研究業績

Publications 2012

  • Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y, Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet 2012; 158A:1083-1094.
  • Abe Y, Sato T, Takagi M, Watanabe T, Nagayama Y, Hasegawa T, Abe T. A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney. J Pediatr Endocr Met 2012;25:587-590.
  • Chida A, Shintani M, Yagi H, Fujiwara M, Kojima Y, Sato H, Imamura S, Yokozawa M, Onodera N, Horigome H, Kobayashi T, Hatai Y, MD, Nakayama T, Fukushima H, Nishiyama M, Doi S, Ono Y, Yasukouchi S, Ichida F, Fujimoto K, Ohtsuki S, Teshima H, Kawano T, Nomura Y, Gu H, Ishiwata T, Furutani Y, Inai K, Saji T, Matsuoka R, Nonoyama S,  Nakanishi T. Outcomes of Childhood Pulmonary Arterial Hypertension in BMPR2 and ALK1 Mutation Carriers. Am J Cardiol. 2012;110:586-593.
  • Chinen S, Miura M, Tamame T, Matsuoka M, Ohki H, Sumitomo N. Life-threatening Atrial Tachycardia after the Senning Operation in a Patient with Transposition of the Great Arteries. Heart and Vessels 2012;27:424-427.
  • D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P.Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr. 2012;171:911-919.
  • Doisaki S, Muramatsu H, Shimada A, Takahashi Y, Mori-Ezaki M, Sato M, Kawagushi H, Kinoshita A, Sotomatsu M, Hayashi Y, Furukawa-Hibi Y, Yamada K, Hoshino H, Kiyoi H, Yoshida N, Narita A, Wang X, Tanaka M, Hama A, Nisio N, Kojima S. Somatic mosaicism for oncogenic NRAS mutations in juvenile muelomonocytic leukemia. 2012 Blood (in press)
  • Fernández IS, Peters JM, Hadjiloizou S, Prabhu SP, Zarowski M, Stannard KM, Takeoka M, Rotenberg A, Kothare SV, Loddenkemper T. Clinical staging and electroencephalographic evolution of continuous spikes and waves during sleep. Epilepsia. 2012;53:1185-95.
  • Fujita H, Matsuoka S, Awazu M. Ambulatory blood pressure in prehypertensive children and adolescents. Pediatr Nephrol. 2012;27:1361-1367.
  • Fukami M, A Commentary on Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias J Hum Genet. 2012; 57: 405-406
  • Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T. Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet A. 2012;158A:1529-1534.
  • Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T. Mosaic upd(7)mat in a patient with Silver-Russell syndrome. Am J Med Genet A 2012;158A:465-468.
  • Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T. Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hum Reprod 2012;27:2541-2518.
  • Hokuto I, Matsuzaki Y, Miwa M, Arimitsu T, Okishio E, Ikeda K. Hepatocyte growth factor levels of cord blood in healthy term newborns. Arch Dis Child Fetal Neonatal Ed. 2012 Feb 28.
  • Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J.The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.Am J Med Genet 2012 ;158(6):1292-1303.
  • Ihara M, Ihara M, Doumura M. Effect of therapeutic riding on functional scoliosis as observed by roentgenography. Pediatr Int. 2012;43:160-162.
  • Ikezumi Y, Honda M, Matsuyama T, Ishikura K, Hataya H, Yata N, Nagai T, Fujita N, Ito S, Iijima K, Kaneko T, Uemura O. Establishment of a normal reference value for serum beta2 microglobulin in Japanese children: reevaluation of its clinical usefulness. Clin Exp Nephrol. 2012 Jul 14.[Epub ahead of print]
  • Inoue H, Kukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K, Japan Growth Genome Consortium. Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. Clin Endocrinol (Oxf) 2012;76:78-87.
  • Ishii T, Mitsui T, Suzuki S, Matsuzaki Y, Hasegawa T. A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein. Endocrinol 2012:153;2714-2723.
  • Ishikura K, Hamasaki Y, Sakai T, Hataya H, Mak RH, Honda M. Posterior reversible encephalopathy syndrome in children with kidney diseases. Pediatr Nephrol. 2012;27:275-384.
