診療科・局・施設のご案内

臨床研究所

2019年 発表論文

Tamura S, Satake T, Muto M, Shibuya M, Narui K, Kobayashi S(形成外科), Ishikawa T, Maegawa J. Immediate Breast Reconstruction with a Deep Inferior Epigastric Perforator Flap in the Lithotomy Position. Plast Reconstr Surg Glob Open. 2019;7:e2552.
Uchida K, Shimizu H, Nagafuchi H(救急集中治療科), Yamamoto A(神経内科), Ono S(循環器内科). Severe cardiac dysfunction induced by thiopental sodium. Pediatr Int. 2019;61:1270-1272.
Keino D, Yokosuka T, Iwasaki F, Hamanoue S, Goto H(血液腫瘍科). Myelodysplastic syndrome following a Fontan procedure: A case report. Pediatr Int. 2019;61:1268-1270.
Kusakawa M, Sato T, Hosoda A, Araki E, Matsuzaki Y, Yamashita Y, Ishihara J, Inagaki Y(新生児科), Uchida N, Ishii T, Hasegawa T. A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation. Hum Genome Var. 2019;6:55
Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M(神経内科), Enomoto Y(臨床研究所), Murakami H, Kurosawa K(遺伝科), Miyatake S, Matsumoto N, Goto T(神経内科). Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. Epilepsy Behav Rep. 2019;13:100349.
Miyamura T, Kudo K, Tabuchi K, Ishida H, Tomizawa D, Adachi S, Goto H(血液腫瘍科), Yoshida N, Inoue M, Koh K, Sasahara Y, Fujita N, Kakuda H, Noguchi M, Hiwatari M, Hashii Y, Kato K, Atsuta Y, Okamoto Y. Hematopoietic stem cell transplantation for pediatric acute myeloid leukemia patients with KMT2A rearrangement; A nationwide retrospective analysis in Japan. Leuk Res. 2019;87:106263.
Hijiya N, Maschan A, Rizzari C, Shimada H, Dufour C, Goto H(血液腫瘍科), Kang HJ, Guinipero T, Karakas Z, Bautista F, Ducassou S, Yoo KH, Zwaan CM, Millot F, Aimone P, Allepuz A, Quenet S, Hourcade-Potelleret F, Hertle S, Sosothikul D. Phase 2 study of nilotinib in pediatric patients with Philadelphia chromosome-positive chronic myeloid leukemia. Blood. 2019;134:2036-2045.
Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M(内分泌代謝科), Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. J Clin Endocrinol Metab. 2019;104:6229-6237.
Toyoshima K(新生児科), Isayama T, Kobayashi T, Su C, Mikami M, Yokoyama T, Iwami H, Nagasawa H, Kawasaki H, Amari S, Nakayama A, Ikeda T, Okada N, Yamamoto Y, Masutani S; Patent ductus arteriosus, Left Atrial Size Evaluation in preterm infants (PLASE) study group investigators. What echocardiographic indices are predictive of patent ductus arteriosus surgical closure in early preterm infants? A prospective multicenter cohort study. J Cardiol. 2019;74:512-518.
Kubota M, Osuga Y, Kato K, Ishikura K, Kaneko K, Akazawa K, Yonekura T, Tazuke Y, Ieiri S, Fujino A, Ueno S, Hayashi Y, Yoshino K, Yanai T, Iwai J, Yamaguchi T, Amae S, Yamazaki Y(泌尿器科), Sugita Y, Kohno M, Kanamori Y, Bitoh Y, Shinkai M, Ohno Y, Kinoshita Y. Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients. Surg Today. 2019;49:985-1002.
Nagafuchi H(救急集中治療科), Eguchi Y, Ikeda T. Impact of Antithrombin Supplementation and Concomitant Anticoagulation Therapy in Pediatric Patients With Disseminated Intravascular Coagulation. Clin Appl Thromb Hemost. 2019;25:1076029619834350.
Kitagawa Y, Kim KS(循環器内科), Kawataki M(新生児科), Ono S, Yanagi S, Ueda H(循環器内科). Fetal case of right atrial isomerism with infracardiac total anomalous pulmonary venous connection and agenesis of the ductus venosus. J Obstet Gynaecol Res. 2019;45:2275-2279.
