論文 - 長谷川　奉延

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

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

共著

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

共著

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

共著

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

共著

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

共著

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

共著

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

共著

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

共著

A homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.

Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T

Endcrine J 60   855 - 859 2013年

共著

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, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T

PLos One 8   e60105 2013年

共著

A recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V with broad phenotypic spectrum.

Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishiura G, Hasegawa T

Am J Med Genet A 161A   1980 - 1982 2013年

共著

Novel compound heterozygous mutations of the growth horomone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

Soneda A, Adachi M, Muroya K, Asakura Y, Takagi M, Hasegawa T, Inoue H, Itakura M

GH IGF Res 23   89 - 97 2013年

共著

Association between Graves’ Disease and Renal Coloboma Syndrome: a case.

Sato T, Muroya K, Hanakawa J, Asakura Y, Takahashi E, Shiroyanagi Y, Yamazaki Y, Tanaka Y, Hasegawa T, Adachi M

Clin Pediatr Endocrinol 22   45 - 51 2013年

単著

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S-i, Watanabe K, Ogura T, Matsubara Y

Am J Hum Genet 93   173 - 180 2013年

共著

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.

Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T

Eur J Med Genet 56   526 - 528 2013年

共著

Heterozygous mutations in natriuretic peptide receptor-B gene (NPR2) as a cause of idiopathis short stature.

Vasques GA, Naoko A, Quedas EPS, Docko AJ, Funari MF, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AA

J Clin Endocrinol Metat 98   E1636 - 1644 2013年

共著

Characteristic testicular histology is useful for the identification of NR5A1 gene mutation in prepubertal 46,XY patients.

Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y

Hor Res Paediatr 80   119 - 128 2013年

共著

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1. Endocrine J 60:51-55,2013.

Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami T, Aoyagi H, Ishizu K, Tajima T

Endocrine J 60   51 - 55 2013年

共著