研究業績

Publications 2015 (Oct. 2014 - Sept. 2015)

Nishijima T, Tsuchiya K, Tanaka N, Joya A, Hamada Y, Mizushima D, Aoki T, Watanabe K, Kinai E, Honda H, Yazaki H, Tanuma J, Tsukada K, Teruya K, Kikuchi Y, Oka S, Gatanaga H. Single-nucleotide polymorphisms in the UDP-glucuronosyltransferase 1A-3' untranslated region are associated with atazanavir-induced nephrolithiasis in patients with HIV-1 infection: a pharmacogenetic study. J Antimicrob Chemother. 2014;69:3320-3328

Nishijima T, Kawasaki Y, Tanaka N, Mizushima D, Aoki T, Watanabe K, Kinai E, Honda H, Yazaki H, Tanuma J, Tsukada K, Teruya K, Kikuchi Y, Gatanaga H, Oka S. Long-term exposure to tenofovir continuously decrease renal function in HIV-1-infected patients with low body weight: results from 10 years of follow-up. AIDS. 2014;28:1903-1910

Mori T, Hasegawa N, Sugita K, Shinjoh M, Nakamoto N, Shimizu T, Hori S, Iketani O, Fujiwara H, Takano Y, Iwata S. Clinical features of bacteremia due to Campylobacter jejuni. Intern Med. 2014;53:1941-1944

Funatsu Y, Hasegawa N, Fujiwara H, Namkoong H, Asami T, Tasaka S, Kimizuka Y, Kamata H, Ishii M, Iketani O, Ogata H, Iwata S, Betsuyaku T.: Pharmacokinetics of arbekacin in bronchial epithelial lining fluid of healthy volunteers. J Infect Chemother. 2014;20:607-611

Kumagai T, Nakayama T, Okuno Y, Kase T, Nishimura N, Ozaki T, Miyata A, Suzuki E, Okafuji T, Okafuji T, Ochiai H, Nagata N, Tsutsumi H, Okamatsu M, Sakoda Y, Kida H, Ihara T. Humoral immune response to influenza A(H1N1)pdm2009 in patients with natural infection and in vaccine recipients in the 2009 pandemic. Viral Immunol. 2014;27:368-374

Sugaya N. A review of the indirect protection of younger children and the elderly through a mass influenza vaccination program in Japan. Expert Rev Vaccines. 2014;13:1563-1570

Sakai-Tagawa Y, Ozawa M, Yamada S, Uchida Y, Saito T, Takahashi K, Sugaya N, Tashiro M, Kawaoka Y. Detection sensitivity of influenza rapid diagnostic tests. Microbiol Immunol. 2014;58:600-606

Shiragami M, Mizukami A, Leeuwenkamp O, Mrkvan T, Delgleize E, Kurono Y, Iwata S.: Cost-Effectiveness Evaluation of the 10-Valent Pneumococcal Non-typeable Haemophilus influenzae Protein D Conjugate Vaccine and 13-Valent Pneumococcal Vaccine in Japanese Children. Infect Dis Ther. 2014 Dec 20. [Epub ahead of print]

Kinai E, Gatanaga H, Kikuchi Y, Oka S, Kato S. Ultrasensitive method to quantify intracellular zidovudine mono-, di- and triphosphate concentrations in peripheral blood mononuclear cells by liquid chromatography-tandem mass spectrometry. J Mass Spectrom. 2015;50:783-791

Funaki T, Miyata I, Shoji K, Enomoto Y, Sakamoto S, Kasahara M, Miyairi I. Therapeutic Drug Monitoring in Neonatal HSV Infection on Continuous Renal Replacement Therapy. Pediatrics. 2015;136:e270-274

Funaki T, Shoji K, Miyata I, Sakamoto S, Kasahara M, Yoshii H, Miyairi I, Saitoh A. Serostatus following live attenuated vaccination administered before pediatric liver transplantation. Liver Transpl. 2015;21:774-783

Funaki T, Miyairi I. Lymphocytosis in a baby with pertussis. Lancet Infect Dis. 2015;15:130

Miyata I, Kubo T, Miyairi I, Saitoh A, Morimoto N. Successful detection and genotyping of rubella virus from preserved umbilical cord of patients with congenital rubella syndrome. Clin Infect Dis. 2015;60:605-607

Shinjoh M, Hoshino K, Takahashi T, Nakayama T. Updated data on effective and safe immunizations with live-attenuated vaccines for children after living donor liver transplantation.Vaccine. 2015;33:701-707

Takahashi N, Shinjoh M, Tomita H, Fujino A, Sugita K, Katohno Y, Kuroda T, Kikuchi K.
Catheter-related blood stream infection caused by Dermacoccus barathri, representing the first case of Dermacoccus infection in humans. J Infect Chemother. 2015 Aug;21:613-616

Shoji K, Shinjoh M, Horikoshi Y, Tang J, Watanabe Y, Sugita K, Tame T, Iwata S, Miyairi I, Saitoh A. High rate of inducible clindamycin resistance in Staphylococcus aureus isolates--a multicenter study in Tokyo, Japan. J Infect Chemother. 2015;21:81-83

Shiro H, Sato Y, Toyonaga Y, Hanaki H, Sunakawa K. Nationwide survey of the development of drug resistance in the pediatric field in 2000-2001, 2004, 2007, 2010, and 2012: Evaluation of the changes in drug sensitivity of Haemophilus influenzae and patients' background factors. J. infect. Chemother 2015;21:247-256

Iwata S, Sato Y, Toyonaga Y, Hanaki H, Sunakawa K.: Genetic analysis of a pediatric clinical isolate of Moraxella catarrhalis with resistance to macrolides and quinolones. J Infect Chemother. 2015;21:308-311

Iwata S, Kawamura N, Kuroki H, Tokoeda Y, Miyazu M, Iwai A, Oishi T, Sato T, Suyama A, François N, Shafi F, Ruiz-Guiñazú J, Borys D.: Immunogenicity and safety of the 10-valent pneumococcal nontypeable Haemophilus influenzae protein D conjugate vaccine (PHiD-CV) co-administered with DTPa vaccine in Japanese children: A randomized, controlled study. Hum Vaccin Immunother. 2015;11:826-837

