研究発表 - 長谷川 奉延
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Genetic congenital hypothyroidism: who’s at risk?, and how do we identify them?
Narumi S, Amano N, Ishii T, Murota K, Asakura Y, Adachi M, Hasegawa T
Pediatric Academic Societies 2010 Annual Meeting,
2010年05月,口頭発表（招待・特別）
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Congenital hypothyroidism due to PAX8 mutations: Clinical and genetic features.
Narumi S, Muroya K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
International Symposium on Pediatric Endocrinology, official ICE 2010 Satellite Symposium （東京） ,
2010年03月,口頭発表（招待・特別）
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Snowstorm appearance on ultrasonography of diffuse sclerosing variant of papillary thyroid carcinoma in a six-year-old girl.
Amano N, Inokuchi M, Ishii T, Kameyama K, Miyabe R, Takami H, Hasegawa T
International Symposium on Pediatric Endocrinology, official ICE 2010 Satellite Symposium （東京） ,
2010年03月,ポスター発表
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Japanese brothers with gynecomastia associated with aromatase excess syndrome
Sano T, Ohyama K, Nakagomi Y, Nakagomi H, Kobayashi K, Kobayashi K, Saito T, Ohta M, Sato K, Yagasaki H, Mitsui Y, Nagamine K, Hasegawa T, Homma K, Fukami M
14th International Congress of Endocrinology （京都） ,
2010年03月,ポスター発表
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Discrimination P450 oxidoreductase deficiency from classical 21-hydroxylase deficiency in Japanese infants using urinary 11beta-hydroxyandrosterone by gas chromatography / mass spectrometry
Koyama Y, Homma K, Fukami M, Horikawa R, Miwa M, Ikeda K, Murata M, Ogata T, Hasegawa T
14th International Congress of Endocrinology （京都） ,
2010年03月,口頭発表（一般）
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H62L変異が同定された21水酸化酵素欠損症の1例
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
第138回日本小児科学会埼玉地方会 （埼玉） ,
2009年12月,口頭発表（一般）
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The p.L145F Mutation in the LRP5 Gene Responsible for Familial Exudative Vitreoretinopathy was Identified in a Patient with Osteoporosis-Pseudoglioma Syndrome
Watanabe Y, Yano S, Narumi S, Hasegawa T, Yoshino M, Matsuishi T
The American Society for Human Genetics The 59th Annual Meeting （USA） ,
2009年10月 -
Late Manifestations of Tricho-Rhino-Pharangeal syndrome: Expanded Skeletal Phenotype in Adulthood
Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE
The American Society for Human Genetics The 59th Annual Meeting （USA） ,
2009年10月 -
KDEL ER-retention signal is essential for prolyl 3-hydroxylase 1; a novel compound heterozygous mutations in LEPRE1 causes osteogenesis imperfect type III
Takagi M, Ishii T, Amano N, Nishimura G, Hasegawa T
LWPES/ESPE 8th Joint Meeting 2009.9.12 （ニューヨーク） ,
2009年09月,ポスター発表
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Genetic congenital hypothyroidism: who’s at risk?, and how do we identify them?
Narumi S, Murota K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,口頭発表（一般）
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Clinical variations of hypopituitarism exhibiting an invisible pituitary stalk by MRI
Mizuno H, Sugiyama Y, Imamine H, Hasegawa T, Takagi M, Togari H
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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A novel genetic diagnosis of glucocorticoid remediable aldosteronism
Hayashi M, Ishii T, Narumi S, Amano N, Kamimaki T, Sato S, Hasegawa T
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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Activity of fetal adrenal in Japanese preterm infants using steroid profile by gas chromatography / mass spectrometry
Homma K, Koyama Y, Miwa M, Hida M, Ikeda K, Murata M, Hasegawa T
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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Urinary free steroids in newborn infants with 21-hydroxylase deficiency using stable isotope dilution gas chromatography / mass spectrometry.
Koyama Y, Homma K, Miwa M, Ikeda K, Muroya K, Murata M, Hasegawa T
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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Osteosclerotic variant of osteogenesis imperfect with a mutant in the C-propeptide region of COL1A1 gene
Hori N, Nishimura G, Takagi M, Chinen Y, Kurosawa K, Tanaka Y, Oku K, Hasegawa T
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias
Ishii T, Hayashi M, Suwanai S, Takagi M, Narumi S, Amano N, Hasegawa T
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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Evaluation of sensitive detection methods for somatic mosaicism of GNAS1 mutation in patients with McCune-Albright syndrome.
Matsuo K, Suzuki S, Maimaiti M, Mukai T, Hamajima T, Motomura K, Naiki Y, Ogata T, Tajima T, Hasegawa T, Fujieda K
LWPES/ESPE 8th Joint Meeting （ニューヨーク） ,
2009年09月,ポスター発表
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Novel and de novo splicing mutation in the STAR gene in a male patient with nonclassic StAR deficiency: Mutant StAR lacking the N-terminal mitochondrial targeting signal may cause an autosomal dominant form of nonclassic StAR deficiency
Katsumata N, Hori N, Hasegawa T
The Endocrine Society’s 91th Annual Meeting,
2009年06月 -
A model of comprehensive care system by pediatric hospital for teenage children with anorexia nervosa in Japan
Watanabe H, Fukushima H, Esaki T, Tanaka T, Inokuchi M, Hasegawa T, Tokumura M, Takahashi T
The 9th International Eating Disorders Conference 2009,
2009年04月 -
Serum steroid profile in newborn: comparison between term and preterm infant by using liquid chromatography tandem mass spectrometry
Miwa M, Arimitsu T, Matsuzaki Y, Kurihara N, Hokuto I, Ikeda K, Hasegawa T
2nd Congress of European Academy of Pediatrics. （ニース） ,
2008年10月,ポスター発表