Presentations
Hasegawa, Tomonobu
3801-3820 items (total 4334)
A study of iodine organization in transient hypothyroidism with biallelic DUOX2 mutations: organization defect is not an invariable feature.
- Speaker
- Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A.
- 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
Three cases of congenital central hypothyroidism in two families with TSH and prolactin deficiency caused by IGSF1 mutation.
- Speaker
- Kitsuda K, Matsuura N, Abe K, Ohtsu S, Takubo N, Kazahari M, Shibayama K, Yokota Y, Narumi S, Hasegawa T.
- 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
A preliminary report: from the database on growth hormone treatment in Japanese NordiPAD – GH effect on lipid metabolism.
- Speaker
- Tajima T, Adachi M, Ozono K, Tanaka T, Hasegawa T, Horikawa R, Yokoya S.
- 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
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
- Speaker
- Nishina N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y.
- 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
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
- Speaker
- Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T.
- 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
Comprehensive Genetic Analyses of Primary Adrenal Failure of Unknown Etiologies: Expanding Phenotypic Spectrum of NNT mutations.
- Speaker
- Amano N, Hayashi M, Narumi S, Yamada S, Imai K, Tamada I, Sasaki A, Muroya K, Kizu R, Mochizuki H, Taniguchi Y, Matsuura H, Homma K, Hasegawa T.
- 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
Biochemical diagnosis of classic 3-hydroxysteroid dehydrogenase deficiency in term newborns using urine metabolites of Δ5 steroids.
- Speaker
- Homma K, Koyama Y, Takazawa A, Ishii T, Miwa M, Ikeda K, Shimizu N, Shibata A, Wakui M, Murata M, Hasegawa T.
- 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
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
- Speaker
- Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T.
- Conference Title
- [Conference Category Domestic 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
- Domestic presentation
- Language of Publication
- English
- Conference Category
- Oral presentation (general)
Heterozygous mutation in natriuretic peptide receptor-B gene as a cause of idiopathic short stature.
- Speaker
- Vasques GA, Amano N, Jung A, Funari MFA, Quedas EPS, Arnhold I, Hasegawa T, Jorge AAL.
- 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
- Oral presentation (general)
A 12-year-old girl with an aldosterone-producing adenoma having a somatic mutation of KCNJ5.
- Speaker
- Uchida N, Amano N, Ishii T, Yamaoka Y, Uematsu A, Suzuki M, Watanabe J, Fukuzawa R, Hasegawa T.
- 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
- Oral presentation (general)
Baseline characteristics of GH-treated patients enrolled in the prospective genetics and neuroendocrinology of short stature international study (GeNeSIS): trends over time
- Speaker
- Child CJ, Quigley CA, Zimmermann AG, Lebl J, Ross JL, Leger J, Hasegawa T, Blum WF.
- Conference Title
- [Conference Category International presentation] Conference Title 9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP Dates 2013.09.19 - 2013.09.19
- Presentation Format
- International presentation
- Language of Publication
- English
- Conference Category
- Poster presentation
A family of autosomal dominant hypocalcemia with sensorineural hearing impairment and low urine excretion of calcium.
- Speaker
- Shibata H, Hori N, Yoshida M, Mitsui T, Narumi S, Hasegawa T.
- 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
Comprehensive genetic analyses of primary hypoparathyroidism using next-generation sequencing.
- Speaker
- Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Iwasaki Y, Hasegawa T.
- 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
- Oral presentation (general)
Novel mutations in PAX6 cause congenital hypopituitarism with or without ocular malformation.
- Speaker
- Takagi, M. Nagasaki K, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.
- 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
Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism: Pathway burden hypothesis
- Speaker
- Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T.
- 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
- Oral presentation (general)
すべての小児科医が知っているときっと明日から役立つ性分化疾患診療のベストクオリティ
- Speaker
- HASEGAWA TOMONOBU
- Conference Title
- [Conference Category Domestic presentation] Dates 2013.09.10 - 2013.09.10
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- 特別講演
成人になって亜急性に重篤な神経症状を呈したフェニルケトン尿症の48歳女性例
- Speaker
- 滝沢翼、関守信、鈴木重明、清水利彦、柴田浩憲、石井智弘、長谷川奉延、鈴木則宏
- Conference Title
- [Conference Category Domestic presentation] Dates 2013.09.07 - 2013.09.07
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)
Novel mitochondrial point mutation (m.9155A>G) in two patients with chronic renal failure caused by focal glomerular sclerosis
- Speaker
- Takeshita E,Mimaki M, Ishii T, Awazu M, Shinjoh M, Hasegawa T, Miki J, Hidaka Y, Motobayashi M, Kumagai E, Goto Y
- Conference Title
- Conference Title International Congress of Pediatrics Dates 2013.08.24 - 2013.08.24
- Language of Publication
- English
次世代シーケンシングで内分泌を切り拓く
- Speaker
- 鳴海覚志、長谷川奉延
- Conference Title
- [Conference Category Domestic presentation] Dates 2013.07.11 - 2013.07.11
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)
IMAGe症候群表現型およびシルバーラッセル症候群における第11番染色体インプリンティングドメインICR2(KvDMR1-CDKN1C領域)の解析
- 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 2013.07.06 - 2013.07.06
- Presentation Format
- Domestic presentation
- Language of Publication
- Japanese
- Conference Category
- Oral presentation (general)