenal in Japanese preterm infants using steroid profile by gas chromatography / mass spectrometry
- Speaker
- Homma K, Koyama Y, Miwa M, Hida M, Ikeda K, Murata M, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.11 - 2009.09.11
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
A novel genetic diagnosis of glucocorticoid remediable aldosteronism
- Speaker
- Hayashi M, Ishii T, Narumi S, Amano N, Kamimaki T, Sato S, Hasegawa T
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.11 - 2009.09.11
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
Evaluation of sensitive detection methods for somatic mosaicism of GNAS1 mutation in patients with McCune-Albright syndrome.
- Speaker
- Matsuo K, Suzuki S, Maimaiti M, Mukai T, Hamajima T, Motomura K, Naiki Y, Ogata T, Tajima T, Hasegawa T, Fujieda K
- Conference Title
- [Conference Category International presentation] Conference Title LWPES/ESPE 8th Joint Meeting Dates 2009.09.10 - 2009.09.10
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
骨形成不全症のご本人およびご家族にご理解いただきたい遺伝のお話
- Speaker
- HASEGAWA TOMONOBU
- Conference Title
- [Conference Category Domestic presentation] Dates 2012.08.05 - 2012.08.05
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)
母体の卵管造影によりヨード過剰を来たし一過性甲状腺機能低下症となった新生児の一例
- Speaker
- 細川真弓、石井智弘、鳴海覚志、天野直子、有安大典、長谷川奉延、高橋孝雄
- Conference Title
- [Conference Category Domestic presentation] Dates 2012.07.14 - 2012.07.14
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)
胎児骨系統疾患を疑った5例のまとめ
- Speaker
- 松川哲、小谷友美、真野由紀雄、津田弘之、炭竃誠二、中野知子、藤巻英彦、佐藤義朗、早川昌弘、早川博生、長谷川奉延
- Conference Title
- [Conference Category Domestic presentation] Dates 2012.07.09 - 2012.07.09
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Poster presentation
CYP11B2遺伝子変異を同定した日本人最初のアルドステロン合成酵素欠損症タイプ1の一例
- Speaker
- 中村明枝、石津桂、近藤英輔、青柳勇人、本間桂子、長谷川奉延、田島敏広
- Conference Title
- [Conference Category Domestic presentation] Dates 2012.07.07 - 2012.07.07
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)
Monogenic Disorders in 46, XY Disorders of Sex Development with Genital Anomalies: Comprehensive genetic study in Japan
- Speaker
- Mie Hayashi, Tomohiro Ishii , Fumiko Kato, Ayuko Suwanai, Masaki Takagi, Keiko Homma, Hiroshi Asanuma, Maki Fukami, Hirofumi Ohashi, Tomonobu Hasegawa
- Conference Title
- [Conference Category International presentation] Conference Title The Endocrine Society’s 94th Annual Meeting & Expo Dates 2012.06.25 - 2012.06.25
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
- Remarks
- 和訳：第94回全米内分泌学会
Identification and functional characterization of a novel NPR2 mutation (p.R388Q) causing acromesomellic dysplasia, type Maroteaux
- Speaker
- Naoko Amano, Hiroshi Kito, Satoshi Narumi, Rumi Hachiya , Yoshihiro Ogawa, Gen Nishimura, Tomonobu Hasegawa
- Conference Title
- [Conference Category International presentation] Conference Title The Endocrine Society’s 94th Annual Meeting & Expo（Venue Houston,TX,USA） Dates 2012.06.24 - 2012.06.24
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
- Remarks
- 和訳：第94回全米内分泌学会
Chemotype (urinary steroid concentration) - phenotype - genotype correlations in 53 Japanese patients with 21-hydroxylase deficiency
- Speaker
- Yuhei Koyama, Keiko Homma, Masayuki Miwa, Kazushige Ikeda, Mitsuru Murata, Tomonobu Hasegawa
- Conference Title
- [Conference Category International presentation] Conference Title The Endocrine Society’s 94th Annual Meeting & Expo Dates 2012.06.23 - 2012.06.23
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
- Remarks
- 和訳：第94回全米内分泌学会
A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein.
- Speaker
- Tomohiro Ishii, Toshikatsu Mitsui, Sadafumi Suzuki, Yumi Matsuzaki, Tomonobu Hasegawa
- Conference Title
- [Conference Category International presentation] Conference Title Adrenal 2012 / Conferenceon the adrenal cortex and Keith Parker Memorial Lecture（Venue League,TX,USA） Dates 2012.06.19 - 2012.06.19
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation