研究業績

Publications 2014 (Oct. 2013 - Sept. 2014)

Furuichi M, Imajo E, Sato Y, Tanno S, Kawada M, Sato S. Characteristics of Clostridium difficile colonization in Japanese children. J Infect Chemother. 2014;20:307-11

Yamada M (Masaki), Kamberos N, Grose C. Breakthrough varicella in a cancer patient with persistent varicella antibody after one varicella vaccination. J Pediatr. 2013;163:1511-1513

Shinjoh M, Iwata S, Yagihashi T, Sato Y, Akita H, Takahashi T, Sunakawa K. Recent trends in pediatric bacterial meningitis in Japan - A country where Haemophilus influenzae type b and Streptococcus pneumoniae conjugated vaccines have just been introduced. J Infect Chemother. 2014;20:477-83

Yui I, Fujino M, Sawada A, Nakayama T. Novel clinical features of recurrent human respiratory syncytial virus infections. J Med Virol. 2014;86:1629-1638

Iwata S, Nakata S, Ukae S, Koizumi Y, Morita Y, Kuroki H, Tanaka Y, Shizuya T, Schödel F, Brown ML, Lawrence J.: Efficacy and safety of pentavalent rotavirus vaccine in Japan: A randomized, double-blind, placebo-controlled, multicenter trial. Hum Vaccin Immunother. 2013;9:1626-1633

Takei T, Morozumi M, Ozaki H, Fujita H, Ubukata K, Kobayashi I, Kadota K, Miyamae T, Yokota S, Iwata S, Takahashi T. Clinical Features of Mycoplasma pneumoniae Infections in the 2010 Epidemic Season: Report of Two Cases with Unusual Presentations. Pediatr Neonatol. 2013;54:402-405

Jackson W, Yamada M (Masaki), Moninger T, Grose C. Visualization and quantitation of abundant macroautophagy in virus-infected cells by confocal three-dimensional fluorescence imaging. J Virol Methods. 2013;193:244-250

Takeda K, Kawai T, Nakazawa Y, Komuro H, Shoji K, Morita K, Katsuta T, Yamamoto M, Miyairi I, Ohya Y, Ishiguro A, Onodera M. Augmentation of antitubercular therapy with IFNγ in a patient with dominant partial IFNγ receptor 1 deficiency. Clin Immunol. 2014;151:25-28
Ikeno S, Suzuki MO, Muhsen M, Ishige M, Kobayashi-Ishihara M, Ohno S, Takeda M, Nakayama T, Morikawa Y, Terahara K, Okada S, Takeyama H, Tsunetsugu-Yokota Y. Sensitive detection of measles virus infection in the blood and tissues of humanized mouse by one-step quantitative RT-PCR. Front Microbiol. 2013;4:298

Kashiwagi Y, Miyata A, Kumagai T, Maehara K, Suzuki E, Nagai T, Ozaki T, Nishimura N, Okada K, Kawashima H, Nakayama T. Production of inflammatory cytokines in response to diphtheria-pertussis-tetanus (DPT), Haemophilus influenzae type b (Hib), and 7-valent pneumococcal (PCV7) vaccines. Human vaccine & Immunother. 2014;10:677-685

Kashiwagi Y, Maeda M, Kawashima H, Nakayama T. Inflammatory responses following intramuscular and subcutaneous immunization with aluminum-adjuvanted or non-adjuvanted vaccines. Vaccine. 2014; 32: 3393-3401

Yamaji Y, Nakayama T. Recombinant measles viruses expressing respiratory syncytial virus proteins induced virus-specific CTL responses in cotton rats. Vaccine. 2014; 32: 4529-4536
 
Kumagai T, Yoshikawa T, Shiraki K, Yoshida M, Nakayama T, Ihira M, Asano Y. Virus specific cell-mediated immunity may play a role in controlling reactivated human herpes virus 6B in patients under measles induced immunosuppression. J Med Virol. 2014;86: 658-665

Chiba N, Morozumi M, Shouji M, Wajima T, Iwata S, Ubukata K. Invasive Pneumococcal Diseases Surveillance Study Group.: Changes in capsule and drug resistance of Pneumococci after introduction of PCV7, Japan, 2010-2013. Emerg Infect Dis. 2014;20:1132-1139

Morita A, Kamei S, Minami M, Yoshida K, Kawabata S, Kuroda H, Suzuki Y, Araki N, Iwasaki Y, Kobayashi R, Hayashi N, Hirayama T, Ochiai J, Ueda M, Yamagishi Y, Niwa J, Shindo K, Fukushima Y, Takita T, Sato T, Sato S, Mikamo H, Iwata S. Open-label study to evaluate the pharmacodynamics, clinical efficacy, and safety of meropenem for adult bacterial meningitis in Japan. J Infect Chemother. 2014;20:535-540