Hayashi C, Kumano Y(泌尿器科), Hirokawa D, Sato H(脳神経外科), Yamazaki Y(泌尿器科). Long-term urological outcomes of spinal lipoma after prophylactic untethering in infancy: real-world outcomes by lipoma anatomy. Spinal Cord. 2019 Nov 26. doi:10.1038/s41393-019-0385-y.
Yasuhara J, Kuno T, Taki M, Toda K, Kumamoto T, Kojima T, Shimizu H(救急集中治療科), Yoshiba S, Kobayashi T, Sumitomo N. Predictors of Early Postoperative Supraventricular Tachyarrhythmias in Children After the Fontan Procedure. Int Heart J. 2019;60:1358-1365.
Kimura S, Seki M, Kawai T, Goto H(血液腫瘍科), Yoshida K, Isobe T, Sekiguchi M, Watanabe K, Kubota Y, Nannya Y, Ueno H, Shiozawa Y, Suzuki H, Shiraishi Y, Ohki K, Kato M, Koh K, Kobayashi R, Deguchi T, Hashii Y, Imamura T, Sato A, Kiyokawa N, Manabe A, Sanada M, Mansour MR, Ohara A, Horibe K, Kobayashi M, Oka A, Hayashi Y, Miyano S, Hata K, Ogawa S, Takita J. DNA methylation-based classification reveals difference between pediatric T-cell acute lymphoblastic leukemia and normal thymocytes. Leukemia. 2019 Nov 15. doi: 10.1038/s41375-019-0626-2.
Yamasaki K, Kiyotani C, Terashima K, Watanabe Y, Kanamori M, Koga Y, Hata N, Iwasaki F(血液腫瘍科), Goto H, Koh K, Kurihara J, Tokunaga S, Arakawa Y, Hasegawa D, Kosaka Y, Hara J. Clinical characteristics, treatment, and survival outcome in pediatric patients with atypical teratoid/rhabdoid tumors: a retrospective study by the Japan Children's Cancer Group. J Neurosurg Pediatr. 2019:1-10.
Yokoi T(遺伝科), Sei K(神経内科), Enomoto Y(臨床研究所), Naruto T, Kurosawa K(遺伝科). Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy. Pediatr Int. 2019;61:1169-1171.
Takeuchi M, Kobayashi T, Biss T, Kamali F, Vear SI, Ho RH, Bajolle F, Loriot MA, Shaw K, Carleton BC, Hamberg AK, Wadelius M, Hirono K, Taguchi M, Wakamiya T(循環器内科), Yanagimachi M, Hirai K, Itoh K, Brandão LR, Ito S. CYP2C9, VKORC1, and CYP4F2 polymorphisms and pediatric warfarin maintenance dose: a systematic review and meta-analysis. Pharmacogenomics J. 2019 Nov 1. doi: 10.1038/s41397-019-0117-x.
Hiraide T, Kaba Yasui H(神経内科), Kato M, Nakashima M, Saitsu H. A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly. J Hum Genet. 2019;64:1127-1132.
Kitagawa Y, Kim KS(循環器内科), Kawataki M(新生児科), Ono S, Yanagi S, Ueda H(循環器内科). Fetal case of right atrial isomerism with infracardiac total anomalous pulmonary venous connection and agenesis of the ductus venosus. J Obstet Gynaecol Res. 2019;45:2275-2279.
Kobayashi S(形成外科), Hirakawa T, Sasaki Y(歯科), Fukawa T, Maegawa J. Orthodontic premaxillary setback versus premaxillary osteotomy with gingivoperiosteoplasty for Bilateral cleft lip and palate patients: 4-year observation outcomes. J Plast Reconstr Aesthet Surg. 2019;72:1813-1818.
Tsurusaki Y(臨床研究所), Kuroda Y(遺伝科), Yamanouchi Y, Kondo E, Ouchi K, Kimura Y, Enomoto Y(臨床研究所), Aida N(放射線科, Masuno M, Kurosawa K(遺伝科). Novel USP9X variants in two patients with X-linked intellectual disability. Hum Genome Var. 2019;6:49.
Ichikawa K, Tsuyusaki Y, Shimbo H, Goto T(神経内科). Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene. Pediatr Int. 2019;61:1055-1056.
Nishimura N, Murakami H(遺伝科), Saito T(臨床研究所), Masuno M, Kurosawa K(遺伝科). Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73. Congenit Anom (Kyoto). 2019 Oct 9. doi:10.1111/cga.12356.