Masaki K, Ishii M, Anraku M, Namkoong H, Miyakawa R, Nakajima T, Fukunaga K, Naoki K, Tasaka S, Soejima K, Sayama K, Sugita K, Iwata S, Cui L, Hanaki H, Hasegawa N, Betsuyaku T.: Fatal fulminant pneumonia caused by methicillin-sensitive Staphylococcus aureus negative for major high-virulence factors following influenza B virus infection. Am J Case Rep. 2015;16:454-458

Mishima K, Obara H, Sugita K, Shinoda M, Kitago M, Abe Y, Hibi T, Yagi H, Matsubara K, Mori T, Takano Y, Fujiwara H, Itano O, Hasegawa N, Iwata S, Kitagawa Y.: Helicobacter cinaedi bacteremia with cellulitis after ABO-incompatible living-donor liver transplantation: Case report. World J Gastroenterol. 2015;21:7911-7915

Oguchi K, Miyata A, Kazuyama Y, Noda A, Suzuki E, Watanabe M, Nakayama T.
Detection of antibodies against fimbria type 3 (Fim3) is useful diagnostic assay for pertussis. J Infect Chemother. 2015 21:639-646
Suzuki K, Kurono Y, Ikeda K, Watanabe A, Iwamoto A, Totsuka K, Kaku M, Iwata S, Kadota J, Hanaki H.: Nationwide surveillance of 6 otorhinolaryngological infectious diseases and antimicrobial susceptibility pattern in the isolated pathogens in Japan. J Infect Chemother. 2015 ;21:483-491

Shiragami M, Mizukami A, Leeuwenkamp O, Mrkvan T, Delgleize E, Kurono Y, Iwata S.: Reply to Farkouh RA et al. Comment on "Cost-Effectiveness Evaluation of the 10-Valent Pneumococcal Non-Typeable Haemophilus Influenzae Protein D Conjugate Vaccine and 13-Valent Pneumococcal Vaccine in Japanese Children". Infect Dis Ther. 2015;4:235-244

Yanagihara K, Kadota J, Aoki N, Matsumoto T, Yoshida M, Yagisawa M, Oguri T, Sato J, Ogasawara K, Wakamura T, Sunakawa K, Watanabe A, Iwata S, Kaku M, Hanaki H, Ohsaki Y, Watari T, Toyoshima E, Takeuchi K, Shiokoshi M, Takeda H, Miki M, Kumagai T, Nakanowatari S, Takahashi H, Utagawa M, Nishiya H, Kawakami S, Kobayashi N, Takasaki J, Mezaki K, Konosaki H, Aoki Y, Yamamoto Y, Shoji M, Goto H, Saraya T, Kurai D, Okazaki M, Niki Y, Yoshida K, Kawana A, Saionji K, Fujikura Y, Miyazawa N, Kudo M, Sato Y, Yamamoto M, Yoshida T, Nakamura M, Tsukada H, Imai Y, Tsukada A, Kawasaki S, Honma Y, Yamamoto T, Ban N, Mikamo H, Sawamura H, Miyara T, Toda H, Sato K, Nakamura T, Fujikawa Y, Mitsuno N, Mikasa K, Kasahara K, Sano R, Sugimoto K, Asari S, Nishi I, Toyokawa M, Miyashita N, Koguchi Y, Kusano N, Mihara E, Kuwabara M, Watanabe Y, Kawasaki Y, Takeda K, Tokuyasu H, Masui K, Negayama K, Hiramatsu K, Aoki Y, Fukuoka M, Magarifuchi H, Nagasawa Z, Suga M, Muranaka H, Morinaga Y, Honda J, Fujita M.: Nationwide surveillance of bacterial respiratory pathogens conducted by the surveillance committee of Japanese Society of Chemotherapy, the Japanese Association for Infectious Diseases, and the Japanese Society for Clinical Microbiology in 2010: General view of the pathogens' antibacterial susceptibility. J Infect Chemother. 2015;21:410-420

Hamasuna R, Yasuda M, Ishikawa K, Uehara S, Hayami H, Takahashi S, Matsumoto T, Yamamoto S, Minamitani S, Watanabe A, Iwata S, Kaku M, Kadota J, Sunakawa K, Sato J, Hanaki H, Tsukamoto T, Kiyota H, Egawa S, Tanaka K, Arakawa S, Fujisawa M, Kumon H, Kobayashi K, Matsubara A, Naito S, Kuroiwa K, Hirayama H, Narita H, Hosobe T, Ito S, Ito K, Kawai S, Ito M, Chokyu H, Matsumura M, Yoshioka M, Uno S, Monden K, Takayama K, Kaji S, Kawahara M, Sumii T, Kadena H, Yamaguchi T, Maeda S, Nishi S, Nishimura H, Shirane T, Yoh M, Akiyama K, Imai T, Kano M.: The second nationwide surveillance of the antimicrobial susceptibility of Neisseria gonorrhoeae from male urethritis in Japan, 2012-2013. J Infect Chemother. 2015;21:340-345

Namkoong H, Funatsu Y, Oishi K, Akeda Y, Hiraoka R, Takeshita K, Asami T, Yagi K, Kimizuka Y, Ishii M, Tasaka S, Suzuki Y, Iwata S, Betsuyaku T, Hasegawa N.: Comparison of the immunogenicity and safety of polysaccharide and protein-conjugated pneumococcal vaccines among the elderly aged 80 years or older in Japan: an open-labeled randomized study. Vaccine. 2015;33:327-332

Morozumi M, Chiba N, Igarashi Y, Mitsuhashi N, Wajima T, Iwata S, Ubukata K.: Direct identification of Streptococcus agalactiae and capsular type by real-time PCR in vaginal swabs from pregnant women. J Infect Chemother. 2015;21:34-38

Sugaya N, Sakai-Tagawa Y, Bamba M, Yasuhara R, Yamazaki M, Kawakami C, Yamaguchi Y, Ide Y, Ichikawa M, Mitamura K, Kawaoka Y. Comparison between virus shedding and fever duration after treating children with pandemic A H1N1/09 and children with A H3N2 with a neuraminidase inhibitor. Antivir Ther. 2015;20:49-55
Shoji K, Funaki T, Kasahara M, Sakamoto S, Fukuda A, Vaida F, Ito K, Miyairi I, Saitoh A. Risk Factors for Bloodstream Infection after Living-Donor Liver Transplantation in Children. Pediatr Infect Dis J. 2015 [Epub ahead of print]

