論文 - 長谷川　奉延

Comprehensive Next Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations.

Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T.

J Clin Endocrinol Metab 99   E2421 - E2428 2014年

Japanese founder duplication/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gallop-Wolfgang complex.

Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura N, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T.

Orphanet J Rare Disease 9   125 - 125 2014年

Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1.

Takagi M, Matsushita M, Nishimura G, Hasegawa T.

Human Genome Variation 1 （ 14025 ）  2014年

A novel mutation in SOX3 polyalanine tract: A case of Kabuki syndrome with combined pituitary hormone deficiency harboring bouble mutations in MLL2 and SOX3.

Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T

Pituitary 17   569 - 574 2014年

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IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.

Clin Endocrinol 80   706 - 713 2014年

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Steeper increases in body-mass index during childhood correlate with blood pressure elevation in adolescence: a long-term follow-up study in a Japanese community.

Kuwahara E, Asakura K, Nishiwaki Y, Komatsu H, Nakawaza A, Ushiku H, Maejima F, Nishigaki Y, Hasegawa T, Okamura T, Takebayashi T

Hypertension Res 37   179 - 184 2014年

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Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis.

Sato T, Muroya K, Hanakawa J, Asakura Y, Aida N, Tomiyasu M, Tajima G, Hasegawa T, Adachi M

Pediatr International 56   112 - 115 2014年

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A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T

Hor Res Paediatr 81   133 - 138 2014年

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Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study.

Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T

Endocrine J 61   35 - 40 2014年

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Trends in thin body stature among Japanese male adolescents, 2003 to 2012.

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T

Ann Hum Biol 41   277 - 281 2014年

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Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.

Amano N, Mukai T, Iyo Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T

J Clin Endocrinol Metab 99   E713 - F718 2014年

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日齢７に感染を契機に副腎不全が増悪したX連鎖性先天性副腎低形成症の1例

1. 谷口裕子、門田行史、英雅世、醍醐政樹、嶋岡鋼、梅﨑光、田中吾朗、沼崎啓、福田冬季子、山形崇倫、天野直子、長谷川奉延、桃井真里子、郡司勇治

小児科臨床 66   247 - 252 2013年

Congenital hypothyroidism caused by a novel mutation of the dual oxidase2 (DUOX2) gene.

Yoshizawa-Ogasawara A, Ogikubo S, Satoh M, Narumi S, Hasegawa T

J Pediatr Endor Met 26   45 - 52 2013年

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Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S-i, Morimura T, Ohno Y, Hoshina T, Ihara K, Takei H, Nittono H, Kurosawa T, Homma K, Hasegawa T, Matsuishi T

J Inherit Metab Dis 36   565 - 573 2013年

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A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.

Suwanai SA, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T

Clin Endocrinol 78   957 - 965 2013年

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Reference intervals of urinary free adrenal steroids in Japanese newborn infants using stable isotope dilution - gas chromatography / mass spectrometry.

Koyama Y, Homma K, Miwa M, Ikeda K, Murata M, Hasegawa T

Clin Chem Acta 415   302 - 305 2013年

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Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.

Kasahara T, Narumi S, Okasora K, Takaya R, Tamai H, Hasegawa T

Am J Med Genet A 161A   214 - 217 2013年

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Spousal choice by height in as urban middle-class Japanese

Uchida K, Matsuo N, Hori N, Hasegawa T, Takahashi T

Hum Biol 85   619 - 621 2013年

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Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing.

Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T

PLos One 8   e60525 2013年

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An observational study of the effectiveness and safety of growth hormone (HUmatrope) treatment in Japanese children with growth hormone deficiency or turner syndrome.

Tai S, Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Fujieda K, Chihara K, Seino Y

Endcr J 60   57 - 64 2013年

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