Kondo E, Ikeda T, Goto H(血液腫瘍科), Nishikori M, Maeda N, Matsumoto K, Kitagawa H, Noda N, Sugimoto S, Hara J. Pharmacokinetics of thiotepa in high-dose regimens for autologous hematopoietic stem cell transplant in Japanese patients with pediatric tumors or adult lymphoma. Cancer Chemother Pharmacol. 2019;84:849-860.
Kawaguchi A, Kunimoto K, Inaba Y, Mikita N, Kaminaka C, Kanazawa N, Yamamoto Y, Kakimoto N, Suenaga T, Takeuchi T, Suzuki H, Baba N(皮膚科), Jinnin M. Distribution analysis of infantile hemangioma or capillary malformation on the head and face in Japanese patients. J Dermatol. 2019;46:849-852.
Seki E, Enomoto K(遺伝科), Tanoue K(総合診療科), Tanaka M(病理診断科), Kurosawa K(遺伝科). Tracheal cartilaginous sleeve in patients with Beare-Stevenson syndrome. Congenit Anom (Kyoto). 2019 Aug 1. doi: 10.1111/cga.12352.
Hyakuna N, Hashii Y, Ishida H, Umeda K, Takahashi Y, Nagasawa M, Yabe H, Nakazawa Y, Koh K, Goto H(血液腫瘍科), Fujisaki H, Matsumoto K, Kakuda H, Yano M, Tawa A, Tomizawa D, Taga T, Adachi S, Kato K. Retrospective analysis of children with high-risk acute myeloid leukemia who underwent allogeneic hematopoietic stem cell transplantation following complete remission with initial induction chemotherapy in the AML-05 clinical trial. Pediatr Blood Cancer. 2019;66:e27875.
Hori D, Kobayashi R, Fujita N, Suzumiya J, Suzuki R, Kato K, Kawata T, Fukuda T, Inoue M, Goto H(血液腫瘍科), Hama A, Iwato K, Okumura H, Eto T, Hashii Y, Atsuta Y, Mitsui T. The effectiveness of busulfan-based conditioning regimens for stem cell transplantation against lymphomas in children, adolescents, and young adults in Japan. Pediatr Blood Cancer. 2019;66:e27918.
Tomotaki S, Toyoshima K, Shimokaze T(新生児科), Kawai M. Reliability of real-time continuous glucose monitoring in infants. Pediatr Int. 2019;61:1001-1006.
Nozawa K, Niwa T, Aida N(放射線科). Imaging of Cystic Lung Lesions in Infants Using Pointwise Encoding Time Reduction with Radial Acquisition (PETRA). Magn Reson Med Sci. 2019;18:299-300.
Shimizu A, Tanaka K, Takazawa S, Nishi A, Shimoyama S, Kobayashi T, Imagawa T(感染免疫科), Hirato J, Yamada Y. A large superior mesenteric artery aneurysm and ileal obstruction: a rare presentation of polyarteritis nodosa in an infant. Oxf Med Case Reports. 2019;2019:omz092.
Onakatomi Y, Asou T, Takeda Y(心臓血管外科), Ueda H(循環器内科), Goda M, Masuda M. Aortic erosion occurring in over 5 years after Amplatzer septal Occluder implantation for secundum atrial septal defect: a case report. J Cardiothorac Surg. 2019;14:159.
Watanabe A Inukai T, Kagami K, Abe M, Takagi M, Fukushima T, Fukushima H, Nanmoku T, Terui K, Ito T, Toki T, Ito E, Fujimura J, Goto H(血液腫瘍科), Endo M, Look T, Kamps M, Minegishi M, Takita J, Inaba T, Takahashi H, Ohara A, Harama D, Shinohara T, Somazu S, Oshiro H, Akahane K, Goi K, Sugita K. Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019;8:5274-5288.
Taguchi I, Yamada T, Akaishi R, Imoto I, Kurosawa K(遺伝科), Nakatani K, Nomura F, Hamanoue H, Hyodo M, Murakami H, Yoshihashi H, Yotsumoto J, Kosugi S. Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan. J Hum Genet. 2019;64:945-954.
Ogushi K, Muroya K(内分泌代謝科), Shima H, Jinno T, Miyado M, Fukami M. SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. Am J Med Genet A. 2019;179:1778-1782.
