Publications 2011
- Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA. Human mutations in NDE1 cause extreme microcephaly with lissencephaly. Hum Genet. 2011;88:536-47.
- Arimitsu T, Uchida-Ota M, Yagihashi T, Kojima S, Watanabe S, Hokuto I, Ikeda K, Takahashi T, Minagawa-Kawai Y. Functional hemispheric specialization in processing phonemic and prosodic auditory changes in neonates. Front Psychol. 2011;2:202. Epub 2011 Sep 15.
- Ayabe T, Ishizuka B, Maruyama T, Uchida H, Yoshimura Y, Yoshida R, Fukami M, Nagai T, Ogata T: Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients. Sex Dev. 2011;5:235-240.
- Brandão MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB. MAMLD1 (Mastermind-Like Domain Containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female. Adv Exp Med Biol 2011;707:129–131.
- Charu V, Viboud C, Simonsen L, Sturm-Ramirez K, Shinjoh M, Chowell G, Miller M, Sugaya N. Influenza-related mortality trends in Japanese and American seniors: evidence for the indirect mortality benefits of vaccinating schoolchildren. PLoS One. 2011; 6: e26282.
- Dateki S, Fukami M, Tanaka Y, Sasaki G, Moriuchi H, Ogata T. Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis. Endocr J 2011;58:155–159.
- Ekşioğlu YZ, Pong AW, Takeoka M. A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females. Epilepsia. 2011;52:984-92.
- Fryssira H, Makrythanasis P, Kattamis A, Stokidis K, Menten B, Kosaki K, Willems P, Kanavakis E.Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.Mol Syndromol. 2011 ;2(1):45-49.
- Fuchimoto Y, Tomita H, Takasato F, Yamamoto Y, Mori M, Shimojima N, Hoshino K, Hokuto I, Ikeda K, Morikawa Y. Survival of a congenital ileal atresia infant weighing 359 g at birth after laparotomy. Pediatr Int. 2011 Feb;53:127-8.
- Fukami M, Muroya K, Miyake T, Iso M, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T. GATA3 abnormalities in six patients with HDR syndrome. Endocr J 2011;58:117–121.
- Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T. Aromatase excess syndrome: Identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants. J Clin Endocrinol Metab. 2011;96:E1035–1043.
- Furujo M, Kubo T, Kosuga M, Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings withmucopolysaccharidosis type VI. Mol Genet Metab 2011,104:597-602.
- Furukawa Y, Hamaguchi A, Nozaki I, Iizuka T, Sasagawa T, Shima Y, Demura S, Murakami H, Kawahara N, Okuyama T, Iwasa K, Yamada M. Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-l-iduronidase gene. J Neurol Sci. 2011;15;302:121-125.
- Gambone JE, Dusaban SS, Loperena R, Nakata Y, Shetzline SE. The c-Myb target gene neuromedin U functions as a novel cofactor during the early stages of erythropoiesis. Blood. 2011;117:5733-43.
- Guilhoto LM, Loddenkemper T, Gooty VD, Rotenberg A, Takeoka M, Duffy FH, Coulter D, Urion D, Bourgeois BF, Kothare SV. Experience with lacosamide in a series of children with drug-resistant focal epilepsy. Pediatr Neurol. 2011;44:414-9.
- Harada T, Kaneko T, Ito S, Hataya H, Nariai A, Mori M, Yokota S. Superior mesenteric artery syndrome: risk factor for duodenal involvement in Henoch-Schonlein purpura. Pediatr Int. 2011;53:630-633.
- Hasegawa M, Okada T, Sakata H, Nakayama E, Fuchigami T, Inamo Y, Mugishima H, Tajima T, Iwata S, Morozumi M, Ubukata K, Watanabe H, Takahashi T. Pandemic (H1N1) 2009-associated pneumonia in children, Japan. Emerg Infect Dis 2011;17:279-282.
- Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet. 2011;56:110-124.
- Herman ST, Takeoka M, Hughes JR, Drislane FW. Electroencephalography in clinical epilepsy research. Epilepsy Behav. 2011;22:126-33.
- Honda H, Takubo K, Oda H, Kosaki K, Tazaki T, Yamasaki N, Miyazaki K, Moore KA, Honda Z, Suda T, Lemischka IR. Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation. Proc Natl Acad Sci U S A 2011;108:2468-2473.