Shiraishi I, Nishimura K, Sakaguchi H, Abe T, Kitano M, Kurosaki K, Kato H, Sagawa K, Yamagishi H, Nakanishi T, Ikeda Y, Morisaki T, Hoashi T, Kagisaki K, Ichikawa H. Acute Rupture of Chordae Tendineae of the Mitral Valve in Infants: A Nationwide Survey in Japan Exploring a New Syndrome. Circulation 2014;130:1053-61

Ebert AD, Kodo K, Liang P, Wu H, Huber BC, Riegler J, Churko J, Lee J, de Almeida P, Lan F, Diecke S, Burridge PW, Gold JD, Mochly-Rosen D, Wu JC. Characterization of the molecular mechanisms underlying inreased ischemic damage in the aldehyde dehydrogenase 2 genetic polymorphism using a human induced pluripotent stem cell model system. Sci Transl Med. 2014;6:255ra130

Ong SG, Lee WH, Huang M, Dey D, Kodo K, Sanchez-Freire V, Gold JD, Wu JC. Cross talk of combined gene and cell therapy in ischemic heart disease: role of exosomal microRNA transfer. Circulation. 2014;130:S60-69

Ong SG, Lee WH, Theodorou L, Kodo K, Lim SY, Shukla DH, Briston T, Kiriakidis S, Ashcroft M, Davidson SM, Maxwell PH, Yellon DM, Hausenloy DJ. HIF-1 reduces ischaemia-reperfusion injury in the heart by targeting the mitochondrial permeability transition pore. Cardiovasc Res. 2014;104:24-36

Kojima T, Kuwata S, Kurishima C, Iwamoto Y, Saiki H, Ishido H, Masutani S, Senzaki H. Aortic Root Dilatation and Aortic Stiffness in Patients With Single Ventricular Circulation. Circ J. 2014;78:2507-11

Fukushima H. Update on medical treatment of patients with Eisenmenger syndrome. Int Heart J. 2015;56:S4-S7

Yasuhara J, Yamagishi H. Pulmonary arterial hypertension associated with tetralogy of Fallot. Int Heart J. 2015;56:S17-21

Goto M, Miyagawa N, Kikunaga K, Miura M, Hasegawa Y. High incidence of adrenal suppression in children with Kawasaki disease treated with intravenous immunoglobulin plus prednisolone. Endocr J. 2015;62:145-151

Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH: A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome. Clin Genet. 2014;86:539-544

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. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gallop-Wolfgang complex. Orphanet J Rare Disease. 2014;9:125

Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T: Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype. Eur J Hum Genet. 2014 [Epub ahead of print]

Harayama T, Shindou H, Kita Y, Otsubo E, Ikeda K, Chida S, Weaver TE, Shimizu T Establishment of LC-MS methods for the analysis of palmitoylated surfactant proteins.
J Lipid Res. 2015;56:1370-9

Nakashima S, Kato F, Kosho T, Nagasaki K, Kikuchi T, Kagami M, Fukami M, Ogata T: Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C. J Hum Genet. 2015;60:91-95

Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T. A novel mutation in SOX3 polyalanine tract: A case of Kabuki syndrome with combined pituitary hormone deficiency harboring bouble mutations in MLL2 and SOX3. Pituitary. 2014;17:569-574

Abe Y, Nagasaki K, Watababe T, Abe T, Fukami M. Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. Horm Res Pediatr. 2014;82:65-71

Koyama Y, Homma K, Hasegawa T. Urinary steroid profiling: A powerful method for the diagnosis of abnormal steroidogenesis. Expert Rev Endocrinol Metab. 2014;9:273-282

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. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. Am J Med Genet A. 2014;164A:2529-2534

Soneda A, Adachi M, Muroya K, Asakura Y, Yamagami Y, Hirahara F. Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement. Endocr J. 2014;61:1025-1030

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. 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. Hum Mutat. 2014;35:1092-1100

Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, Sasaki G, Hasegawa T. Comprehensive Next Generation Sequencing Analyses of Hypoparathyroidism: Identification of Novel GCM2 Mutations. J Clin Endocrinol Metab. 2014;99:E2421-2418

Adachi M, Muroya K, Asakura Y, Sugiyama K, Homma K, Hasegawa T. Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: A patient report and review of the literature. Horm Res Paediatr. 2014;82:138-142

Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T.Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. J Hum Genet. 2014;59:549-553

Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertil Steril. 2014;102:1130-1136

Kitsuda K, Yamaguchi R, Nagata E, Nakagawa Y, Ohzeki T, Ogata T, Nakanishi T: Hypertrophic cells in hypophagic intrauterine growth retarded rats without catch-up growth. Kitasato Med J. 2014;44:38-46

Kawamoto T, Nitta H, Murata K, Toda E, Tsukamoto N, Hasegawa M, Yamagata Z, Kayama F, Kshi R, Ohya Y, Saito H, Sago H, Okuyama M, Ogata T, Yokoya S, Koresawa Y, Shibata Y, Nakayama S, Michikawa T, Takeuchi A, Saitoh H. Rationale and study design of the Japan environment and children's study (JECS). BMC Public Health. 2014;10:14-25

Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simon C, Moore H, Harness J, Keirstead H, Vicente Sanchez-Mut J, Kaneki E, Lapunzina P, Soejima H, Wake N, Esteller M, Ogata T, Hata K, Nakabayashi K, Monk D. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of the human imprintome and suggests a germline methylation independent establishment of imprinting. Genome Res. 2014;24:554-569

Maeda T, Higashimoto K, Jozaki K, Hitomi H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H:, Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. Genet Med. 2014;16:903-912

Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y. A missense single-nucleotide polymorphism in the sialic acid acetyl esterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. Endocr J. 2014;61:641-644

Fukami M, Ogata T. Cytochrome P450 oxidoreductase deficiency. Pediatr Int. 2014;56:805-808

Olney RC, Prickett TCR, Espiner EA, Mackenzie WG, Duker A, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocrinol Metab. 2014;100:E355-359

Takagi M, Matsushita M, Nishimura G, Hasegawa T. Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-prppeptide region of COL1A1. Human Genome Variation. 2014;1:14025

Matsuo N, Ishii T, Takayama JI, Miwa M, Hasegawa T. Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants. Endocrine J. 2014;61: 849-853

Hanaoka H, Hashiguchi A, Konishi K, Ishii T, Kuwana M. A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link. BMC Nephrology. 2014;15:154

