Published papers
Hasegawa, Tomonobu
361-380 items (total 510)
A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years.
- Author
- Ishii T, Matsuo N, Inokuchi M, Hasegawa T
- Publication Title
- Magazine name Hor Res Paediatr Start Page 388 - End Page 393 (Publication Date）2014）
- Authorship Category
- Joint Work
Urinary steroid profiling: A powerful method for the diagnosis of abnormal steroidogenesis.
- Author
- Koyama Y, Homma K, Hasegawa T
- Publication Title
- Magazine name Exp Rev Endocrinol Metab Start Page 273 - End Page 282 (Publication Date）2014）
- Authorship Category
- Joint Work
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.
- Author
- Asakura Y, Muroya K, Hanakawa J, Sato T, Aida N, Narumi S, Hasegawa T, Adachi M
- Publication Title
- Magazine name Clin Pediatr Endocrinol Start Page 27 - End Page 32 (Publication Date）2014）
- Authorship Category
- Joint Work
A novel KAL1 mutation is associated with combined pituitary hormone deficiency.
- Author
- Takagi M, Narumi S, Hamada R, Hasegawa Y, Hasegawa T
- Publication Title
- Magazine name Human Genome Variation Start Page 14011 (Publication Date）2014）
- Authorship Category
- Joint Work
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: A patient report and review of the literature.
- Author
- Adachi M, Muroya K, Asakura Y, Sugiyama K, Homma K, Hasegawa T
- Publication Title
- Magazine name Horm Res Paediatr Start Page 138 - End Page 142 (Publication Date）2014）
- Authorship Category
- 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.
- Author
- Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Chihara K, Iwamoto N, Seino Y
- Publication Title
- Magazine name Clin Pediatr Endocrinol Start Page 83 - End Page 92 (Publication Date）2014）
- Authorship Category
- 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.
- Author
- 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
- Publication Title
- Magazine name Orphanet J Rare Disease Start Page 125 (Publication Date）2014）
- Authorship Category
- Joint Work
Comprehensive Next Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations.
- Author
- Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T
- Publication Title
- Magazine name J Clin Endocrinol Metab Start Page E2421 - End Page E2428 (Publication Date）2014）
- Authorship Category
- 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.
- Author
- 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
- Publication Title
- Magazine name Hum Mutation Start Page 1092 - End Page 1100 (Publication Date）2014）
- Authorship Category
- Joint Work
Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants.
- Author
- Matsuo N, Ishii T, Takayama JI, Miwa M, Hasegawa T
- Publication Title
- Magazine name Endocrine J Start Page 849 - End Page 853 (Publication Date）2014）
- Authorship Category
- Joint Work
The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function.
- Author
- Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ
- Publication Title
- Magazine name Mol Endocrinol Start Page 1088 - End Page 1096 (Publication Date）2014）
- Authorship Category
- Joint Work
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
- Author
- 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
- Publication Title
- Magazine name Am J Med Genet A Start Page 2529 - End Page 2534 (Publication Date）2014）
- Authorship Category
- 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.
- Author
- Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, takagi M, Hasegawa T, Juppner H, Ozono K
- Publication Title
- Magazine name Eur J Pediatr Start Page 799 - End Page 804 (Publication Date）2014）
- Authorship Category
- 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.
- Author
- Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T
- Publication Title
- Magazine name Pituitary Start Page 569 - End Page 574 (Publication Date）2014）
- Authorship Category
- Joint Work
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
- Author
- Amano N, Mukai T, Iyo Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T
- Publication Title
- Magazine name J Clin Endocrinol Metab Start Page E713 - End Page F718 (Publication Date）2014）
- Authorship Category
- Joint Work
Trends in thin body stature among Japanese male adolescents, 2003 to 2012.
- Author
- Inokuchi M, Matsuo N, Takayama JI, Hasegawa T
- Publication Title
- Magazine name Ann Hum Biol Start Page 277 - End Page 281 (Publication Date）2014）
- Authorship Category
- Joint Work
Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study.
- Author
- 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
- Publication Title
- Magazine name Endocrine J Start Page 35 - End Page 40 (Publication Date）2014）
- Authorship Category
- Joint Work
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
- Author
- Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T
- Publication Title
- Magazine name Hor Res Paediatr Start Page 133 - End Page 138 (Publication Date）2014）
- Authorship Category
- Joint Work
Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis.
- Author
- Sato T, Muroya K, Hanakawa J, Asakura Y, Aida N, Tomiyasu M, Tajima G, Hasegawa T, Adachi M
- Publication Title
- Magazine name Pediatr International Start Page 112 - End Page 115 (Publication Date）2014）
- Authorship Category
- Joint Work
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1.
- Author
- Takagi M, Matsushita M, Nishimura G, Hasegawa T.
- Publication Title
- Magazine name Human Genome Variation Volume 1(Issue 14025) (Publication Date）2014）