原著2019年

Suzuki A, Ishii J, Kimura T, Tateyama M, Tanaka T, Yazawa T, Arimasu Y, Chen IS, Aoyama K, Kubo Y, Saitoh S, Mizuno H, Kamma H. Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. Commun Biol. 24;2:270;2019
Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S. Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease. PLoS ONE. 2019 14(8),e0221482
Nakamura Y, Yusuke Okuno, Hideki Muramatsu, Tomoko Kawai, Kazuhito Satou, Daisuke Ieda, Ikumi Hori, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshiyuki Takahashi, Seiji Kojima & Shinji Saitoh. A novel CUL4B splice site variant in a young male exhibiting less pronounced features. Hum Genome Var. 2019 6(1),43
Nakashima M, Negishi Y,  Hori I,  Hattori A, Saitoh S, Saitsu H. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. Am J Med Genet A. 179(4):645-649; 2019
Ieda D, Hori I,  Nakamura Y, Ohashi K, Negishi Y, Hattori A, Arisaka A, Hasegawa S, Saitoh S. A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome. Hum Genome Var. 25;6:15:2019
Takuya Hiraide  , Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu. De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences. Epilepsia Open. 4(3):476-481, 2019
Atsuko Kori,  Ikumi Hori, Tatsushi Tanaka, Kohei Aoyama, Koichi Ito, Ayako Hattori, Kyoko Ban, Yasushi Okazaki, Kei Murayama, Shinji Saitoh. Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C. Brain Dev. 41(9):803-807: 2019
Ikumi Hori, Takeshi Tsuji, Misa Miyake, Kazuto Ueda, Erina Kataoka, Michio Suzuki, Satoru Kobayashi,Hirokazu Kurahashi,Yoshiyuki Takahashi, Akihisa kumura,Tetsushi Yoshikawa, Shinji Saitoh, Jun Natsume. Delayed recognition of childhood arterial ischemic stroke. Pediatr Int. 61(9):895-903:2019
Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. J Med Genet. 56(6):388-395;2019.
Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M. Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. Clin Epigenetics. 11(1):36; 2019
Hashimoto A, Kuki I, Fukuoka M, Kim K, Inoue T, Nukui M, Okazaki S, Kawawaki H, Nakamura Y, Saitoh S. Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.  Brain Dev. 41:625-629; 2019
Tsuda K, Iwata S, Mukai T, Shibasaki J, Takeuchi A, Ioroi T, Sano H, Yutaka N, Takahashi A, Takenouchi T, Osaga S, Tokuhisa T, Takashima S, Sobajima H, Tamura M, Hosono S, Nabetani M, Iwata O. Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants. Ther Hypothermia Temp Manag.. Mar;9(1):76-85
Iwata S, Kinoshita M, Okamura H, Tsuda K, Saikusa M, Harada E, Saitoh S, Iwata O. Intrauterine growth and the maturation process of adrenal function. PeerJ. 2019 Feb 7;7:e6368
Harada E, Kinoshita M, Iwata S, Saikusa M, Tsuda K, Shindou R, Sahashi T, Kato S, Yamada Y, Saitoh S, Iwata O. Visual function scale for identification of infants with low respiratory compliance. Pediatr Neonatol.. 2019 Mar 2. pii: S1875-9572(18)30607-7
Shibasaki J, Mukai T, Tsuda K, Takeuchi A, Ioroi T, Sano H, Yutaka N, Takahashi A, Sobajima H, Tamura M, Hosono S, Nabetani M, Iwata O. Outcomes related to 10-min Apgar scores of zero in Japan. Arch Dis Child Fetal Neonatal Ed.. 2019 May 15. pii: fetalneonatal-2019-316793
Yokoi K, Iwata O, Kobayashi S, Muramatsu K, Goto H. Influence of foetal inflammation on the development of meconium aspiration syndrome in term neonates with meconium-stained amniotic fluid. PeerJ. 2019 May 31;7:e7049
Iwata S, Kinoshita M, Fujita F, Tsuda K, Unno M, Horinouchi T, Morokuma S, Saitoh S, Iwata O. Peripartum depression and infant care, sleep and growth. Sci Rep. . 2019 Jul 15;9(1):10186.
Negishi Y, Negishi Y, Ieda D, Hori I, Nozaki Y, Yamagata T, Komaki H, Tohyama J, Nagasaki K, Tada H, Saitoh S.  Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.  Orphanet J Rare Dis. 2019 Dec 2;14(1):277.
Miwa S, Miwa S., Kamei M., Yoshida S., et al. Local dissemination of osteosarcoma observed after massage therapy: a case report.   BMC Cancer.  19: 993; 2019
亀井 美智, 岩田, 宏満; 高木, 大輔 小児悪性腫瘍の放射線治療における被ばく低減術の全国調査結果と今後の展望.  京都府立医科大学雑誌. 128: 907, 2019
佐々木 良平 , 出水 祐介, 岩田 宏満, 亀井 美智, 文野 誠久, 赤坂 浩亮, 王 天縁, 妹尾 悟史, 犬伏 祥子, 宮脇 大輔, 吉田 賢史, 小松 昇平, 福本 巧.  放射線治療 QOLを考慮した局所治療 小児がんに対する吸収性スペーサー留置を併用した粒子線治療.  日本小児血液・がん学会雑誌. 56(2): 148-152; 2019
Miwa S., Kamei M., Yoshida S., Yamada S., Aiba H., Tsuchiya H.,Otsuka T. Local dissemination of osteosarcoma observed after massage therapy: a case report. BMC Cancer . 19(1): 993-998
郡 温子, 岩淵 英人, 亀井 美智, 武田 理沙, 吉田 悟, 中野 さつき, 山口 直哉, 鈴木 敦詞, 田中 達之, 青山 幸平, 高木 大輔, 近藤 知史, 山下 依子,齋藤 伸治  思春期早発症を契機に診断された副腎皮質癌の一例.日本小児血液・がん学会雑誌. 56 (2): 247-248

[記事公開日]2020/07/07
[最終更新日]2020/07/23