  • Ishikura K, Yoshikawa N, Nakazato H, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Ito S, Yata N, Ando T, Honda M. Two-year follow-up of a prospective clinical trial of cyclosporine for frequently relapsing nephrotic syndrome in children. Clin J Am Soc Nephrol. 2012 Jun 26.[Epub ahead of print]
  • Iwata O, Nabetani M, Takenouchi T, Iwaibara T, Iwata S, Tamura M; Working Group on Therapeutic Hypothermia for Neonatal Encephalopathy, Ministry of Health, Labor and Welfare, Japan; Japan Society for Perinatal and Neonatal Medicine. Hypothermia for neonatal encephalopathy: Nationwide Survey of Clinical Practice in Japan as of August 2010. Acta Paediatr. 2012;101:e197-202.
  • Izumi K, Brooks SS, Feret HA, Zackai EH.1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype.Am J Med Genet. 2012 ;158(7):1535-1541
  • Izumi K, Konczal LL, Mitchell AL, Jones MC.Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.J Pediatr. 2012 ;160(4):645-650.
  • Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet 2012;20:928-932.
  • Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J., Pinto G., manouvrier S., Polak M. Ogata, T, Sultan C. Screening of MAMLD1 mutations in 70 children with 46, XY DSD : identification and functional analysis of two new mutations. PLoS One. 2012;e32505:2012.
  • Kasahara M, Sakamoto S, Kanazawa H, Karaki C, Kakiuchi T, Shigeta T, Fukuda A, Kosaki R, Nakazawa A, Ishige M, Nagao M, Shigematsu Y, Yorifuji T, Naiki Y, Horikawa R. Living-donor liver transplantation for propionic acidemia.Pediatr Transplant.2012;16(3):230-234.
  • Kobayashi T, Saji T, Otani T, Takeuchi K, Nakamura T, Arakawa H, Kato T, Hara T, Hamaoka K, Ogawa S, Miura M, Nomura Y, Fuse S, Ichida F, Seki M, Fukazawa R, Ogawa C, Furuno K, Tokunaga H, Takatsuki S, Hara S, Morikawa A, on behalf of the RAISE Study Group Investigators. Efficacy of mmunoglobulin plus prednisolone for prevention of coronary artery abnormalities in severe Kawasaki diseas: a prospective, randomised, open, blinded-endpoint trial.Lancet. 2012;379:1613-1620.
  • Kodo K, Nishizawa T, Furutani M, Arai S, Ishihara K, Oda M, Makino S, Fukuda K, Takahashi T, Matsuoka R, Nakanishi T, Yamagishi H. Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. Circ J. 2012;76(7):1703-1711.
  • Kohno H, Igarashi Y, Ozono K, Ohyama K, Ogawa M, Osada H, Onigata K, Kanzaki S, Seino Y, Takahashi H, Tajima T, Tachibana K, Tanaka H, Nishi Y, Hasegawa T, Fujieda K, Fujita K, Horikawa R, Yokoya S, Yorifuji T, Tanaka T. Favorable impact on growth hormone treatment on cholesterol levels in Turner syndrome. Clin Pediatr Endocrinol 2012; 21:29-34.
  • Kosaki R, Kaneko T, Torii C, Kosaki K.EEC syndrome-like phenotype in a patient with an IRF6 mutation.Am J Med Genet. 2012 ;158(5):1219-1220.
  • Kosaki R, Nagao K, Kameyama K, Suzuki M, Fujii K, Miyashita T.Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.Am J Med Genet. 2012 ;158(7):1724-1728.
  • Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Hasegawa T, Murata M. Two-step biochemical differential diagnosis of classical 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants using urinary pregnanetriolone / tetrahydroxycortisone ratio and 11b-hydroxyandrosterone by gas chromatography - mass spectrometry. Clin Chem 2012;58:741-747.
  • Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. Ann Neurol. 2012;71:84-92.