- Horiya M, Hisano M, Iwasaki Y, Hanaoka M, Watanabe N, Ito Y, Kojima J, Sago H, Murashima A, Kato T, Yamaguchi K. Efficacy of Double Vaccination With the 2009 Pandemic Influenza A(H1N1)Vaccine During Pregnancy. OBSTETRICS & GYNECOLOGY 2011; 118: 887-894
- Hosaka Y, Bito S, Matsubara K, Aoki Y, Iwata S. Association between the number of blood cultures and appropriateness of care for suspected bacteremic urinary tract infection in the elderly. J Infect Chemother. 2011;17:341-350.
- Inokuchi M, Matsuo N, Takayama JI, Hasegawa T. BMI z-score is the optimal measure of annual adiposity change in elementary school children. Ann Hum Biol 2011;38:747-751.
- Inokuchi M, Matsuo N, Takayama JI, Hasegawa T. Tracking of BMI in Japanese children from 6 to 18 years of age: Reference values for annual BMI incremental change and proposal for size of increment indicative of risk for obesity. Ann Hum Biol 2011; 38:146-149.
- Inoue H*, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K: Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. J Clin Endocrinol Metab 2011;96: E373–378.
- Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K, Japan Growth Genome Consortium. Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutation in Japanese subjects with short stature. Clin Endocrinol (Oxf) 2011;74:223-233.
- Inoue H, Sakamoto Y, Kangawa N, Kimura C, Ogata T, Fujieda K, Qian, ZR, SanoT, Itakura M. Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene: roles of epigenetic modifications in transcriptional regulation. Mol Cell Endocrinol 2011;345:1-15.
- Ishikura K, Hamasaki Y, Sakai T, Hataya H, Goto T, Miyama S, Kono T, Honda M. Children with posterior reversible encephalopathy syndrome associated with atypical diffusion coefficient. Clin Exp Nephrol. 2011; 15: 275-80.
- Ishizuka B, Okamoto N, Hamada N, Sugishita Y, Saito J, Takahashi N, Ogata T, Itoh MT. Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency. Fertil Steril 2011;96:1170-1174.
- Izumi K, Hahn A, Christ L, Curtis C, Neilson DE. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. Am J Med Genet 2011;155:1384-1389.
- Izumi K, Mikesell H, Daber R, Chao G, Hutchinson AL, Spinner NB, Parikh AS.8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.Am J Med Genet A. 2011;155(12):3148-52.
- Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Béroud C, Guys JM, Reynaud R, Alessandrini P, Wagner K, Bréaud J, Valla JS, Morisson Lacombe G, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C: Polymorphisms of MAMLD1 gene in hypospadias. J Pediatr Urol. 2011;7:585-591.
- Kamei A, Coutinho-Sledge YS, Goldberg JB, Priebe GP, Pier GB. Mucosal vaccination with a multivalent, live-attenuated vaccine induces multifactorial immunity against Pseudomonas aeruginosa acute lung infection. Infect Immun 2011;79:1289-99.
- Kamei K, Nakanishi K, Ito S, Saito M, Sako M, Ishikura K, Hataya H, Honda M, Iijima K, Yoshikawa N. Long-term results of a randomized controlled trial in childhood IgA nephropathy. Clin J Am Soc Nephrol. 2011;1301-1307.
- Kamo M, Ohyama M, Kosaki K, Amagai M, Ebihara T, Nakayama J, Ishiko A.Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly.Am J Dermatopathol. 2011;33(4):403-406.
- Kanzaki S, Saito H, Mori T, Shimasaki N, Mukai M, Ogawa K. Thirteen-month-old boy with malignant lymphoma having symptoms mimicking acute otitis media and mastoiditis with facial palsy. ORL J Otorhinolaryngol Relat Spec. 2011;73:266-70.
- Kawai S, Nanri S, Ban E, Inokuchi M, Tanaka T, Tokumura M, Kimura K, Sugaya N. Influenza vaccination of schoolchildren and influenza outbreaks in a school. Clin Infect Dis 2011;53:130-136.