Namkoong H, Kameyama Y, Yasuda H, Nakayama S, Kaneko H, Kawashima C, Terajima T, Maezawa K, Hayashi T, Sandoh M, Ishii M, Tasaka S, Kanayama A, Kobayashi I, Betsuyaku T, Kizu J, Iwata S, Sato Y, Hasegawa N. The efficacy, safety, and pharmacokinetics of biapenem administered thrice daily for the treatment of pneumonia in the elderly. J Infect Chemother. 2014;20:356-360

Kawajiri H, Aeba R, Takaki H, Yozu R, Iwata S. Negative pressure therapy for post-sternotomy wound infections in young children. Interact Cardiovasc Thorac Surg. 2014;19:102-106

Morozumi M, Shimizu H, Matsushima Y, Mitamura K, Tajima T, Iwata S, Ubukata K. Evaluation of new immunochromatographic assay kit for adenovirus detection in throat swab: comparison with culture and real-time PCR results. J Infect Chemother. 2014;20:303-306

Wajima T, Morozumi M, Chiba N, Shouji M, Iwata S, Sakata H, Ubukata K. Associations of macrolide and fluoroquinolone resistance with molecular typing in Streptococcus pyogenes from invasive infections, 2010-2012. Int J Antimicrob Agents. 2013;42:447-449

Morozumi M, Wajima T, Kuwata Y, Chiba N, Sunaoshi K, Sugita K, Sakata H, Iwata S, Ubukata K. Associations between capsular serotype, multilocus sequence type, and macrolide resistance in Streptococcus agalactiae isolates from Japanese infants with invasive infections. Epidemiol Infect. 2014;142:812-819

Karigane D, Takaya S, Seki Y, Mastumoto Y, Onose A, Kosakai A, Sugaya N, Mori T. Cytomegalovirus enteritis in immunocompetent subjects: a case report and review of the literature. J Infect chemother. 2014;20:325-329

Fukushima H, Mitsuhashi T, Oto T, Sano Y, Fukushima-Kusano K, Goto K, Okazaki M, Date H, Kojima Y, Yamagishi H, Takahashi T. Successful lung transplantation in a case with diffuse pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Am J Transplant. 2013;13:3278-3281

Kojima K, Sato A, Yamashita Y, Ishihara J, Aoyagi H, Okishige K. Young athlete with sudden cardiac arrest treated with therapeutic hypothermia. Pediatr Int. 2013;55:e123-e125

Sallam K, Kodo K, Wu JC. Modeling inherited cardiac disorders. Circ J. 2014;78:784-94

Huber BC, Ransohoff JD, Ransohoff KJ, Riegler J, Ebert A, Kodo K, Gong Y, Sanchez-Freire V, Dey D, Kooreman NG, Diecke S, Zhang WY, Odegaard J, Hu S, Gold JD,  Robbins RC, Wu JC. Costimulation-adhesion blockade is superior to cyclosporine A and prednisone immunosuppressive therapy for preventing rejection of differentiated human embryonic stem cells following transplantation. Stem Cells. 2013;31:2354-63

Yasuhara J, Yamada Y, Hara K, Suhara R, Hattori Y, Yamaguchi T, Mizuno Y, Kizu R, Bamba M. Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns. Pediatr Int. 2014;56:258-261

Mitani Y, Ohta K, Ichida F, Nii M, Arakaki Y, Ushinohama H, Takahashi T(Tsutomu), Ohashi H, Yodoya N, Fujii E, Ishikura K, Tateno S, Sato S, Suzuki T, Higaki T, Iwamoto M, Yoshinaga M, Nagashima M, Sumitomo N. Circumstances and outcomes of out-of-hospital cardiac arrest in elementary and middle school students in the era of public-access defibrillation. Circ J. 2014;78:701-707

Muraoka N, Yamakawa H, Miyamoto K, Sadahiro T, Umei T, Isomi M, Nakashima H, Akiyama M, Wada R, Inagawa K, Nishiyama T, Kaneda R, Fukuda T, Takeda S, Tohyama S, Hashimoto H, Kawamura Y, Goshima N, Aeba R, Yamagishi H, Fukuda K, Ieda M. MiR-133 promotes cardiac reprogramming by directly repressing Snai1 and silencing fibroblast signatures. EMBO J. 2014;33:1565-1581

Yamagishi H. Lessons from Heart Development to Regeneration. In: Cardiac Regeneration using ES and iPS Cells (eds) Fukuda K, Yuasa S. Science Publishers, Florida, 2013, p.59-83

Yamagishi H, Yamagishi C. Embryology. In: Cardiac CT and MR for Adult Congenital Heart Disease (ed) Saremi F. Springer, 2014, p.7-21

Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz JM, Deladoëy J, Samuels M, Ogata T, Deal C. 46,XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Clin Genet. 2012;82:505-513