  • Matsubara K, Iwata S, Nakayama T.: Antibodies against mumps virus component proteins. J Infect Chemother. 2012; 18: 466-471.
  • Miyairi I, Ziebarth J, Laxton JD, Wang X, van Rooijen N, Williams RW, Lu L, Byrne GI, Cui Y. Host genetics and Chlamydia disease: prediction and validation of disease severity mechanisms. PLoS One. 2012; 7: e33781.
  • Miyazaki O, Nishimura G, Sago H, Horiuchi T, Hayashi S, Kosaki R.Prenatal diagnosis of fetal skeletal dysplasia with 3D CT.Pediatr Radiol. 2012 ;42(7):842-852.
  • Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 44(11):1260-4. 2012
  • Mori M, Hiwatari M, Takita J, Ida K, Kawaguchi H. Successful syngeneic PBSC transplantation for a patient with refractory Evans syndrome. Bone Marrow Transplant 2012 (in press)
  • Morikawa T, Kajimura M, Nakamura T, Hishiki T, Nakanishi T, Yukutake Y, Nagahata Y, Ishikawa M, Hattori K, Takenouchi T, Takahashi T, Ishii I, Matsubara K, Kabe Y, Uchiyama S, Nagata E, Gadalla MM, Snyder SH, Suematsu M. Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway. Proc Natl Acad Sci U S A. 2012;109:1293-8.
  • Motoyama O, Hasegawa A, Aikawa A, Shishido S, Honda M, Tsuzuki K, Kinukawa T, Hattori M, Ogawa O, Yanagihara T, Saito K, Takahashi K, Ohshima S. Final height in a prospective trial of late steroid withdrawal after pediatric renal transplantation treated with cyclosporine and mizoribine. Pediatr Transplant. 2012;16:78-82.
  • Naito Y, Beres A, Lapidus-Krol E, Ratjen F, Langer JC. Does earlierlobectomy result in better long-term pulmonary function in children with congenital lung anomalies? A prospectives study J Pediatr Surg.2012;47:852-856.
  • Nakayama T, Kashiwagi Y, Kawashima H, Kumagai T, Ishii KJ, Ihara T. Alum-adjuvanted H5N1 whole virion inactivated vaccine (WIV) enhanced inflammatory cytokine productions. Vaccine 2012; 30: 3885-3890.
  • Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K.Ophthalmic features of CHARGE syndrome with CHD7 mutations.Am J Med Genet. 2012 ;158(3):514-518.
  • Ogata T, Fukami M, Yoshida R, Nagata E, Fujisawa Y, Yoshida A, Yoshimura Y. Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure. J Hum Genet. 2012;57:449-452
  • Okada T, Morozumi M, Sakata H, Takayanagi R, Ishiwada N, Sato Y, Oishi T, Tajima T, Haruta T, Kawamura N, Ouchi K, Matsubara K, Chiba N, Takahashi T, Iwata S, Ubukata K.: A practical approach estimating etiologic agents using real-time PCR in pediatric inpatients with community-acquired pneumonia.J Infect Chemother. 2012 May 9. [Epub ahead of print]
  • Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.J Hum Genet. 2012;57(3):191-196.
  • Onouchi Y, Ozaki K, Burns JC, Shimizu C, Terai M, Hamada H, Honda T, Suzuki H, Suenaga T, Takeuchi T, Yoshikawa N, Suzuki Y, Yasukawa K, Ebata R, Higashi K, Saji T, Kemmotsu Y, Takatsuki S, Ouchi K, Kishi F, Yoshikawa T, Nagai T, Hamamoto K, Sato Y, Honda A, Kobayashi H, Sato J, Shibuta S, Miyawaki M, Oishi K, Yamaga H, Aoyagi N, Iwahashi S, Miyashita R, Murata Y, Sasago K, Takahashi A, Kamatani N, Kubo M, Tsunoda T, Hata A, Nakamura Y, Tanaka T, Abe J, Kobayashi T, Arakawa H, Ichida F, Nomura Y, Miura M, Ikeda K, Hara T, Fukazawa R, Ogawa S, Hamaoka K, Newburger JW, Baker AL, Rowley AH, Shulman ST, Melish ME, Mason WH, Takahashi M, Tremoulet AH; Japan Kawasaki Disease Genome Consortium; US Kawasaki Disease Genetics Consortium. A genome-wide association study identifies three new risk loci for Kawasaki disease. Nature genetics. 2012:44;517-521.