Ishii T, Matsuo N, Inokuchi M, Hasegawa T. A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years. Horm Res Paediatr 2014;82: 388-393

Nakashima S, Oishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T: Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. J Hum Genet. 2014;59:549-53

Daitsu T, Igaki J, Goto M, Hasegawa Y. A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus. Clin Pediatr Endocrinol. 2014;23:115-7

Tanaka T, Hasegawa Y, Yokoya S, Nishi Y. Increased Secretion of Endogenous GH after Treatment with an Intranasal GH-releasing Peptide-2 Spray Does Not Promote Growth in Short Children with GH Deficiency.Clin Pediatr Endocrinol. 2014;23:107-14

Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y. The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.J Hum Genet. 2014;59:609-14

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T. Trends in thin body stature among Japanese female adolescents, 2003 to 2012. Ann Hum Biol 2014 Nov 3:1-5 [Epub ahead of print]

Ishikawa T, Takehara Y, Yamashita S, Iwashima S, Sugiyama M, Wakayama T, Johnson K, Wieben O, Sakahara H, Ogata T: Hemodynamic assessment in a child with renovascular hypertension using time-resolved three-dimensional cine phase-contrast MRI. J Magn Reson Imaging. 2015;41:165-168

Yanagi T, Mizuochi T, Homma K, Ueki I, Seki Y, Hasegawa T, Takei H, Nittono H, Kurosawa T, Matsuishi T, Kimura A. Distinguishing from primary from secondary ⊿4-3-oxisteroid 5b-reductase (SRD5B1, AKR1D1) deficiencyby urinary ateroid analysis. Clin Endocrinol. 2015;82:346-351

Narumi S, Hasegawa T. Congenital hypothyroidism due to PAX8 mutations. In: Thyroid diseases in childhood: Recent Advances from Basic Science to Clinical Practice 1st ed. Eds. Gianni Bona, Filippo De Luca, Alice Monzani. Springer. 2015;65-74

Anzo M, Inokuchi M, Matsuo N, Takayama JI, Hasegawa T. Waist circumference centiles by age and sex for Japanese children based on the 1978-1981 cross-sectional national survey data. Ann Hum Biol. 2015;42:56-61

Asakura Y, Muroya K, Hanakawa J, Sato T, Aida N, Narumi S, Hasegawa T, Adachi M. Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol. 2015;24:27-32

Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M. Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Hum Reprod. 2015;30:499-506

Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation. Endocirne. 2015;49:553-556

Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M. Copy-Number Variations in Y Chromosomal Azoospermia Factor Regions Identified by Multiplex Ligation-Dependent Probe Amplification. J Hum Genet. 2015;60:127-131

Katsumi M, Ishikawa H, Tanaka Y, Saito K, Kobori Y, Okada H, Saito H, Nakabayashi K, Matsubara Y, Ogata T, Fukami M, Miyado M. Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a (AZFa) Region in a Male with Mild Asthenozoospermia. Cytogenet Genome Res. 2015;144:285-289

Kashimada K, Ishii T (contributed equally to KK), Nagasaki K, Ono M, Tajima T, Yokota I, Hasegawa Y. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr J. 2015;62:285-290

Seki M, TakizawaT, Suzuki S, Shimizu T, Shibata H, Ishii T, Hasegawa T, Suzuki N. Adult phenylketonuria presenting with subacute severe neurologic symptoms. J Clin Neurosci. 2015;22:1361-1363

Ishii T, Anzo M, Adachi M, Onigata K, Kusuda S, Nagasaki K, Harada S, Horikawa R, Minagawa M, Minamitani K, Mizuno H, Yamagami Y, Fukushi M, Tajima T. Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clin Pediatr Endocrinol. 2015; 24:77-105

Nagasaki K, Minamitani K, Anzo M, Adachi M, Ishii T, Onigata K, Kusuda S, Harada S, Horikawa R, Minagawa M, Mizuno H, Yamakami Y, Fukushi M, Tajima T. Guidelines for mass screening of congenital hypothyroidism (2104 revision). Clin Pediatr Endocrinol 2015;24:107-133

Narumi S, Hasegawa T. TSH resistancerevisited. Endocrine J 2015:62;393-398.

Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. Heterozygous defects in PAX6 gene and congenital hypopituitarism. Eur J Endocrinol. 2015;172:37-45

Sato N, Hasegawa T, Hasegawa Y, Arisaka O, Ozono K, Amemiya S, Kikuchi T, Tanaka H, Harada S, Miyata J, Tanaka T. Treatment of situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols. Clin Pediatr Endocrinol. 2015;24:37-49

Goto M, Miyagawa N, Kikunaga K, Miura M, Hasegawa Y. Sigle serum cortisol values at 09:00 h can be indices of adrenocortical function in children with Kawasaki disease treated with intravenous immunoglobulin plus presnisolone. Clin Pediatr Endocrinol. 2015; 24:69-75

Takagi M, Yagi H, Nakamura Y, Shinohara H, Takeda R, Shimada A, Nixhimura G, Hasegawa Y. A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2. Clin Pediatr Endocrinol. 2015;24:139-141

Ueda K, Usui T, Watanabe T, Kaneko K, Nakatani R, Kakita-Kobayashi M, Tanase-Nakao K, Nanba K, Tsuiki M, Tagami T, Naruse M, Toyoda Y, Homma K, Hasegawa T, Shimatsu A. Elevated levels of plasma immunoassayable aldosterone in a mild form of 17-hydroxylaase/17,20-lyase deficiency diagnosed at the age of 50. AACE Clin Case Reports. 2015;1:e156-e160

Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T. Severe osteogenesis imperfect caused by double substitutions of triple helical glycine residues in COL1A2. Am J Med Genet A. 2015;167:1627-1631

Nakamura Y, Takagi M, Yoshihashi H, Miura M, Narumi S, Hasegawa T, Miyake Y, Hasegawa Y. A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome. Am J Med Genet A. 2015;167A:1171-1174

Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G. Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. Pediatr Radiol. 2015;45:1239-1243

Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y. Fertility preservation in a family with a novel NR5A1 mutation. Endocr J. 2015;62:289-295

Nomura R, Miyai K, Okada M, Kajiwara M, Ono M, Ogata T, Onishi I, Sato M, Sekine M, Akashi T, Mizutani S, Kashimada K: A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads. Clin Pediatr Endocrinol. 2015;24:11-14

Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N: Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of "exome-first" approach. J Hum Genet. 2015;60:175-82

Nishina-Uchida N, Fukuzawa R, Hasegawa Y, Morison IM.Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report. Medicine (Baltimore). 2015;94:e720

Kashimada K, Ishii T, Nagasaki K, Ono M, Tajima T, Yokota I, Hasegawa Y. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr J. 2015;62:277-82

Okada Y, Inoue N, Fukushima N, Yoshikawa T, Takahashi Y, Matsubara S, Hasegawa Y. Idiopathic mitral valve chordae rupture in an infant: importance of rapid diagnosis and surgery.Pediatr Int. 2015;57:e65-e68

Kuroda J, Inoue N, Satoh H, Fukuzawa R, Terakawa T, Hasegawa Y. Neonatal necrotizing fasciitis of the scrotum caused by Streptococcus agalactiae.Pediatr Int. 2015;57:e56-e58

Miyai K, Onishi T, Kashimada K, Hasegawa Y. Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A. Endocr J. 2015;62:61-68

Abe K, Narumi S, Suwanai AS, Hamajima T, Hasegawa T. Pseudodominant Inheritance in a Family with Non-autoimmune Hypothyroidism due to Biallelic DUOX2 Mutations. Clin Endocrinol. 2015;83:394-8

Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M. SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation. Sex Dev 2015 [Epub ahead of print]

Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B. A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis. Sex Dev. 2015 [Epub ahead of print]

Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K. Endocrinopathies in a Boy with Cryptic Copy-number Variations on 4q, 7q, and Xp. Human Genome Variation. 2015 [Epub ahead of print]

Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y. Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation. Horm Res Pediatr. 2015 [Epub ahead of print]

Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M. Testicular Dysgenesis/Regression without Campomelic Dysplasia in Patients Carrying Missense Mutations and Upstream Deletion of SOX9. Mol Genet Genom Med. 2015 [Epub ahead of print]

Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T: Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). Eur J Hum Genet. 2015 [Epub ahead of print]

Kon M, Fukami M. Submicroscopic copy-number variations associated with 46,XY disorders of sex development Mol Cell Pediatr. 2015 [Epub ahead of print]

Sato T, Muroya K, Asakura Y, Yachie A, Nishimura G, Aida N, Machida J, Tanaka Y, Hasegawa T, Adachi M. Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report. Am J Med Genet A. 2015 [Epub ahead of print]

Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. J Hum Genet. 2015 [Epub ahead of print]

Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M. Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias. Sex Dev. 2015 [Epub ahead of print]

Okubo Y, Goto M, Sakakibara H, Terakawa T, Kaneko T, Miyama S. The absence of later wave components in auditory brainstem responses as an initial manifestation of type 2 Gaucher disease. Pediatr Neurol. 2014;51:837-9

Willoughby BL, Favero M, Mochida GH, Braaten EB. Neuropsychological function in a child with 18p deletion syndrome: a case report. Cogn Behav Neurol. 2014;27:160-5

Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014;84:1240-57

Xu J, Antion MD, Nomura T, Kraniotis S, Zhu Y, Contractor A. Hippocampal metaplasticity is required for the formation of temporal associative memories. J Neurosci. 2014;34:16762-73

Takenouchi T, Sasaki A, Takahashi T. Multiple cerebral aneurysms after myxomatous stroke. Arch Dis Child. 2014;99:849

Sugiura Y, Morikawa T, Takenouchi T, Suematsu M Kajimura M. Cilostazol strengthens the endothelial barrier of postcapillary venules from the rat mesentery in situ. Phlebology. 2014;29:594-9

Iwata O, Takenouchi T, Iwata S, Nabetani M, Mukai T, Shibasaki J, Tsuda K, Tokuhisa T, Sobajima H, Tamura M. The baby cooling project of Japan to implement evidence-based neonatal cooling. Ther Hypothermia Temp Manag. 2014;4:173-9

Takenouchi T, Sakamoto Y, Miwa T, Torii C, Kosaki R, Kishi K, Takahashi T, Kosaki K. Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways. Am J Med Genet. 2014;164:2869-72

Yagihashi T, Torii C, Takahashi R, Omori M, Kosaki R, Yoshihashi H, Ihara M, Minagawa-Kawai Y, Yamamoto J, Takahashi T, Kosaki K. Clinical Utility of an Array Comparative Genomic Hybridization Analysis for Williams Syndrome. Congenit Anom (Kyoto). 2014;54:225-227

Okanishi T, Yamamoto H, Hosokawa T, Ando N, Nagayama Y, Hashimoto Y, Maihara T, Goto T, Kubota T, Kawaguchi C, Yoshida H, Sugiura K, Itomi S, Ohno K, Takanashi J, Hayakawa M, Otsubo H, Okumura A. Diffusion-weighted MRI for early diagnosis of neonatal herpes simplex encephalitis. Brain Dev. 2015;37:423-31

Iwata S, Ito M, Nakata T, Noguchi Y, Okuno T, Ohkawara B, Masuda A, Goto T, Adachi M, Osaka H, Nonaka R, Arikawa-Hirasawa E, Ohno K. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. Neuromuscul Disord. 2015;25:667-71

Cho-Hisamoto Y, Kojima K, Brown EC, Matsuzaki N, Asano E. Gamma activity modulated by naming of ambiguous and unambiguous images: intracranial recording. Clin Neurophysiol. 2015;126:17-26

Matsui Y, Takenouchi T, Narabayashi A, Ohara K, Nakahara T, Takahashi T. Childhood Sjögren syndrome presenting as acute brainstem encephalitis. Brain Dev. 2015 May 22.

Mitsuhashi T, Takahashi T. Proliferation and differentiation characteristics of neural stem cells during course of cerebral cortical histogenesis. Congenit Anom (Kyoto). 2015 Jun 8.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015;84:1745-50

Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015;96:709-19

Fernandes HB, Riordan S, Nomura T, Remmers CL, Kraniotis S, Marshall JJ, Kukreja L, Vassar R, Contractor A. Epac2 Mediates cAMP-Dependent Potentiation of Neurotransmission in the Hippocampus. J Neurosci. 2015;35:6544-53

Nomura T, Oyamada Y, Fernandes HB, Remmers C, Xu J, Meltzer H, Contractor A. Subchronic phencyclidine treatment in adult mice increases GABAergic transmission and LTP threshold in the hippocampus. Neuropharmacology. 2015 Apr 30.

Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K. Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. Am J Med Genet. 2015;167:156-8

Takenouchi T, Sakamoto Y, Torii T, Hata K, Kosaki R, Kosaki K. Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation. Am J Med Genet. 2015;167A:907-9

Takenouchi T, Awazu M, Eggermann T, Kosaki K. Adult phenotype of Russell-Silver syndrome: a molecular support for Barker-Brenner's theory. Congenit Anom. 2015;55:167-9

Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K. Paramagnetic signals in the globus pallidus are a lateradiographic sign of juvenile-onset GM1 gangliosidosis. Pediatr Neurol. 2015;52:226-229

Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki K. Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. Journal of Pediatrics. 2015;166:483-486

Takenouchi T, Sugiura Y, Morikawa T, Nakanishi T, Nagahata Y, Sugioka T, Honda K, Kubo A, Hishiki T, Matsuura T, Hoshino T, Takahashi T, Suematsu M, Kajimura M. Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia. J Cereb Blood Flow Metab. 2015;35:794-805

Pinto AL, Lohani S, Bergin AM, Bourgeois BF, Black PM, Prabhu SP, Madsen JR, Takeoka M, Poduri A. Surgery for intractable epilepsy due to unilateral brain disease: a retrospective study comparing hemispherectomy techniques. Pediatr Neurol. 2014;51:336-43

Harini C, Das RR, Prabhu SP, Singh K, Haldar A, Takeoka M, Bergin AM, Loddenkemper T, Kothare SV. Clinical and Neuroimaging Profile of Children with Lesions in the Corpus Callosum. J Neuroimaging. 2015;25:824-31

Ueda K, Brown EC, Kojima K, Juhász C, Asano E. Mapping mental calculation systems with electrocorticography. Clin Neurophysiol. 2015;126:39-46

Yoshii A, Constantine-Paton M, Ip NY. Editorial: Cell and molecular signaling, and transport pathways involved in growth factor control of synaptic development and function. Front Synaptic Neurosci. 2015;7:8

Uemura O,Nagai T, Ishikura K, Ito S, Hataya H, Gotoh Y, Fujita N,Akioka Y, Kaneko T, Honda M. Creatinine-based equation to estimate the glomerular filtration rate in Japanese children and adolescents with chronic kidney disease. Clin Exp Nephrol. 2014;18:626-633.

Iijima K, Sako M, Nozu K, Mori R, Tuchida N, Kamei K, Miura K, Aya K, Nakanishi K, Ohtomo Y, Takahashi S, Tanaka R, Kaito H, Nakamura H, Ishikura K, Ito S, Ohashi Y. Rituximab for childhood-onset, complicated, frequently relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicentre, double-blind, randomised, placebo-controlled trial. Lancet. 2014;384:1273-1281

CS Joint working Group, Saji T, Echizen H, Fukushima N, Hamaoka K, Hayashi M, Honda M, Ishikawa S, Matsuura H, Murakami T, Nakagawa M, Nakanishi T, Niwa K, Ogawa S, Okada T, Sumitomo N, Suzuki Y, Taki M, Yoda H. Guideline for drug therapy in pediatric patients with cardiovascular diseases(JCS 2012)-Digest Version-. Circulation Journal. 2014; 78:507-533

Uemura O, Nagai T, Ishikura K, Ito S, Hataya H, Gotoh Y, Fujita N, Akioka Y, Kaneko T, Honda M. Cystatin C-based equation for estimating glomerular filtration rate in Japanese children and adolescents. Clin Exp Nephrol. 2014;18:718-725

Takagi M, Narumi S, Hamada R, Hasegawa Y, Hasegawa T. A novel KAL1 mutation is associated with combined pituitary hormone deficiency. Human Genome Variation. 2014;1: 14011

Uemura O, Nagai T, Ishikura K, Ito S, Hataya H, Gotoh Y, Fujita N, Akioka Y, Kaneko T, Honda M. Reference glomerular filtration rate levels in Japanese children: using the creatinine and cystatin C based estimated glomerular filtration rate. Clin Exp Nephrol. 2014; Oct 19 [ahead of print]

Yoshino A, Honda M, Sasaki N, Hataya H, Ishikura K, Sakazume S, Tanaka Y, Nagai T. Selection of infants who potentially have congenital anomalies of the kidney and urinary tract from a large cohort for a more thorough examination. Clin Exp Nephrol. 2014,Sep 26 [ahead of print]

Yoshikawa N, Nakazato H, Sasaki S, Nakanishi K, Matsuyama T, Ito S, Hamasaki Y, Yata N, Ando T, Iijima K, Honda M. Morbidity in children with frequently relapsing nephrosis: 10-year follow-up of a randomized controlled trial. Pediatr Nephrol. 2014, Oct 3 [ahead of print]

Kamei K, Nakanishi K, Ito S, Ishikura K, Hataya H, Honda M, Nozu K, Iijima K, Shima Y, Yoshikawa. N. Japanese Pediatric IgA Nephropathy Treatment Group. Risk factors for persistent proteinuria after a 2-year combination therapy for severe childhood IgA nephropathy. Pediatr Nephrol. 2014, Dec 10 [ahead of print]

Kamei K, Nakanishi K, Ito S, Ishikura K, Hataya H, Honda M, Nozu K, Iijima K, Shima Y, Yoshikawa N, Japanese Pediatric IgA Nephropathy Treatment Group. Risk factors for persistent proteinuria after a 2-year combination therapy for severe childhood IgA nephropathy. Pediatr Nephrol. 2015;30: 961-967

Ishikura K, Yoshikawa N, Nakazato H, Sasaki S, Nakanishi K, Matsuyama T, Ito S, Hamasaki Y, Yata N, Ando T, Iijima K, Honda M. Morbidity in Children with Frequently Relapsing Nephrosis: 10-year Follow-up of an RCT. Pediatr Nephrol. 2015;30:459-468

Ishikura K, Matsumoto S, Sako M, Tsuruga K, Nakanishi K, Kamei K, Saito H, Fujinaga S,   Hamasaki Y, Chikamoto H, Ohtsuka Y, Komatsu Y, Ohta T, Nagai T, Kaito H, Kondo S, Ikezumi Y, Tanaka S, Kaku Y, Iijima K. Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy. Clin Exp Nephrol. 2015;19:6-33