Sugiyama M, Hamanoue S(血液腫瘍科), Nagai JI, Tsurusaki Y(臨床研究所), Kurosawa K(遺伝科), Tanaka M, Tanaka Y(病理診断科), Goto H(血液腫瘍科). Hemoglobin beta Kanagawa [c.443A > C p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia. Pediatr Blood Cancer. 2019;66:e27871.
Okamoto Y, Kudo K, Tabuchi K, Tomizawa D, Taga T, Goto H(血液腫瘍科), Yabe H, Nakazawa Y, Koh K, Ikegame K, Yoshida N, Uchida N, Watanabe K, Koga Y, Inoue M, Kato K, Atsuta Y, Ishida H. Hematopoietic stem-cell transplantation in children with refractory acute myeloid leukemia. Bone Marrow Transplant. 2019;54:1489-1498.
Ohashi I(遺伝科), Enomoto Y, Naruto T, Tsurusaki Y(臨床研究所), Kuroda Y(遺伝科), Ishikawa H(産婦人科), Ohyama M(新生児科), Aida N(放射線科), Nishimura G, Kurosawa K(遺伝科). A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2. Hum Genome Var. 2019;6:40.
Tominaga M(遺伝科), Hamanoue S, Goto H(血液腫瘍科), Saito T, Nagai JI(臨床研究所), Masuno M, Umeda Y, Kurosawa K(遺伝科). Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5. Hum Genome Var. 2019;6:36.
Miyoshi T, Maeno Y, Hamasaki T, Inamura N, Yasukochi S, Kawataki M, Horigome H, Yoda H, Taketazu M, Nii M, Hagiwara A(母性内科), Kato H, Shimizu W, Shiraishi I, Sakaguchi H, Ueda K, Katsuragi S, Yamamoto H, Sago H, Ikeda T; Japan Fetal Arrhythmia Group. Antenatal Therapy for Fetal Supraventricular Tachyarrhythmias: Multicenter Trial. J Am Coll Cardiol. 2019;74:874-885.
Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K(遺伝科), Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Mol Genet Genomic Med. 2019;7:e814.
Kamikado Y, Mihara T, Ka K(麻酔科). Anesthetic management of a pediatric patient with Loeys-Dietz syndrome: A case report. Paediatr Anaesth. 2019;29:875-877.
Hangai M, Urayama KY, Tanaka J, Kato K, Nishiwaki S, Koh K, Noguchi M, Kato K, Yoshida N, Sato M, Goto H(血液腫瘍科), Yuza Y, Hashii Y, Atsuta Y, Mizuta S, Kato M. Allogeneic Stem Cell Transplantation for Acute Lymphoblastic Leukemia in Adolescents and Young Adults. Biol Blood Marrow Transplant. 2019;25:1597-1602.
Murakami H(遺伝科), Enomoto Y, Tsurusaki Y(臨床研究所), Sugio Y, Kurosawa K(遺伝科). A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. Congenit Anom (Kyoto). 2019 Jul 19. doi: 10.1111/cga.12350.
Okumura Y, Adachi Y, Shirahase T, Nagashima Y, Tanaka Y(病理診断科), Taki Y, Watanabe J, Uegaki M, Sakatani T, Ikehara S. Malignant rhabdoid tumour in an adult kidney: A case report. Mol Clin Oncol. 2019;11:55-58.
Fujita A Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y(臨床研究所), Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 2019;93:e237-e251.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M(神経内科), Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nat Commun. 2019;10:2506.
Kondo A, Akada S, Akiyama K, Arakawa M, Ichi S, Inamoto Y, Ishida T, Ishikawa H(産婦人科), Itoh T, Izumi A, Kimura F, Kondo AS, Matsuoka R, Miyauchi A, Mochizuki J, Momohara Y, Morikawa S, Morioka M, Morota N, Nakabe K, Obayashi S, Oku M, Samura O, Sasahara J, Sase M, Shimamoto K, Shimamura K, Sumigama S, Tada K, Takahashi H, Tani A, Wada S, Wada-HIraike O, Watanabe T, Yamaguchi M, Yasui T, Yokomine M. Real prevalence of neural tube defects in Japan: How many of such pregnancies have been terminated? Congenit Anom (Kyoto). 2019;59:118-124.
Aizawa Y, Shoji T, Ito K, Kasai M, Sakurai H, Toyofuku E(感染免疫科), Minami K, Hoshino T, Horikoshi Y. Multidrug-resistant Gram-negative Bacterial Bloodstream Infections in Children's Hospitals in Japan, 2010-2017. Pediatr Infect Dis J. 2019;38:653-659.