  • Osumi T, Miharu M, Fuchimoto Y, Morioka H, Kosaki K, Shimada H. The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age. Pediatr Blood Cancer. 2012 (in press)
  • Osumi T, Miharu M, Tanaka R, Du W, Takahashi T, Shimada H. Imatinib is effective for prevention and improvement of fibrotic fasciitis as a manifestation of chronic GVHD. Bone Marrow Transplant. 2012 Jan;47(1):139-40.
  • Oto Y, Obata K, Matsubara K, Kozu Y, Tsuchiya T, Sakazume S, Yoshino A, Murakami N, Ogata T, Nagai T. Growth horomone-secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome. Am J Med Genet 2012;158A:1477-1480.
  • Qin XY, Kojima Y, Mizuno K, Ueoka K, Massart F, Spinelli C, Zaha H, Okura M, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Ogata T, Sone H. Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. J Hum Genet 2012;57:434-441.
  • Qin XY, Kojima Y, Mizuno K, Ueoka K, Muroya K, Miyado M, Zaha H, Akanuma H, Zeng Q, Fukuda T, Yoshinaga J, Yonemoto J, Kohri K, Hayashi Y, Fukami M, Ogata T, Sone H. Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients. PLoS One. 2012;7:e36711.
  • Saito T, Nagasaki K, Nishimura G, Takagi M, Hasegawa T, Uchiyama M. Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients. Am J Med Genet A 2012;158A:630-634.
  • Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol. 2012 ;72:298-300.
  • Sánchez Fernández I, Hadjiloizou S, Eksioglu Y, Peters JM, Takeoka M, Tas E, Abdelmoumen I, Rotenberg A, Kothare SV, Riviello JJ Jr, Loddenkemper T. Short-term response of sleep-potentiated spiking to high-dose diazepam in electric status epilepticus during sleep. Pediatr Neurol. 2012;46:312-8.
  • Sánchez Fernández I, Takeoka M, Tas E, Peters JM, Prabhu SP, Stannard KM, Gregas M, Eksioglu Y, Rotenberg A, Riviello JJ Jr, Kothare SV, Loddenkemper T. Early thalamic lesions in patients with sleep-potentiated epileptiform activity. Neurology. 2012;78:1721-7.
  • Sekii K, Ishikawa T, Ogata T, Itoh H, Iwashima S. Fetal myocardial tissue Doppler indices before birth physiologically change in proportion to body size adjusted for gestational age in low-risk term pregnancies. Early Hum Dev 2012;88:517-523.
  • Shiihara T, Miyake T, Izumi S, Watanabe M, Kamayachi K, Kodama K, Nabetani M, Ikemiyagi M, Yamaguchi Y, Sawaura N. Serum and cerebrospinal fluid S100B, neuron-specific enolase, and total tau protein in acute encephalopathy with biphasic seizures and late reduced diffusion: a diagnostic validity. Pediatr Int. 2012; 54: 52-55.
  • Shimasaki N, Fujisaki H, Cho D, Masselli M, Lockey T, Eldridge P, Leung W, Campana D. A clinically adaptable method to enhance the cytotoxicity of natural killer cells against B-cell malignancies. Cytotherapy. 2012;14:830-40.