Fukami M, Shozu M, Ogata T. Molecular bases and phenotypic determinations of aromatase excess syndrome. Int J Endocrinol. 2012;2012: 584807
 
Fukami M, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Burger H, Simpson ER, Umezawa A, Shihara D, Nakabayashi K, Bulun SE, Shozu M, Ogata T. Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression. J Clin Endocrinol Metab. 2013;98:E2013-2021

Uchida K, Matsuo N, Hori N, Hasegawa T, Takahashi T. Spousal choice by height in as urban middle-class Japanese population. Hum Biol. 2013;85:619-621

Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishiura G, Hasegawa T. A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V with broad phenotypic spectrum. Am J Med Genet A. 2013;161A:1980-1982

Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T. A 2.0 Mb microdeletion in proximal chro
mosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum. Eur J Med Genet. 2013;56:526-528

Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K. Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis. FASEB J. 2013;27:3198-3208

Vasques GA, Amano N, Quedas EPS, Docko AJ, Funari MF, Nishi MY, Arnhold IJP, Hasegawa T, Jorge AA. Heterozygous mutations in natriuretic peptide receptor-B gene (NPR2) as a cause of idiopathis short stature. J Clin Endocrinol Metab. 2013;98:E1636-1644

Sekii K, Itoh H, Ogata T, Iwashima S. Possible contribution of fetal size and gestational age to myocardial tissue: Doppler velocities in preterm fetuses. Eur J Obstet Gynecol Reprod Biol. 2013;167:121

Sugiura H, Kouwaki M, Kato T, Ogata T, Sakamoto R, Ieshima A, Yokochi K. Magnetic resonance imaging in neonates with total asphyxia. Brain Dev. 2013;35:53-60

Nishina-Uchida N, Fukuzawa R, Numakura C, Suwanai A, Hasegawa T, Hasegawa Y. Characteristic testicular histology is useful for the identification of NR5A1 gene mutation in prepubertal 46,XY patients. Hor Res Paediatr. 2013;80:119-128

Hayashi M, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H. A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. Tohoku J Exp Med. 2013;231:75-84

Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T. IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clin Endocrinol. 2013;80:706-713

Kondo E, Nakamura A, Homma K, Hasegawa T, Yamaguchi T, Narugami T, Aoyagi H, Ishizu K, Tajima T. Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1. Endocrine J. 2013;60:51-55

Hamasaki H, Mukaino T, Kaneko H, Mitsui T, Moriyama S, Hasegawa T, Yanai H. Pseudopseudohypoparathyroidism with a novel mutation in the GNAS gene showing thin bones of extremities and ossification of enthuses. J Endocrinol Metab. 2013;3:150-152

Adachi M, Asakura Y, Muroya K, Goto H, Kigasawa H. Abnormal adipose tissue distribution with unfavorable metabolic profile in five children following hematopoietic stem cell transplantation: a new etiology for acquired partial lipodystrophy. Clin Pediatr Endocrinol. 2013;22:53-64

Adachi M, Tajima T, Muroya K, Asakura Y. Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report. J Med Case Rep. 2013;7:283

Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T. Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development. Endocr J. 2013;60:1329-34

Matsumoto T, Miyakoshi K, Saisho Y, Ishii T, Ikenoue S, Kasuga Y, Kadohira I, Sato S, Momotani N, Minegishi K, Yoshimura Y. Antenatal management of recurrent fetal goitrous hyperthyroidism associated with fetal cardiac failure in a pregnant woman with persistent high levels of thyroid-stimulating hormone receptor antibody after ablative therapy. Endocr J. 2013;60:1281-1287

Rapaport R, Saenger P, Schmidt H, Hasegawa Y, Colle M, Loche S, Marcantonio S, Bonfig W, Zabransky M, Lifshitz F.Validation and ease of use of a new pen device for self-administration of recombinant human growth hormone: results from a two-center usability study. Medical devices. 2013;6:141-146

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N: MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 2013;161: 2234-2243

Ohishi A, Ueno D, Ogata T: Glucose-6-phosphate dehydrogenase deficiency and adrenal hemorrhage in a Filipino neonate with hyperbilirubinemia. AJP Rep. 2013;3: 5-8

Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M. Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. PLoS One. 2013;8:e68194

Fujisawa Y, Yamaguchi R, Nagata E, Satake E, Sano S, Matsushita R, Kitsuta K, Nakashima S, Nakanishi T, Nakagawa Y, Ogata T. The lipid fraction of human milk initiates adipocyte differentiation in 3T3-L1 cells. Early Hum Dev. 2013;89:713-719.