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y(臨床研究所), Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med. 2019;21:1629-1638.
Matsumura N(眼科), Suzuki T, Goto S, Fujita T(眼科), Yamane S, Maruyama-Inoue M, Kadonosono K. Transcanalicular endoscopic primary dacryoplasty for congenital nasolacrimal duct obstruction. Eye (Lond). 2019;33:1008-1013.
Kuroda Y(遺伝科), Kimura Y(臨床研究所), Uehara T, Kosaki K, Kurosawa K(遺伝科). Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability. Congenit Anom (Kyoto). 2019 Jun 24. doi: 10.1111/cga.12347.
Tominaga M(遺伝科), Saito T(臨床研究所), Masuno M, Umeda Y, Kurosawa K(遺伝科). Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13. Congenit Anom (Kyoto). 2019 Jun 17. doi: 10.1111/cga.12346.
Mikami T, Koyama A, Hashimoto K, Maegawa J, Yabuki Y, Kagimoto S, Kitayama S, Kaneta T, Yasumura K(形成外科), Matsubara S, Iwai T. Pathological changes in the lymphatic system of patients with secondary upper limb lymphoedema. Sci Rep. 2019;9:8499.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K(内分泌代謝科), Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019;393:2416-2427.
Adachi M(内分泌代謝科), Takamasu T, Inuo C(アレルギー科). Hyponatremia secondary to severe atopic dermatitis in early infancy. Pediatr Int. 2019;61:544-550.
Hongo Y, Kaneko J, Suga H, Ishima D, Kitamura E, Akutsu T, Onozawa Y, Kanazawa N, Goto T(神経内科), Nishiyama K, Iizuka T. Correction to: A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features. J Neurol. 2019;266:1473.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K(遺伝科), Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Ann Neurol. 2019;85:927-933.
Takenaka S, Kuroda Y(遺伝科), Ohta S, Mizuno Y, Hiwatari M, Miyatake S, Matsumoto N, Oka A. A Japanese patient with RAD51-associated Fanconi anemia. Am J Med Genet A. 2019;179:900-902.
Hongo Y, Kaneko J, Suga H, Ishima D, Kitamura E, Akutsu T, Onozawa Y, Kanazawa N, Goto T(神経内科), Nishiyama K, Iizuka T. A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features. J Neurol. 2019;266:1459-1472.
Kuroda Y, Murakami H(遺伝科), Enomoto Y, Tsurusaki Y(臨床研究所), Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K(遺伝科). A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. Clin Genet. 2019;95:713-717.
Kuroda Y, Murakami H, Yokoi T(遺伝科), Kumaki T(神経内科), Enomoto Y, Tsurusaki Y, Kurosawa K(遺伝科). Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon. Brain Dev. 2019;41:538-541.
Matsumura N(眼科), Suzuki T, Goto S, Fujita T(眼科), Yamane S, Maruyama-Inoue M, Kadonosono K. Transcanalicular endoscopic primary dacryoplasty for congenital nasolacrimal duct obstruction. Eye (Lond). 2019;33:1008-1013.
Nagahara N, Tanaka M, Tanaka Y(病理診断科), Ito T. Novel Characterization of Antioxidant Enzyme, 3-Mercaptopyruvate Sulfurtransferase-Knockout Mice: Overexpression of the Evolutionarily-Related Enzyme Rhodanese. Antioxidants (Basel). 2019;8. pii: E116. doi: 10.3390/antiox8050116.
Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T(産婦人科), Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. J Hum Genet. 2019;64:487-492.
Kuwajima M, Goto M, Kurane K, Shimbo H(遺伝科), Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K(遺伝科), Yamagata T, Osaka H. MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA(Met) gene. with m.4450 G > A mutation in mitochondrial tRNA(Met) gene. Brain Dev. 2019;41:465-469.
Numakura C, Tamiya G, Ueki M, Okada T, Maisawa SI, Kojima-Ishii K, Murakami J, Horikawa R, Tokuhara D, Ito K, Adachi M(内分泌代謝科), Abiko T, Mitsui T, Hayasaka K. Growth impairment in individuals with citrin deficiency. J Inherit Metab Dis. 2019;42:501-508.