Okuda Y, Ishikura K, Hamada R, Harada R, Sakai T, Hamasaki Y, Hataya H, Fukuzawa R, OgataK, Honda M. Membranoproliferative glomerulonephritis and C3 glomerulonephritis: clinical features and outcome in children. Nephrology . 2015;20:286-292

Kaku Y, Ohtsuka Y, Komatsu Y, Ohta T, Nagai T, Kaito H, Kondo S, Ikezumi Y, Tanaka S, Matsumoto S, Sako M, Tsuruga K, Nakanishi K, Kamei K, Saito H, Fujinaga S, Hamasaki Y, Chikamoto H, Ishikura K, Iijima K. Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: general therapy. Clin Exp Nephrol. 2015;19:34-53

Ikezumi Y, Uemura O, Nagai T, Ishikura K, Ito S, Hataya H, Fujita N, Akioka Y, Kaneko T Iijima K, Honda M. Beta-2 microglobulin-based equation for estimating glomerular filtration rates in Japanese children and adolescents. Clin Exp Nephrol. 2015;19:450-457

Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H,  Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T. Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS). Am J Med Genet A. 2015;167A:592-601

Yanagihara T, Hamada R, Ishikura K, Uemura O, Matsuyama T, Takahashi S, Honda M. Urinary screening and urinary abnormalities in 3-year-old children in Japan.Pediatr Int. 2015;57:354-358

Watanabe Y, Yamagata K, Nishi S, Hirakata H, Hanafusa N, Saito C, Hattori M, Itami N, Komatsu Y, Kawaguchi Y, Tsuruya K, Tsubakihara Y, Suzuki K, Sakai K, Kawanishi H, Inaguma D, Yamamoto H, Takemoto Y, Mori N, Okada K, Hataya H, Akiba T, Iseki K, Tomo T, Masakane I, Akizawa T, Minakuchi J; "Hemodialysis Initiation for Maintenance Hemodialysis" Guideline Working Group, Japanese Society for Dialysis Therapy. Japanese society for dialysis therapy clinical guideline for "hemodialysis initiation for maintenance hemodialysis". Ther Apher Dial. 2015;19(Suppl 1):93-107

Awazu M, Hida M. Maternal nutrient restriction inhibits ureteric bud branching but does not affect the duration of nephrogenesis in rats. Pediatr Res. 2015;77:633-639

Awazu M. Epidemiology of hypertension in children. In Pediatric Nephrology, 7th Ed. Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma F, and Goldstein SL Eds. Springer. 2015

Hattori M, Sako M, Kaneko T, Ashida A, Matsunaga A, Igarashi T, Itami N, Ohta T, Gotoh Y, Satomura K, Honda M, Igarashi T. End-stage renal disease in Japanese children: a nationwide survey during 2006-2011. Clin Exp Nephrol. 2015 Jan 17 [Epub ahead of print]
Hamasaki Y, Ishikura K, Uemura O, Ito S, Wada N, Hattori M, Ohashi Y, Tanaka R, Nakanishi K, Kaneko T, Honda M. Growth impairment in children with pre-dialysis chronic kidney disease in Japan. Clin Exp Nephrol. 2015 Feb 26. [Epub ahead of print]

Ito N, Hataya H, Saida K, Amano Y, Hidaka Y, Motoyoshi Y, Ohta T, Yoshida Y, Terano C, Iwasa T, Kubota W, Takada H, Hara T, Fujimura Y, Ito S. Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan. Clin Exp Nephrol. 2015 [Epub ahead of print]

Matsushita S, Ishikura K, Okamoto S, Okuda Y, Nagaoka Y, Harada R, Hamada R, Sakai T, Hamasaki Y, Hataya H, Ando T, Ogata K, Honda M, Long-term morbidity of IgA nephropathy in children evaluated with newly proposed remission criteria in Japan. Clin Exp Nephrol. 2015 [Epub ahead of print]

Hayakawa I, Hataya H, Yamanouchi H, Sakakibara H, Terakawa T. Neonatal Staphylococcus lugdunensis urinary tract infection. Pediatr Int. 2015 Jul 14. [Epub ahead of print]

Uemura O, Nagai T, Ishikura K, Ito S, Honda M. Mean and standard deviation of reference glomerular filtration rate values in Japanese children. Clin Exp Nephrol. 2015 Jul 31. [Epub ahead of print]

Shapiro AD, Ragni MV, Kulkarni R, Oldenberg J, Srivastava A, Quon DV, Pasi KJ, Hanabusa H, Pabinger I, Mahlangu J, Fogarty P, Lillicrap D, Kulke S, Potts J, Neelakantan S, Nestorov I, Li S, Dumont JA, Jiang H, Brennan A, Pierce GF. Recombinant factor VIII Fc fusion protein: extended-interval dosing maintains low bleeding rates and correlates with von Willebrand factor levels. J Thromb Haemost. 2014;12:1788-800

Yamazaki F, Osumi T, Shigematsu N, Morioka H, Shimada H. Successful treatment of metastatic rhabdomyosarcoma with radiochemotherapy and allogeneic hematopoietic stem cell transplantation. Jpn J Clin Oncol. 2015;45:225-8

Kobayashi R, Sunami S, Mitsui T, Nakazawa A, Koga Y, Mori T, Tanaka F, Ueyama J, Osumi T, Fukano R, Ohki K, Sekimizu M, Mori T; Lymphoma Committee; Japanese Pediatric Leukemia/Lymphoma Study Group. Treatment of pediatric lymphoma in Japan: Current status and plans for the future. Pediatr Int. 2015;57:523-34

Manabe A, Kawasaki H, Shimada H, Kato I, Kodama Y, Sato A, Matsumoto K, Kato K, Yabe H, Kudo K, Kato M, Saito T, Saito AM, Tsurusawa M, Horibe K. Imatinib use immediately before stem cell transplantation in children with Philadelphia chromosome-positive acute lymphoblastic leukemia: Results from Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) Study Ph+ALL04. Cancer Med. 2015;4:682-9

Gocho Y, Kiyokawa N, Ichikawa H, Nakabayashi K, Osumi T, Ishibashi T, Ueno H, Terada K, Oboki K, Sakamoto H, Shioda Y, Imai M, Noguchi Y, Arakawa Y, Kojima Y, Toyama D, Hata K, Yoshida T, Matsumoto K, Kato M, Fukushima T, Koh K, Manabe A, Ohara A; from the Tokyo Children's Cancer Study Group. A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia. Leukemia. 2015 [Epub ahead of print]

