Papers - Hasegawa, Tomonobu

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

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

Joint Work

Japanese founder duplication/triplications involving BHLHA) 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-i, 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 2014

Joint Work

Effect of growth hormone treatment on quality of life in Japanese children with growth horomone deficiency: An analysis from a prospective observational study.

Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Chihara K, Iwamoto N, Seino Y

Clin Pediatr Endocrinol 23   83 - 92 2014

Joint Work

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: A patient report and review of the literature.

Adachi M, Muroya K, Asakura Y, Sugiyama K, Homma K, Hasegawa T

Horm Res Paediatr 82   138 - 142 2014

Joint Work

A novel KAL1 mutation is associated with combined pituitary hormone deficiency.

Takagi M, Narumi S, Hamada R, Hasegawa Y, Hasegawa T

Human Genome Variation 1   14011 2014

Joint Work

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.

Asakura Y, Muroya K, Hanakawa J, Sato T, Aida N, Narumi S, Hasegawa T, Adachi M

Clin Pediatr Endocrinol 24   27 - 32 2014

Joint Work

Urinary steroid profiling: A powerful method for the diagnosis of abnormal steroidogenesis.

Koyama Y, Homma K, Hasegawa T

Exp Rev Endocrinol Metab 9   273 - 282 2014

Joint Work