Yakushijin K, Ikezoe T, Ohwada C, Kudo K, Okamura H, Goto H(血液腫瘍科), Yabe H, Yasumoto A, Kuwabara H, Fujii S, Kagawa K, Ogata M, Onishi Y, Kohno A, Watamoto K, Uoshima N, Nakamura D, Ota S, Ueda Y, Oyake T, Koike K, Mizuno I, Iida H, Katayama Y, Ago H, Kato K, Okamura A, Kikuta A, Fukuda T. Clinical effects of recombinant thrombomodulin and defibrotide on sinusoidal obstruction syndrome after allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant. 2019;54:674-680.
Murakami H(遺伝科), Kimura Y, Enomoto Y, Tsurusaki Y(臨床研究所), Akahira-Azuma M, Kuroda Y(遺伝科), Tsuji M, Goto T(神経内科), Kurosawa K(遺伝科). Discordant phenotype caused by CASK mutation in siblings with NF1. Hum Genome Var. 2019;6:20.
Hara R, Umebayashi H, Takei S, Okamoto N, Iwata N, Yamasaki Y, Nakagishi Y, Kizawa T, Kobayashi I, Imagawa T(感染免疫科), Kinjo N, Amano N, Takahashi Y, Mori M, Itoh Y, Yokota S. Intravenous abatacept in Japanese patients with polyarticular-course juvenile idiopathic arthritis: results from a phase III open-label study. Pediatr Rheumatol Online J. 2019;17:17.
Nakamura N(整形外科), Inaba Y, Aota Y, Machida J(整形外科), Saito T. Characteristic Reconstitution of the Spinal Langerhans Cell Histiocytosis in Young Children. J Pediatr Orthop. 2019;39:e308-e311.
Koshinaga T, Takimoto T, Okita H, Tanaka Y(病理診断科), Inoue E, Oue T, Nozaki M, Tsuchiya K, Haruta M, Kaneko Y, Fukuzawa M. Blastemal predominant type Wilms tumor in Japan: Japan Children's Cancer Group. Pediatr Int. 2019;61:351-357.
Fujita N, Kobayashi R, Atsuta Y, Iwasaki F(血液腫瘍科), Suzumiya J, Sasahara Y, Inoue M, Koh K, Hori T, Goto H(血液腫瘍科), Ichinohe T, Hashii Y, Kato K, Suzuki R, Mitsui T. Hematopoietic stem cell transplantation in children and adolescents with relapsed or refractory B-cell non-Hodgkin lymphoma. Int J Hematol. 2019;109:483-490.
Chino K, Sasaki Y, Miyagawa N(血液腫瘍科), Meredith B, Delaney KM, Goto H, Rosario F. Pediatric cancer care can be complicated by language barriers: A case involving parents with limited Japanese proficiency. Pediatr Blood Cancer. 2019;66:e27563.
Ikeda A(神経内科), Watanabe Y, Kaba H(神経内科), Kaneko K, Takahashi T, Takeshita S. MRI findings in pediatric neuromyelitis optica spectrum disorder with MOG antibody: Four cases and review of the literature. Brain Dev. 2019;41:367-372.
Tsuda K, Iwata S, Mukai T, Shibasaki J(新生児科), 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; Baby Cooling Registry of Japan Collaboration Team. Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants. Ther Hypothermia Temp Manag. 2019;9:76-85.
Tomizawa D, Yoshida M, Kondo T, Miyamura T, Taga T, Adachi S, Koh K, Noguchi M, Kakuda H, Watanabe K, Cho Y, Fukuda T, Kato M, Shiba N, Goto H(血液腫瘍科), Okada K, Inoue M, Hashii Y, Atsuta Y, Ishida H. Allogeneic hematopoietic stem cell transplantation for children and adolescents with high-risk cytogenetic AML: distinctly poor outcomes of FUS-ERG-positive cases. Bone Marrow Transplant. 2019;54:393-401.
Yokoi T(遺伝科), Saito T, Nagai JI(臨床研究所), Kurosawa K(遺伝科). 17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectualdisability. Congenit Anom (Kyoto). 2019;59:51-52.
Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K(遺伝科), 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. 2019;11:36.
Adachi M(内分泌代謝科), Fukami M, Kagami M, Sho N(児童思春期精神科), Yamazaki Y(泌尿器科), Tanaka Y(病理診断科), Asakura Y, Hanakawa J, Muroya K(内分泌代謝科). Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. J Pediatr Endocrinol Metab. 2019;32:191-196.
