Papers - Hasegawa, Tomonobu

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

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

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, takagi M, Hasegawa T, Juppner H, Ozono K.

Eur J Pediatr 173   799 - 804 2014

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Mitsui T, Kim O-H, Hall C, Johnson D, Jin D-K, Toh T-H, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T. 

Am J Med Genet A 164A   2529 - 2534 2014

The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function.

Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ.

Mol Endocrinol 28   1088 - 1096 2014

Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.

Matsuo N, Ishii T, Takayama JI, Miwa M, Hasegawa T.

Endocrine J 61   849 - 853 2014

Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M.

Hum Mutation 35   1092 - 1100 2014

Deletions in the 3’ part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, de Silva DC, Hasegawa T, Koenig R, Krueger G, Petit F, Schanze I, Seemanova E, Vogt J, Strom TM, Meinecke P, Reis A, Hennekam RCM, Zenker M.

Hum Mutation 35   1092 - 1100 2014

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

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

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

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

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work