Fujisawa Y, Yamaguchi R, Satake E, Ohtaka K, Nakanishi T, Ozono K, Ogata T: Identification of AP2S1 Mutation and Effects of Low Calcium Formula in an Infant with Hypercalcemia and Hypercalciuria. J Clin Endocrinol Metab. 2013;98:E2022-2027

Matsubara K, Ogata T. Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. J Hum Genet. 2013;58: 118-119

Fukami M, Suzuki J, Nakabayashi K, Tsunasima R, Ogata T, Shozu M, Noguchi S. Lack of Genomic Rearrangements Involving the Aromatase Gene CYP19A1 Breast Cancer. Breast Cancer. 2014;21:382-385

Kuwahara E, Asakura K, Nishiwaki Y, Komatsu H, Nakawaza A, Ushiku H, Maejima F, Nishigaki Y, Hasegawa T, Okamura T, Takebayashi T. Steeper increases in body-mass index during childhood correlate with blood pressure elevation in adolescence: a long-term follow-up study in a Japanese community. Hypertension Res. 2014;37:179-184

Sato T, Muroya K, Hanakawa J, Asakura Y, Aida N, Tomiyasu M, Tajima G, Hasegawa T, Adachi M. Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis. Pediatr Int. 2014;56:112-115

Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. Hor Res Paediatr. 2014;81:133-138

Iwasaki Y, Suganami T, Hachiya R, Shirakawa I, Kim-Saijo M, Tanaka M, Hamaguchi M, Takai-Igarashi T, Nakai M, Miyamoto Y, Ogawa Y. Activating transcription factor 4 links metabolic stress to interleukin-6 expression in macrophages. Diabetes. 2014;63:152-161

Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Yanase T. Prognosis of primary aldosteronism in Japan:results from a nationwide epidemiological study. Endocrine J. 2014;61:35-40

Inokuchi M, Matsuo N, Takayama JI, Hasegawa T. Trends in thin body stature among Japanese male adolescents, 2003 to 2012. Ann Hum Biol. 2014;41:277-281

Amano N, Mukai T, Iyo Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T. Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. J Clin Endocrinol Metab. 2014;99:E713-F718

Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. J Hum Genet. 2014;59:353-356

Kitaoka T, Miyoshi Y, Namba N, Miura K, Kubota T, Ohata Y, Fujiwara M, Takagi M, Hasegawa T, Juppner H, Ozono K. Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature. Eur J Pediatr. 2014;173:799-804

Sasaki G, Zubair M, Ishii T, Mitsui T, Hasegawa T, Auchus RJ. The contribution of serine 194 phosphorylation to steroidogenic acute regulatory protein function. Mol Endocrinol. 2014;28:1088-1096
Tanaka T, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Yokoya S, Chihara K, Iwamoto N, Seino Y. Effect of growth hormone treatment on quality of life in Japanese children with growth horomone deficiency: An analysis from a prospective observational study. Clin Pediatr Endocrinol. 2014;23:83-92

Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M. Skeletal deformity associated with SHOX deficiency. Clin Pediatr Endocrinol. 2014;23:65-72

Fukami M, Miyado M, Nagasaki K, Shozu M, Ogata T. Aromatase excess syndrome: A rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia. Pediatr Endocrinol Rev. 2014;11:298-305

Inui M, Miyado M, Igarashi M, Tamano M, Kubo A, Yamashita S, Asahara H, Fukami M, Takada S. Rapid generation of mouse models with defined point mutations by the CRISPR/Cas9 system. Sci Rep. 2014;4:5396

Shihara D, Miyado M, Nakabayashi K, Shozu M, Ogata T, Nagasaki K, Fukami M. Aromatase excess syndrome in a family with upstream deletion of CYP19A1. Clin Endocrinol. 2014;81:314-316

Tsuchiya T, Shibata M, Numabe H, Jinno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M. Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of Langer mesomelic dysplasia. Am J Med Genet. 2014;164A:505-510

Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M. Long term follow up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. Am J Med Genet A. 2014;164A:731-5

Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M. De Novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency. Horm Res Paediatr. 2014;81:139-144

Saito R, Yamamoto Y, Goto M, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K, Igarashi M, Fukami M. Tamoxifen Treatment for Pubertal Gynecomastia in Two Siblings with Partial Androgen Insensitivity Syndrome. Horm Res Pediatr. 2014;81:211-216

Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N. Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder. Endocr J. 2014;61:629-33

Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y. TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia. PLoS One. 2014;9:e91598

Ohishi A, Nakashima S, Ogata T, Iijima S: Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn's disease. J Perinatol. 2014;34:636-639

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

Shozu M, Fukami M, Ogata T: Understanding the pathological manifestations of aromatase excess syndrome: lessons for the clinic. Exp Rev Endocrinol Metab. 2014 9:397-409

Kojima K, Brown EC, Matsuzaki N, Rothermel R, Fuerst D, Shah A, Mittal S, Sood S, Asano E. Gamma activity modulated by picture and auditory naming tasks: intracranial recording in patients with focal epilepsy. Clin Neurophysiol. 2013;124:1737-44

