Keio University

Presentations

Hasegawa, Tomonobu

3781-3800 items (total 4334)

尿ステロイドプロフィルによる正期産新生児古典型3β-hydroxysteroid dehydrogenase欠損症の診断指標

Speaker
本間桂子、小山雄平、高澤啓、鹿島田健一、林美恵、石井智弘、三輪雅之、池田一成、清水長子、柴田綾子、上村知恵、涌井昌俊、村田満、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

初期に家族性腎性糖尿と診断されたMODY3の一例

Speaker
本田美紗、佐々木悟郎、塩谷真由美、堀川幸男、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

出生時に逡巡なく法律上の性を女性と決定された46,XY性分化疾患の分子遺伝学的および臨床的検討

Speaker
林美恵、石井智弘、鳴海覚志、天野直子、本間桂子、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

男性低ゴナドトロピン性性腺機能低下症の成人身長と精液検査に関するアンケート調査

Speaker
佐藤直子、田中敏章、長谷川奉延、長谷川行洋、雨宮伸、大薗恵一、菊池透、田中弘之、原田正平、宮田市郎、有阪治
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

CHD7遺伝子に変異を認めたKallmann症候群女児例

Speaker
濱田淳平、平井洋生、勢井友香、竹本幸司、岡澤朋子、三井俊賢、鳴海覚志、長谷川奉延、石井榮一
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

特異な下垂体形成異常・朝顔症候群を伴う複合型下垂体機能低下症におけるPROKR2ヘテロ接合性変異

Speaker
朝倉由美、花川純子、大戸佑二、室谷浩二、安達昌功、鳴海覚志、佐藤武志、高木優樹、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

4世代にわたる世界最大のPAX8変異陽性甲状腺機能低下症家系:甲状腺表現型の多様性

Speaker
佐々木孝子、阿部清美、鳴海覚志、長谷川奉延、西岡淳子、片山幸樹、八ッ賀秀一、古賀靖敏、久野健夫
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

TSHとPRLの欠損を伴ったIGSF1遺伝子異常による先天性中枢性甲状腺機能低下症の3症例

Speaker
橘田一輝、松浦信夫、阿部清美、大津成之、田久保憲行、柴山啓子、横田行史、鳴海覚志、長谷川奉延、石井正浩
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

IMAGe症候群およびシルバーラッセル症候群におけるCDKN1C変異解析とKvDMR1メチル化解析

Speaker
加藤芙弥子、濱島崇、天野直子、堀川玲子、澤田浩武、福家智子、佐野伸一朗、深見真紀、長谷川奉延、緒方勤
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

従来法vs次世代法:先天性甲状腺機能低下症における遺伝子診断アプローチの精度比較

Speaker
鳴海覚志、阿部清美、室谷浩二、朝倉由美、安達昌功、長谷川奉延。
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

Levothyroxine内服量の経時的変化からみたDUOX2遺伝子異常とTSHR遺伝子異常との相違

Speaker
木戸佑二、室谷浩二、阿部清美、飯島弘之、花川純子、朝倉由美、鳴海覚志、長谷川奉延、安達昌功
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.11 - 2013.10.11
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

橋本病母体より出生し、新生児マススクリーニングは正常判定であったDUOX2異常症の1例

Speaker
河口亜津彩、本庄紗帆、母坪智行、星野恵美子、黒岩由紀、布施茂登、森俊彦、横田美紀、阿部清美、鳴海覚志、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

新生児マススクリーニングで発見されなかった先天性甲状腺機能低下症の3例

Speaker
上村美季、鳴海覚志、梅木郁美、箱田明子、菅野潤子、長谷川奉延、藤原幾磨
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Poster presentation

臨床症状および生化学的評価で原因特定が困難な原発性副腎機能低下症における包括的遺伝子解析

Speaker
天野直子、林美恵、鳴海覚志、山田思郎、今井一秀、玉田泉、佐々木敦子、室谷浩二、木津りか、望月弘、谷口祐子、松浦宏樹、鈴木敦詞、小野敦史、高野洋子、石井智弘、本間桂子、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

尿ステロイド代謝物による非古典型を含む21水酸化酵素欠損症とP450還元酵素欠損症の生化学的鑑別診断

Speaker
小山雄平、本間桂子、深見真紀、三輪雅之、池田一成、緒方勤、村田満、長谷川奉延。
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

肥満診断における腹囲計測の意義―通院歴のある男児における検討―

Speaker
井ノ口美香子、松尾宣武、John I Takayama、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

遺伝性甲状腺ホルモン合成障害を初診時に予測できる:ROC解析によるカットオフ値の提唱

Speaker
阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、長崎啓祐、阿部貴行、長谷川奉延
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

日本人のNoonan症候群疾患特異的成長曲線の作成

Speaker
磯島豪、坂爪悟、長谷川奉延、緒方勤、中西敏雄、永井敏郎、横谷進
Conference Title
[Conference Category Domestic presentation] Dates 2013.10.10 - 2013.10.10
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
Oral presentation (general)

遺伝カウンセリングロールプレイ 骨形成不全症

Speaker
HASEGAWA TOMONOBU
Conference Title
[Conference Category Domestic presentation] Dates 2013.09 - 2013.09
Invitation Status
With
Presentation Format
Domestic presentation
Language of Publication
Japanese
Conference Category
招待講演

A 5-year-old boy with massive osteolysis and hypophospatemic rickets.

Speaker
Sato T, Muroya K, Hanakawa J, Asakura Y, Tanaka Y, Fukuzawa R, Machida J, Nishimura G, Hasegawa T, Adachi M.
Conference Title
[Conference Category International presentation] Conference Title 9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP(Venue Milan,Italy) Dates 2013.09.19 - 2013.09.19
Presentation Format
International presentation
Language of Publication
English
Conference Category
Poster presentation