論文 - 長谷川　奉延

Discordant fetal phenotype of hypophosphatasia in two siblings.

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M.

Am J Med Genet A  176   171-174 2017年

研究論文（学術雑誌）, 共著, 査読有り

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activir: Correlation between clinical phenotypes and enzymatic activity.

Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.

Endocr J  64   1087-1097 2017年

研究論文（学術雑誌）, 共著, 査読有り

Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.

Kizu R, Nishimura K, Sato R, Kosaki K, Tanaka T, Tanigawara Y, Hasegawa T.

Hor Res Peadiatr 88   316-323 2017年

研究論文（学術雑誌）, 共著, 査読有り

Incidence of diabetes mellitus and neoplasia in Japanese short-statured children treated with growth hormonr in the Genetics and neuroendocrinology of short stature international study (GeNeSIS)

Yokoya S, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Tanaka T, Chihara K, Jia N, Child CJ, Ihara K, Funai J, Iwamoto N, Seino Y.

Clin Pediatr Endocrinol  26   229-241 2017年

研究論文（学術雑誌）, 共著, 査読有り

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H.

Eur J Med Genet  60   635-638 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone-producing adenoma.

Uchida N, Amano N, Yamaoka Y, Uematsu A, Sekine Y, Suzuki M, Watanabe J, Nishimoto K, Mukai K, Fukuzawa R, Hasegawa T, Ishii T.

J Endocrine Society  1   1056-1061 2017年

研究論文（学術雑誌）, 共著, 査読有り

Genetic defects in pediatric-onset adrenal insufficiency in Japan.

Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, Hachiya R, Sasaki G, Homma K, Ishii T, Hasegawa T.

Eur J Endocrinol 177   187-194 2017年

研究論文（学術雑誌）, 共著, 査読有り

The response to growth hormone treatment in prepubertal children with growth hormone deficiency in Japan: Comparing three consecutive years of treatment data of The Foundation for Growth Science in Japan between the 1990s and 2000s.

Isojima T, Hasegawa T, Yokoya S, Tanaka T.

Endor J  30   851-858 2017年

研究論文（学術雑誌）, 共著, 査読有り

Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.

Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S.

Endocr J  64   807-812 2017年

研究論文（学術雑誌）, 共著, 査読有り

Clinical practice guideline for congenital hyperinsulinism.

Yorifuji T, Horikawa R, Hasegawa T, Adachi M, Soneda S, Minagawa M, Ida S, Yonekura T, Kinoshita Y, Kanamori Y, Kitagawa M, Shinakai M, Sasaki H, Nio M.

Clin Pediatr Endocrinol 26   127-152 2017年

研究論文（学術雑誌）, 共著, 査読有り

Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome.

Isojima T, Sakazume S, Hasegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S.

Clin Pediatr Endocrinol  26   153-164 2017年

研究論文（学術雑誌）, 共著, 査読有り

Three-quarters adrenalectomy for infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome.

Itonaga T, Goto H, Toujigamori M, Ohno Y, Korematsu S, TIzumi T, Narumi S, Hasegawa T, Ihara K.

Hor Res Paediatr  88   285-290 2017年

研究論文（学術雑誌）, 共著, 査読有り

yndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.

Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.

Hum Genome Var 4   17012 2017年

研究論文（学術雑誌）, 共著, 査読有り

Shimada H. Severe hypertriglyceridemia during treatment of acute lymphoblastic leukemia associated with type III hyperlipoproteinemia

Yamada Y, Shima H, Shibata H, Ishii T, Hasegawa T,

Pediatr Blood Cancer 64 （ 11 ）  2017年

研究論文（学術雑誌）, 共著, 査読有り

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.

Ohtaka K, Fujisawa Y, Takada F, Seo M, Kameda H, Hasegawa Y, Hasegawa T, Fukami M, Ogata T.

Hum Mutation 38   503-506 2017年

研究論文（学術雑誌）, 共著, 査読有り

Histological Change of Autoimmune Hepatitis with Graves’ disease; a child case report.

Yamada M, Shibata H, Masugi Y, Ishii T, Kameyama K, Ebinuma H, Hasegawa T.

Inter Med 56   2139-2143 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia cogenita.

Kusano C, Takagi M, Hori N, Murotsuki J, Nishimura G, Hasegawa T.

Hum Genome Var 4   17003 2017年

研究論文（学術雑誌）, 共著, 査読有り

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

Takagi M, Dobashi K, Nagahara K, Kato M, Nishimura G, Fukuzawa R, Narumi S, Hasegawa T.

Am J Med Genet A 173   1071-1076 2017年

研究論文（学術雑誌）, 共著, 査読有り

Whole exome sequencing identified a novel COL2A1 mutation that causes mild spondylo-epiphyseal dysplasia mimicking autosomal dominat bracholmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Genet 170 （ 3 ） 795 - 798 2016年03月

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline.

Yanase T, Tajima T, Katabami T, Iwasaki Y, Tanahashi Y, Sugawara A, Hasegawa T, Mune T, Oki Y, Nakagawa Y, Miyamura N, Shimizu C, Otsuki M, Nomura M, Akehi Y, Tanabe M, Kasayama S.

Endorine J 30   765 - 784 2016年

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