Kojima K, Brown EC, Matsuzaki N, Asano E. Animal category-preferential gamma-band responses in the lower- and higher-order visual areas: intracranial recording in children. Clin Neurophysiol. 2013;124:2368-77

Uematsu M, Matsuzaki N, Brown EC, Kojima K, Asano E. Human occipital cortices differentially exert saccadic suppression: Intracranial recording in children. Neuroimage. 2013;83:224-36

Miyakoshi M, Delorme A, Mullen T, Kojima K, Makeig S, Asano E. Automated detection of cross-frequency coupling in the electrocorticogram for clinical inspection. Conf Proc IEEE Eng Med Biol Soc. 2013;2013:3282-5

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. 2014 Apr 18. [Epub ahead of print]

Toyoda G, Brown EC, Matsuzaki N, Kojima K, Nishida M, Asano E. Electrocorticographic correlates of overt articulation of 44 English phonemes: intracranial recording in children with focal epilepsy. Clin Neurophysiol. 2014;125:1129-37

Mochida GH, Chugani H. Studying rare genetic disorders in child neurology--the need for an international network of collaboration. Dev Med Child Neurol. 2014;56:412

Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013;81:1378-86

Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014;23:3456-66

Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014;94:547-58

Matsuda S, Kakegawa W, Budisantoso T, Nomura T, Kohda K, Yuzaki M. Stargazin regulates AMPA receptor trafficking through adaptor protein complexes during long-term  depression. Nat Commun. 2013;4:2759

He Q, NomuraT, Xu J, Contractor A. The developmental switch in GABA polarity is delayed in fragile X mice. J Neurosci. 2014;34:446-50

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

Sánchez Fernández I, Peters JM, An S, Bergin AM, Takeoka M, Rotenberg A, Kothare SV, Riviello JJ Jr, Loddenkemper T. Long-term response to high-dose diazepam treatment in continuous spikes and waves during sleep. Pediatr Neurol. 2013;49:163-170

Harini C, Singh K, Takeoka M, Parulkar I, Bergin AM, Loddenkemper T, Kothare SV. Predictors of seizure occurrence in children undergoing pre-surgical monitoring. Seizure. 2013;22:640-6
Wintermark P, Lechpammer M, Warfield SK, Kosaras B, Takeoka M, Poduri A, Madsen JR, Bergin AM, Whalen S, Jensen FE. Perfusion Imaging of Focal Cortical Dysplasia Using Arterial Spin Labeling: Correlation With Histopathological Vascular Density. J Child Neurol. 2013;28:1474-1482

Taimouri V, Akhondi-Asl A, Tomas-Fernandez X, Peters JM, Prabhu SP, Poduri A, Takeoka M, Loddenkemper T, Bergin AM, Harini C, Madsen JR, Warfield SK. Electrode localization for planning surgical resection of the epileptogenic zone in pediatric epilepsy. Int J Comput Assist Radiol Surg. 2014;9:91-105

Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014;75:943-58

Klehm J, Thome-Souza S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Kadish NE, Libenson M, Peters J, Poduri A, Rotenberg A, Takeoka M, Bourgeois B, Loddenkemper T. Clobazam: effect on frequency of seizures and safety profile in different subgroups of children with epilepsy. Pediatr Neurol. 2014;51:60-6
 
Thome-Souza S, Kadish NE, Ramgopal S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Libenson M, Olson H, Peters J, Poduri A, Rotenberg A, Takeoka M, Kothare SV, Kapur K, Bourgeois BF, Loddenkemper T. Safety and retention rate of rufinamide in 300 patients: A single pediatric epilepsy center experience. Epilepsia. 2014;55:1235-44

Tarui T, Limperopoulos C, Sullivan NR, Robertson RL, du Plessis AJ. Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia. Arch Dis Child Fetal Neonatal Ed. 2014;99:F54-8
 
Kitamura Y, Hara K, Tsunematsu K. Isolated superficial sylvian vein thrombosis with long cord sign: case report and review of the literature. Neurol Med Chir (Tokyo). 2014;54:253-9
 
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Shishido S, Satou H, Muramatsu M, Hamasaki Y, Ishikura K, Hataya H, Honda M, Asanuma H, Aikawa A. Combination of pulse methylprednisolone infusions with cyclosporine-based immunosuppression is safe and effective to treat recurrent focal segmental glomerulosclerosis after pediatric kidney transplantation. Clin Transplant.
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Yata N, Uemura O, Honda M, Matsuyama T, Ishikura K, Hataya H, Nagai T, Ikezumi Y, Fujita N, Ito S, Iijima K, Saito M, Kaneko T, Kitagawa T. Reference ranges for serum cystatin C measurements in Japanese children by using 4 automated assays. Clin Exp Nephrol. 2013; 17: 872-876