Handa A, Nozaki T, Makidono A, Okabe T, Morita Y, Fujita K(放射線科), Matsusako M, Kono T, Kurihara Y, Hasegawa D, Kumamoto T, Ogawa C, Yuza Y, Manabe A. Pediatric oncologic emergencies: Clinical and imaging review for pediatricians. Pediatr Int. 2019;61:122-139.
Tulyeu J, Tamaura M, Jimbo E, Shimbo H(神経内科), Takano K, Iai M, Yamashita S, Goto T(神経内科), Aida N(放射線科), Tokuhiro E, Yamagata T, Osaka H. Aggregate formation analysis of GFAP(R416W) found in one case of Alexander disease. Brain Dev. 2019;41:195-200.
Ohuchi H, Inai K, Nakamura M, Park IS, Watanabe M, Hiroshi O, Kim KS(循環器内科), Sakazaki H, Waki K, Yamagishi H, Yamamura K, Kuraishi K, Miura M, Nakai M, Nishimura K, Niwa K; JSACHD Fontan Investigators. Mode of death and predictors of mortality in adult Fontan survivors: A Japanese multicenter observational study. Int J Cardiol. 2019;276:74-80.
Inuo C(アレルギー科), Tanaka K, Nakajima Y, Yamawaki K, Matsubara T, Iwamoto H, Tsuge I, Urisu A, Kondo Y. Tolerability of partially and extensively hydrolysed milk formulas in children with cow's milk allergy. Asia Pac J Clin Nutr. 2019;28:49-56.
Haruta M, Arai Y, Okita H, Tanaka Y(病理診断科), Takimoto T, Sugino RP, Yamada Y, Kamijo T, Oue T, Fukuzawa M, Koshinaga T, Kaneko Y. Combined Genetic and Chromosomal Characterization of Wilms Tumors Identifies Chromosome 12 Gain as a Potential New Marker Predicting a Favorable Outcome. Neoplasia. 2019;21:117-131.
Murase N, Hinoki A, Shirota C, Tomita H, Shimojima N, Sasaki H, Nio M, Tahara K, Kanamori Y, Shinkai M(外科), Yamamoto H, Sugawara Y, Hibi T, Ishimaru T, Kawashima H, Koga H, Yamataka A, Uchida H. Multicenter, retrospective, comparative study of laparoscopic and open Kasai portoenterostomy in children with biliary atresia from Japanese high-volume centers. J Hepatobiliary Pancreat Sci. 2019;26:43-50.
Kobayashi S, Fukawa T, Yasumura K, Yabuki Y(形成外科), Satake T, Maegawa J. Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III. J Craniofac Surg. 2019;30:53-56.
Kobayashi S, Fukawa T, Yasumura K(形成外科), Satake T, Maegawa J. Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis. J Craniofac Surg. 2019;30:50-52.
Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K(遺伝科), Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Hum Genet. 2019;138:21-35.
Sakaguchi H, Muramatsu H, Hasegawa D, Kudo K, Ishida H, Yoshida N, Koh K, Noguchi M, Shiba N, Tokimasa S, Fukuda T, Goto H(血液腫瘍科), Miyamura T, Nakazawa Y, Hashii Y, Inoue M, Atsuta Y; Pediatric AML Working Group of the Japan Society for Hematopoietic Cell Transplantation. Comparison of conditioning regimens for autologous stem cell transplantation in children with acute myeloid leukemia: A nationwide retrospective study in Japan. Pediatr Blood Cancer. 2019;66:e27459.
Kato M, Kurata M, Kanda J, Kato K, Tomizawa D, Kudo K, Yoshida N, Watanabe K, Shimada H, Inagaki J, Koh K, Goto H(血液腫瘍科), Kato K, Cho Y, Yuza Y, Ogawa A, Okada K, Inoue M, Hashii Y, Teshima T, Murata M, Atsuta Y. Impact of graft-versus-host disease on relapse and survival after allogeneic stem cell transplantation for pediatric leukemia. Bone Marrow Transplant. 2019;54:68-75.
Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y(感染免疫科), Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T. Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. J Allergy Clin Immunol. 2019;143:266-275.
Ichikawa K, Tsuji M, Tsuyusaki Y(神経内科), Tomiyasu M, Aida N(放射線科), Goto T(神経内科). Serial Magnetic Resonance Imaging and (1)H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report. JIMD Rep. 2019;43:7-12.

PAGE TOP