論文 - 長谷川　奉延

未治療成人17α水酸化酵素欠損症患者の遺伝的、内分泌学的解析

201. 植田洋平、渡邊知一、臼井健、垣田真似子、中谷理恵子、中尾佳奈子、難波多拳、立木美香、田上哲也、成瀬光栄、金子恵一、本間桂子、長谷川奉延、島津章

日本内分泌学会雑誌 90 （ Suppl ） 72 - 74 2014年

周産期医療にかかわる全ての医師に御理解頂きたい新生児外陰部診察のコツ

長谷川奉延

日本周産期・新生児医学会雑誌 50   1198 - 1199 2014年

周産期医療にかかわる全ての医師に御理解頂きたい新生児外陰部診察のコツ

長谷川奉延

日本周産期・新生児医学会雑誌 50   1198 - 1199 2014年

遺伝子と性差

室谷浩二、長谷川奉延

日本臨床 73 686-692,2014 73   686 - 692 2014年

性分化疾患の基礎と臨床

長谷川奉延

日本生殖内分泌学会雑誌 19   5 - 9 2014年

IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.

tKato 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年

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年

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 Int 56   112 - 115 2014年

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年

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年

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年

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年

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年

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年

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年

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年

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年

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年

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年

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年