Nagaoka Y, Ishikura K, Hamada R, Miyagawa T, Kono T, Sakai T, Hamasaki Y, Hataya H, Honda M. Severe posterior reversible encephalopathy syndrome rescued with craniectomy. Pediatr Int. 2013; 55: 644-646

Nagai T, Uemura O, Ishikura K, Ito S, Hataya H, Gotoh Y, Fujita N, Akioka Y, Kaneko T, Honda M. Creatinine-based equations to estimate glomerular filtration rate in Japanese children aged between 2 and 11 years old with chronic kidney disease. Clin Exp Nephrol. 2013; 17: 877-881

Ishikura K, Uemura O, Ito S, Wada N, Hattori M, Ohashi Y, Hamasaki Y, Tanaka R, Nakanishi K, Kaneko T, Honda M. Pre-dialysis chronic kidney disease in children: results of a nationwide surbey in Japan. Nephrol Dial Transplant. 2013; 28: 2345-2355

Hattori M, Uemura O, Hataya H, Ito S, Hisano M, Ohta T, Fujinaga S, Kise T, Gotoh Y, Matsunaga A, Ito N, Akizawa T. Efficacy and safety of darbepoetin alfa for anemia in children with chronic kidney disease: a multicenter prospective study in Japan. Clin Exp Nephrol. 2013. 9. [Epub ahead of print]

Honda M, Iijima K, Ishikura K, Kaneko K. The problem of transition from pediatric to adult healthcare in patients with steroid-sensitive nephrotic syndrome (SSNS): a survey of the experts. Clin Exp Nephrol. 2014Feb 2 [Epub ahead of print]

Ishikura K, Uemura O, Hamasaki Y, Ito S, Wada N, Hattori M, Ohashi Y, Tanaka R, Nakanishi K, Kaneko T, Honda M. Progression to end-stage kidney disease in Japanese children with chronic kidney disease: results of a nationwide prospective cohort study. Nephrol Dial Transplant. 2014; 29: 878-884
 
Iijima K, Sako M, Oba MS, Ito S, Hataya H, Tanaka R, Ohwada Y, Kamei K, Ishikura K, Yata N, Nozu K, Honda M, Nakamura H, Nagata M, Ohashi Y, Nakanishi K, Yoshikawa N. Cyclosporine C2 monitoring for the treatment of frequently relapsing nephrotic syndrome in children: a multicenter randomized phase II trial. Clin J Am Soc Nephrol. 2014; 9: 271-278

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. 2014. 8. [Epub ahead of print]

Kawaguchi E, Ishikura K, Hamada R, Nagaoka Y, Morikawa Y, Sakai T, Hamasaki Y, Hataya H, Noda E, Miura M, Ando T, Honda M. Early and frequent development of ocular hypertension in children with nephrotic syndrome. Pediatr Nephrol. 2014. 5. [Epub ahead of print]

Yoshikawa N, Nakanishi K, Sako M, Oba MS, Mori R, Ota E, Ishikura K, Hataya H, Honda M, Ito S, Shima Y, Kaito H, Nozu K, Nakamura H, Igarashi T, Ohashi Y, Iijima K.
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Sawai T, Nangaku M, Ashida A, Fujimaru R, Hataya H, Hidaka Y, Kaname S, Okada H, Sato W, Yasuda T, Yoshida Y, Fujimura Y, Hattori M, Kagami S. Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society. Pediatr Int. 2014; 56: 1-5

Uemura O, Hattori M, Hataya H, Ito S, Ito N, Akizawa T. Pharmacokinetics of darbepoetin alfa after single, intravenous or subcutaneous administration in Japanese pediatric patients with chronic kidney disease. Clin Exp Nephrol. 2014. 2. [Epub ahead of print]

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Sawai T, Nangaku M, Ashida A, Fujimaru R, Hataya H, Hidaka Y, Kaname S, Okada H, Sato W, Yasuda T, Yoshida Y, Fujimura Y, Hattori M, Kagami S. Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society. Clin Exp Nephrol. 2014; 18: 4-9
 
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. 7. [Epub ahead of print]

Sekine T, Komoda F, Miura K, Takita J, Shimadzu M, Matsuyama T, Ashida A, Igarashi T: Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. Nephrol Dial Transplant 2014; 29:376-384

Yamazaki F, Nakazawa A, Osumi T, Shimojima N, Tanaka T, Nakagawara A, Shimada H. Two cases of neuroblastoma comprising two distinct clones. Pediatr Blood Cancer. 2014; 61:760-762