  • Shinjoh M, Iketani O, Watanabe K, Shimojima N, Kudo M, Yamagishi H, Shimada H, Sugita K, Takahashi T, Mori T, Hasegawa N, Iwata S. Safety and efficacy of linezolid in 16 infants and children in Japan. J Infect Chemother. 2012 (in press)
  • Shinjoh M, Iketani O, Watanabe K, Shimojima N, Kudo M, Yamagishi H, Shimada H, Sugita K, Takahashi T, Mori T, Hasegawa N, Iwata S. Safety and efficacy of linezolid in 16 infants and children in Japan.J Infect Chemother. 2012 [Epub ahead of print]
  • Shinjoh M, Takano Y, Takahashi T, Hasegawa N, Iwata S, Sugaya N. Post-Exposure Prophylaxis for Influenza in Pediatric Wards: Oseltamivir or Zanamivir After Rapid Antigen Detection. Pediatr Infect Dis J. 2012 [Epub ahead of print]
  • Shirahata A, Fukutake K, Mimaya J, Takamatsu J, Shima M, Hanabusa H, Takedani H, Takashima Y, Matsushita T, Tawa A, Higasa S, Takata N, Sakai M, Kawakami K, Ohashi Y, Saito H. Clinical pharmacological study of a plasma-derived factor VIIa and factor X mixture (MC710) in haemophilia patients with inhibitors--phase I trial. Haemophilia. 2012;18:94-101.
  • Soneda A, Teruya H, Furuya N, Yoshihashi H, Enomoto K, Ishikawa A, Matsui K, Kurosawa K.Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital.Eur J Pediatr. 2012;171(2):301-305.
  • Sugihara S, Ogata T, Kawamura T, Urakami T, Takemoto K, Kikuchi N, Takubo N, Tsubouchi K, Horikawa R, Kobayashi K, Kasahara Y, Kikuchi T, Koike A, Mochizuki T, Minamitani K, Takaya R, Mochizuki H, Nishii A, Yokota I, Kizaki Z, Mori T, Shimura N, Mukai T, Matsuura N, Fujisawa T, Ihara K, Kosaka K, Kizu R, Takahashi T, Matsuo S, Hanaki K, Igarashi Y, Sasaki G, Soneda S, Teno S, Kanzaki S, Saji H, Tokunaga K, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families. Pediatr Diabetes 2012;13:33-44.
  • Sugiura H, Kouwaki M, Kato T, Ogata T, Sakamoto R, Ieshima A, Yokochi K. Magnetic resonance imaging in neonates with total asphyxia. Brain Dev 2012 (in press)
  • Sunakawa K, Tsukimoto I, Tsunematsu Y, Honda M, Iwai N, Maniwa T, Haigo H, Suzuki K, Mori T. Evaluation of the safety and efficacy of liposomal amphotericin B (L-AMB) in children.J Infect Chemother. 2012 (in press)
  • Takagi M, Ishii T, Barnes AM, Weis MA, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, Hasegawa T. A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfect. PLos One 2012;7(5):e36809
  • Takagi M, Ishii T, Inokuchi M, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Gradual loss of ACTH due to a novel mutation in LHX4: Comprehensive mutation screening in Japanese patients with congenital hypopituitarism. Plos One  2012;7(9):e46008
  • Takagi M, Kaneko-Schmitt S, Suzumori N, Nishimura G, Hasegawa T. Atypical Achondroplasia due to Somatic Mosaicism for the Common Thanatophoric Dysplasia Mutation R248C. Am J Med Genet  2012;158A(1):247-50.
  • Takenouchi T, Enomoto K, Nishida T, Torii C, Okazaki T, Takahashi T, Kosaki K.12q14 Microdeletion syndrome and short stature with or without relative macrocephaly.Am J Med Genet 2012;158A(10):2542-4..
  • Takenouchi T, Iwata O, Nabetani M, Tamura M. Therapeutic hypothermia for neonatal encephalopathy: JSPNM & MHLW Japan Working Group Practice Guidelines Consensus Statement from the Working Group on Therapeutic Hypothermia for Neonatal Encephalopathy, Ministry of Health, Labor and Welfare (MHLW), Japan, and Japan Society for Perinatal and Neonatal Medicine (JSPNM). Brain Dev. 2012;34:165-70.
  • Takenouchi T, Nakazawa M, Kanemura Y, Shimozato S, Yamasaki M, Takahashi T, Kosaki K. Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. Am J Med Genet. 2012;158(4):812-815.
  • Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K. Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. Am J Med Genet A. 2012
  • Takenouchi T, Shimozato S, Fujiwara H, Momoshima S, Takahashi T. Posterior cerebral artery dissection on a serial magnetic resonance angiography. Brain Dev. 2012;34:396-9.
  • Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R,Saitoh S, Takahashi T, Kosaki K.Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins Syndrome.Am J Med Genet 2012;158A(10):2621-3.
  • Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K. Congenital corneal staphyloma as a complication of Kabuki syndrome. Am J Med Genet. 2012;158(8):2000-2002.
  • Tarui T, Khwaja OS, Estroff JA, Robinson JN, Gregas MC, Grant PE. Altered fetal cerebral and cerebellar development in twin-twin transfusion syndrome. AJNR Am J Neuroradiol. 2012;33:1121-6.
  • Tokumura M, Watanabe H, Esaki T. Convalescent resting tachycardia predicts unfavorable outcome of anorexia nervosa. Pediatr Int. 2012; (in press)
  • Ubukata K, Chiba N, Morozumi M, Iwata S, Sunakawa K; The Working Group of Nationwide Surveillance for Bacterial Meningitis.: Longitudinal surveillance of Haemophilus influenzae isolates from pediatric patients with meningitis throughout Japan, 2000-2011. J Infect Chemother. 2012 Jul 18. [Epub ahead of print]
  • Uemura O, Honda M, Matsuyama T, Ishikura K, Hataya H, Nagai T, Ikezumi Y, Fujita N, Ito S, Iijima K. Is the new Schwartz equation derived from serum creatinine and body length suitable for evaluation of renal function in Japanese children? Eur J Pediatr. 2012;171:1401-1404.
  • Wakaki H, Ishikura K. Henoch-Schonlein nephritis with nephrotic state in children: predictors of poor outcomes. Pediatr Nephrol. 2012;27:335.
  • Watanabe A, Yanagihara K, Matsumoto T, Kohno S, Aoki N, Oguri T, Sato J, Muratani T, Yagisawa M, Ogasawara K, Koashi N, Kozuki T, Komoto A, Takahashi Y, Tsuji T, Terada M, Nakanishi K, Hattori R, Hirako Y, Maruo A, Minamitani S, Morita K, Wakamura T, Sunakawa K, Hanaki H, Ohsaki Y, Honda Y, Sasaoka S, Takeda H, Ikeda H, Sugai A, Miki M, Nakanowatari S, Takahashi H, Utagawa M, Kobayashi N, Takasaki J, Konosaki H, Aoki Y, Shoji M, Goto H, Saraya T, Kurai D, Okazaki M, Kobayashi Y, Katono Y, Kawana A, Saionji K, Miyazawa N, Sato Y, Watanuki Y, Kudo M, Ehara S, Tsukada H, Imai Y, Watabe N, Aso S, Honma Y, Mikamo H, Yamagishi Y, Takesue Y, Wada Y, Nakamura T, Mitsuno N, Mikasa K, Kasahara K, Uno K, Sano R, Miyashita N, Kurokawa Y, Takaya M, Kuwabara M, Watanabe Y, Doi M, Shimizu S, Negayama K, Kadota J, Hiramatsu K, Morinaga Y, Honda J, Fujita M, Iwata S, Iwamoto A, Ezaki T, Onodera S, Kusachi S, Tateda K, Tanaka M, Totsuka K, Niki Y, Matsumoto T.: Nationwide surveillance of bacterial respiratory pathogens conducted by the Surveillance Committee of Japanese Society of Chemotherapy, Japanese Association for Infectious Diseases, and Japanese Society for Clinical Microbiology in 2009: general view of the pathogens' antibacterial susceptibility. J Infect Chemother. 2012 Jul 6. [Epub ahead of print]
  • Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome. Congenit Anom. 2012 ;52(2):82-86.
  • Yamada M, Buller R, Bledsoe S, Storch GA. Rising rates of macrolide-resistant Mycoplasma pneumoniae in the central United States. Pediatr Infect Dis J. 2012;31:409-0.