Nolan B, Mahlangu J, Perry D, Young G, Liesner R, Konkle B, Rangarajan S, Brown S, Hanabusa H, Pasi KJ, Pabinger I, Jackson S, Cristiano LM, Li X, Pierce GF, Allen G. Long-term safety and efficacy of recombinant factor VIII Fc fusion protein (rFVIIIFc) in subjects with haemophilia A. Haemophilia. 2015 [Epub ahead of print]

Nagao A, Oka T, Hanabusa H. Switching to low dose of plasma-derived factor VIII/vWF concentrates with Confact® -F as salvage immune tolerance induction in haemophilia A patients with inhibitors: five case reports from Japan. Haemophilia. 2015 [Epub ahead of print]

Takenouchi T, Tsukahara Y, Horikawa R, Kosaki K, Kosaki R. Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency. Am J Med Genet. 2014;164:2679-81

Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K. The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. Genet Test Mol Biomarkers. 2014;18:722-35

Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. KIF1A mutation in a patient with progressive neurodegeneration. J Hum Genet. 2014;59:639-641

Uehara T, Nakadai E, Yoshina S, Imae R, Mitani S. The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway. PLoS Genetics. 2014;e1004921

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K. Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.Clin Genet. 2015;88:288-292

Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M.Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.Childs Nerv Syst. 2015;31:465-471

Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev. 2015;37:515-526.

Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M. Primary Microcephaly With Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM.Pediatr Neurol. 2015;52:e7-e8

Horibata K, Kono S, Ishigami C, Zhang X, Aizawa M, Kako Y, Ishii T, Kosaki R, Saijo M, Tanaka K.Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS. J Hum Genet. 2015;60:259-65

Strogantsev R, Krueger F, Yamazawa K, Shi H, Gould P, Goldman-Roberts M, McEwen K, Sun B, Pedersen R, Ferguson-Smith AC. Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression. Genome Biol. 2015;16:112.

Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, Kim OH, Kosuga M, Kwun YH, Inwood A, Lin HY, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP. Overcoming the barriers to diagnosis of Morquio A syndrome.Orphanet J Rare Dis. 2014:30;9:192

Niizeki H, Shiohama A, Sasaki T, Seki A, Kabashima K, Otsuka A, Kosaki K, Ogo A, Yamada T, Miyasaka M, Matsuoka K, Hirakiyama A, Okuyama T, Matsuda M, Nakabayashi K, Tanese K, Ishiko A, Amagai M, Kudoh J. The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.J Dermatol Sci. 2014;75:193-195

Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Mol Genet Metab. 2015;115:41-47

Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators, Yang K, Mealiffe M, Haller C, Al-Sayed MD, Ben-Omran T, Bober MB, Burton BK, Cleary MA, Dali CI, de Medeiros PF, Giugliani R, Guelbert NB, Guffon N, Harmatz P, Hendriksz CJ, Hiwot TG, Hughes DA, Jin DK, Jones SA, Lin SP, Maranda B, Mitchell JJ, Murphy EM, Muschol N, Okuyama T, Parini R, Pastores GM, Raiman JA, Santra S, Villarreal ML, Steiner R, Tanpaiboon P, Valayannopoulos V, dos Santos Baptista Garcia Matos PC, Vellodi A, White KK, Wijburg FA. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114:178-185

Unno H, Futamura K, Morita H, Kojima R, Arae K, Nakae S, Ida H, Saito H, Matsumoto K, Matsuda A. Silica and Double-Stranded RNA Synergistically Induce Bronchial Epithelial Apoptosis and Airway Inflammation. Am J Respir Cell Mol Biol. 2014;51:344-353

Morita K, Horimukai K, Narita M, Kondo M, Kitazawa H, Nozaki M, Shigematsu Y, Yoshida K, Niizeki H, Motomura K, Sago H, Takimoto T, Inoue E, Kamemura N, Kido H, Hisatsune J, Sugai M, Murota H, Katayama I, Sasaki T, Amagai M, Morita H, Matsuda A, Matsumoto K, Saito H, Ohya Y. Application of Moisturizer to Neonate Prevents Development of Atopic Dermatitis. J Allergy Clin Immunol. 2014;134:824-830

Stanic B, van de Veen W, Wirz O, Rückert B, Morita H, Söllner S, Akdis CA, Akdis M. IL-10-overexpressing B cells regulate innate and adaptive immune responses. J Allergy Clin Immunol. 2015;13:771-780

Horimukai K, Hayashi K, Tsumura Y, Nomura I, Narita M, Ohya Y, Saito H, Matsumoto K. Total serum IgE level influences oral food challenge tests for IgE-mediated food allergies. Allergy. 2015;70:334-337

Morita H, Arae K, Unno H, Toyama S, Motomura K, Matsuda A, Suto H, Okumura K, Sudo K, Takahashi T, Saito H, Matsumoto K, Nakae S. IL-25 and IL-33 contribute to development of eosinophilic airway inflammation in epicutaneously antige-sensitized mice. PLoS One. 2015;10:e0134226

Morita H, Arae K, Unno H, Miyauchi K, Toyama S, Nambu A, Oboki K, Ohno T, Motomura K, Matsuda A, Yamaguchi S, Narushima S, Kajiwara N, Iikura M, Suto H, McKenzie AN, Takahashi T, Karasuyama H, Okumura K, Azuma M, Moro K, Akdis CA, Galli SJ, Koyasu S, Kubo M, Sudo K, Saito H, Matsumoto K, Nakae S. An interleukin-33-mast cell-interleukin-2 axis suppresses papain-induced allergic inflammation by promoting regulatory T cell numbers. Immunity. 2015;43:175-186

Ozyigit LP, Morita H, Akdis M. Innate lymphocyte cells in asthma phenotypes. Clin Transl Allergy. 2015;5:23

Agache I, Sugita K, Morita H, Akdis M, Akdis CA. The complex type 2 endotype in allergy and asthma: from laboratory to bedside. Curr Allergy Asthma Rep. 2015;15:529

Shoda T, Morita H, Nomura I, Ishimura N, Ishihara S, Matsuda A, Matsumoto K, Kinoshita Y. Comparison of gene expression profiles in eosinophilic esophagitis (EoE) between Japan and Western countries. Allergol Int. 2015;64:260-265