Kiyokawa N, Iijima K, Tomita O, Miharu M, Hasegawa D, Kobayashi K, Okita H, Kajiwara M, Shimada H, Inukai T, Makimoto A, Fukushima T, Nanmoku T, Koh K, Manabe A, Kikuchi A, Sugita K, Fujimoto J, Hayashi Y, Ohara A. Significance of CD66c expression in childhood acute lymphoblastic leukemia. Leuk Res. 2014; 38:42-48

Osumi T, Miharu M, Saji H, Kusunoki Y, Kojima H, Nakamura J, Shimada H. Nonsense mutation in HLA-B*40:02 in a case with acquired aplastic anaemia: a possible origin of clonal escape from autoimmune insult. Br J Haematol. 2013; 162: 706-7

Tomita O, Iijima K, Ishibashi T, Osumi T, Kobayashi K, Okita H, Saito M, Mori T, Shimizu T, Kiyokawa N. Sensitivity of SNX2-ABL1 toward tyrosine kinase inhibitors distinct from that of BCR-ABL1. Leuk Res. 2014; 38:361-70

Masuzawa A, Kiyotani C, Osumi T, Shioda Y, Iijima K, Tomita O, Nakabayashi K, Oboki K, Yasuda K, Sakamoto H, Ichikawa H, Hata K, Yoshida T, Matsumoto K, Kiyokawa N, Mori T. Poor responses to tyrosine kinase inhibitors in a child with precursor B-cell acute lymphoblastic leukemia with SNX2-ABL1 chimeric transcript. Eur J Haematol. 2014; 92:263-7

Satomi K, Yoshida M, Matsuoka K, Okita H, Hosoya Y, Shioda Y, Kumagai M, Mori T, Morishita Y, Noguchi M, Nakazawa A. Myelopathy mimicking subacute combined degeneration in a Down syndrome patient with methotrexate treatment for B lymphoblastic leukemia: Report of an autopsy case. Neuropathology. 2014; 34:414-9

Tsurusawa M, Mori T, Kikuchi A, Mitsui T, Sunami S, Kobayashi R, Takimoto T, Saito A, Watanabe T, Fujimoto J, Nakazawa A, Ohshima K, Horibe K; lymphoma committee of Japanese Pediatric Leukemia/Lymphoma Study Group. Improved treatment results of children with B-cell non-Hodgkin lymphoma: a report from the Japanese Pediatric Leukemia/Lymphoma Study Group B-NHL03 study. Pediatr Blood Cancer. 2014; 61:1215-21

Akiyama K, Koh K, Mori M, Sekinaka Y, Seki M, Arakawa Y, Hayashi M, Kato M, Oguma E, Nishimoto H, Hanada R. Association between Chiari malformation and bone marrow failure/myelodysplastic syndrome. Br J Haematol. 2013; 163:411-2

Attarbaschi A, Beishuizen A, Mann G, Rosolen A, Mori T, Uyttebroeck A, Niggli F, Csoka M, Krenova Z, Mellgren K, Kabickova E, Chiang AK, Reiter A, Williams D, Burkhardt B. Children and adolescents with follicular lymphoma have an excellent prognosis with either limited chemotherapy or with a "watch and wait" strategy after complete resection. Ann Hematol. 2013; 92:1537-41

Williams D, Mori T, Reiter A, Woessman W, Rosolen A, Wrobel G, Zsiros J, Uyttebroeck A, Marky I, Le Deley MC, Brugières L; European Intergroup for Childhood Non-Hodgkin Lymphoma, the Japanese Pediatric Leukemia/Lymphoma Study Group. Central nervous system involvement in anaplastic large cell lymphoma in childhood: results from a multicentre European and Japanese study. Pediatr Blood Cancer. 2013; 60:E118-21

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Shirahata A, Fukutake K, Takamatsu J, Shima M, Hanabusa H, Mugishima H, Amano K, Takedani H, Tamashima S, Matsushita T, Tawa A, Tanaka I, Higasa S, Kosaka Y, Fujii T, Sakai M, Migita M, Kawakami K, Ohashi Y, Saito H. A Phase II clinical trial of a mixture of plasma-derived factor VIIa and factor X (MC710) in haemophilia patients with inhibitors: haemostatic efficacy, safety and pharmacokinetics/pharmacodynamics. Haemophilia.2013; 19:853-60

Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders. Am J Hum Genet.2013. 6;92:927-934

Nomura T, Takenouchi T, Fukushima H, Shimozato S, Kosaki K, Takahashi T. Catastrophic Autonomic Crisis With Cardiovascular Collapse in Spinal Muscular Atrophy With Respiratory Distress Type 1. J Child Neurol. 2013 ;28:949-951.

