Presentations -
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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
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
第47回日本小児内分泌学会学術集会 (東京) ,
2013.10,Oral presentation (general)
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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
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
第47回日本小児内分泌学会学術集会 (東京) ,
2013.10,Poster presentation
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A 5-year-old boy with massive osteolysis and hypophospatemic rickets.
Sato T, Muroya K, Hanakawa J, Asakura Y, Tanaka Y, Fukuzawa R, Machida J, Nishimura G, Hasegawa T, Adachi M.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism: Pathway burden hypothesis
Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Oral presentation (general)
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Novel mutations in PAX6 cause congenital hypopituitarism with or without ocular malformation.
Takagi, M. Nagasaki K, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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Comprehensive genetic analyses of primary hypoparathyroidism using next-generation sequencing.
Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Iwasaki Y, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Oral presentation (general)
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A family of autosomal dominant hypocalcemia with sensorineural hearing impairment and low urine excretion of calcium.
Shibata H, Hori N, Yoshida M, Mitsui T, Narumi S, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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Baseline characteristics of GH-treated patients enrolled in the prospective genetics and neuroendocrinology of short stature international study (GeNeSIS): trends over time
Child CJ, Quigley CA, Zimmermann AG, Lebl J, Ross JL, Leger J, Hasegawa T, Blum WF.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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A 12-year-old girl with an aldosterone-producing adenoma having a somatic mutation of KCNJ5.
Uchida N, Amano N, Ishii T, Yamaoka Y, Uematsu A, Suzuki M, Watanabe J, Fukuzawa R, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Oral presentation (general)
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Heterozygous mutation in natriuretic peptide receptor-B gene as a cause of idiopathic short stature.
Vasques GA, Amano N, Jung A, Funari MFA, Quedas EPS, Arnhold I, Hasegawa T, Jorge AAL.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Oral presentation (general)
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Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Oral presentation (general)
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Biochemical diagnosis of classic 3-hydroxysteroid dehydrogenase deficiency in term newborns using urine metabolites of Δ5 steroids.
Homma K, Koyama Y, Takazawa A, Ishii T, Miwa M, Ikeda K, Shimizu N, Shibata A, Wakui M, Murata M, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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Comprehensive Genetic Analyses of Primary Adrenal Failure of Unknown Etiologies: Expanding Phenotypic Spectrum of NNT mutations.
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.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
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.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
Nishina N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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A preliminary report: from the database on growth hormone treatment in Japanese NordiPAD – GH effect on lipid metabolism.
Tajima T, Adachi M, Ozono K, Tanaka T, Hasegawa T, Horikawa R, Yokoya S.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan, Italy) ,
2013.09,Poster presentation
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Three cases of congenital central hypothyroidism in two families with TSH and prolactin deficiency caused by IGSF1 mutation.
Kitsuda K, Matsuura N, Abe K, Ohtsu S, Takubo N, Kazahari M, Shibayama K, Yokota Y, Narumi S, Hasegawa T.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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A study of iodine organization in transient hypothyroidism with biallelic DUOX2 mutations: organization defect is not an invariable feature.
Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A.
9th Joint Meeting of Paediatric Endocrinology ESPE – PES – APEG – APPES – ASPAE – JSPE – SLEP (Milan,Italy) ,
2013.09,Poster presentation
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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
HASEGAWA TOMONOBU
第10回信濃町小児診断・治療研究会 (慶應義塾大学病院 新教育研究棟 ２階講堂) ,
2013.09,Other
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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
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
第206回日本神経学会関東・甲信越地方会 (東京) ,
2013.09,Oral presentation (general)