Yamazaki F, Osumi T, Kosaki K, Mikami S, Hirato J, Shimada H. Large Congenital Melanocytic Nevi With Atypical Teratoid/Rhabdoid Tumor. Pediatr Blood Cancer. 2013.;60:1240-1241

Ueda K, Awazu M, Konishi Y, Takenouchi T, Shimozato S, Kosaki K, Takahashi T. Persistent hypertension despite successful dilation of a stenotic renal artery in a boy with neurofibromatosis type 1. Am J Med Genet A. 2013;161:1154-1157.

Hirasawa A, Zama T, Akahane T, Nomura H, Kataoka F, Saito K, Okubo K, Tominaga E, Makita K, Susumu N, Kosaki K, Tanigawara Y, Aoki D. Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients. J Hum Genet. 2013;58:794-798.

Takenouchi T, Hida M, Sakamoto Y, Torii C, Kosaki R, Takahashi T, Kosaki K. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A. 2013;161:3057-3062.

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
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Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K . Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. Am J Med Genet A. 2014;164A:993-997.

Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K. A Multiple café au lait spots in familial patients with MAP2K2 mutation. Am J Med Genet A. 2014;164:392-396.

Takenouchi T, Hashida N, Torii C, Kosaki R, Takahashi T, Kosaki K. 1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.Am J Med Genet A. 2014;164:456-460

Takenouchi T, Matsuzaki Y, Yamamoto K, Kosaki K, Torii C, Takahashi T, Kosaki K. SOX9 dimerization domain mutation mimicking type 2 collagen disorder phenotype. Eur J Med Genet. 2014;57:298-301.

Takenouchi T, Sato W, Torii C, Kosaki K. Progressive cognitive decline in an adult patient with cleidocranial dysplasia. Eur J Med Genet. 2014;57:319-321.

Hirasawa A, Masuda K, Akahane T, Ueki A, Yokota M, Tsuruta T, Nomura H, Kataoka F, Tominaga E, Banno K, Makita K, Susumu N, Sugano K, Kosaki K, Kameyama K, Aoki D.
Family History and BRCA1/BRCA2 Status Among Japanese Ovarian Cancer Patients and Occult Cancer in a BRCA1 Mutant Case. Jpn J Clin Oncol. 2014;44:49-56

Shoji Y, Ida S, Etani Y, Yamada H, Kayatani F, Suzuki Y, Kosaki K, Okamoto N. Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome. Clin Pediatr Endocrinol. 2014;23:45-51.

Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano SI, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations. Am J Med Genet A. 2014;164:1899-1908.

Egashira T, Yuasa S, Kimura M, Sawano M, Anzai A, Hayashida K, Kawamura A, Kimura T, Nishiyama N, Aizawa Y, Takatsuki S, Tsuruta H, Murata M, Yamada Y, Kohno T, Maekawa Y, Sano M, Kosaki K, Fukuda K. Coexistence of two distinct fascinating cardiovascular disorders: Heterotaxy syndrome with left ventricular non-compaction and vasospastic angina. Int J Cardiol. 2014;174:e54-56.

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 .

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

Numasawa-Kuroiwa Y, Okada Y, Shibata S, Kishi N, Akamatsu W, Shoji M, Nakanishi A, Oyama M, Osaka H, Inoue K, Takahashi K, Yamanaka S, Kosaki K, Takahashi T, Okano H.
Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes. Stem Cell Reports. 2014;2:648-661.

Sasaki A, Sumie M, Wada S, Kosaki R, Kuroswa K, Fukami M, Sago H, Ogata T, Kagami M. Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype. Am J Med Genet A. 2014;164:264-266.

Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature. Am J Med Genet A. 2014;164:1272-1276.

Radford EJ, Ito M, Shi H, Corish JA, Yamazawa K, Isganaitis E, Seisenberger S, Hore TA, Reik W, Erkek S, Peters AH, Patti ME, Ferguson-Smith AC. In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism. Science. 2014;345(6198):1255903.

Morimoto N, Kitamura M, Kosuga M, Okuyama T. CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses.Mol Genet Metab. 2014;112:154-159

Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014 Mar 27

Niizeki H, Shiohama A, Sasaki T, Seki A, Kabashima K, Otsuka A, Takeshita M, Hirakiyama A, Okuyama T, Tanese K, Ishiko A, Amagai M, Kudoh J. The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype. Br J Dermatol. 2014;170:1187-1189

Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet. 2013:93:945-956

Kimiya T, Yagihashi T, Shinjoh M, Kai A, Sato Y. Presence of Epstein-Barr virus in cerebrospinal fluid from patients with aseptic meningitis appears to be common. Infection. 2013 Oct;41:1045-6

Yamada M, Yamazawa K, Sekiguchi S, Shinjoh M, Tomita K, Takenouchi T, Takahashi T.
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Motomura Y, Morita H, Moro K, Nakae S, Artis D, Endo TA, Kuroki Y, Ohara O, Koyasu S, Kubo M. Basophil-derived interleukin-4 controls the function of natural helper cells,
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