- Kodo K, Yamagishi H. A decade of advances in the molecular embryology and genetics underlying congenital heart defects. Circ J. 2011;75(10):2296-2304.
- Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T.Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval.Am J Med Genet A. 2011;155(9):2212-2214.
- Kosaki K. Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. Congenit Anom 2011; 51:12-15.
- Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K. Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma. Am J Med Genet 2011; 155:1189-1191.
- Kosaki R, Fujita H, Ueoka K, Torii C, Kosaki K. Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion. Am J Med Genet 2011; 155:903-905.
- Kosuga M, Henderson-Maclennan NK, Zhang YH, Huang BL, Dipple KM, McCabe ER. Glycerol homeostasis and metabolism in glycerol kinase carrier mice. Mol Genet Metab. 2011;103:297-299.
- Koyama Y, Homma K, Murata M, Shibata H, Itoh H, Hasegawa T. Free cortisol/cortisone ration in pooled urine was increased after rapid-ACTH stimulation test under dexamethasone suppression. Endocrine J 2011;58:1099-1103.
- Kozuka T, Sugita M, Shetzline S, Gewirtz AM, Nakata Y. c-Myb and GATA-3 cooperatively regulate IL-13 expression via conserved GATA-3 response element and recruit mixed lineage leukemia (MLL) for histone modification of the IL-13 locus. J Immunol. 2011;187:5974-82.
- Kuratsuji G, Hokuto I, Higuchi M, Koinuma G, Morikawa Y, Hoshino K,Tanaka M, Miyakoshi K, Ikeda K. Final diagnosis in patients with congenital cystic lung disease detected by fetal ultrasonography. Pediatr Int. 2011 Feb;53:131-2.
- Kurihara N, Miwa M, Matsuzaki Y, Hokuto I, Kikuchi H, Katano S, Ikeda K. Usefulness of measurement of urinary N-terminal pro-brain natriuretic peptide in neonatal period.Pediatr Int. 2011 Aug;53:608.
- Kuroda T, Kumagai M, Nosaka S, Nakazawa A, Takimoto T, Hoshino K; Infantile Hepatic Hemangioma Study Group, Japan. Critical infantile hepatic hemangioma: results of a nationwide survey by the Japanese Infantile Hepatic Hemangioma Study Group.J Pediatr Surg. 2011;46:2239-43.
- Li Q, Kannan A, DeMayo FJ, Lydon JP, Cooke PS, Yamagishi H, Srivastava D, Bagchi MK, Bagchi IC. The antiproliferative action of progesterone in uterine epithelium is mediated by Hand2. Science 2011;331:912-916.
- Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, Kajino H, Matsuura H, Mori K, Matsuoka R, Nakanishi T. The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A. 2011;155A(11):2641-6
- Matsubara K, Murakami N, Nagai T, Ogata T. Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors. J Hum Genet 2011;56:566-671.
- Matsuzaki Y, Hokuto I, Ikeda K. Surfactant protein A in gastric fluid at birth as a useful marker of differentiation diagnosis between respiratory distress syndrome and transient tachypnea of the newborn. Pediatr Int. 2011 Oct;53(5):788-9
- Miyairi I, Laxton JD, Wang X, Obert CA, Arva Tatireddigari VR, van Rooijen N, Hatch TP, Byrne GI. Chlamydia psittaci Genetic Variants Differ in Virulence by Modulation of Host Immunity. J Infect Dis 2011;204:654-663.
- Miyama S, Goto T. Afebrile seizures associated with respiratory syncytial virus infection: a situation-related seizure disorder in early infancy. Pediatr Int. 2011;53:113-5.
- Miyamoto J, Tanikawa A, Igarashi A, Hataya H, Kobayashi K, Ikegami M, Sotome A, Nagai Y, Kameyama K, Ishiko A. Detection of iron deposition in dermal fibrocytes is a useful tool for histologic diagnosis of nephrogenic systemic fibrosis. Am J Dermatopathol. 2011;33:271-276.
- Miyamoto J, Yamada M, Yamazaki Y, Koto S, Izawa M, Ariyasu D, Suzuki E, Hasegawa H, Hasegawa Y. High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH. Endocr J 2011;58:647-655.
- Miyazaki O, Nishimura G, Kagami M, Ogata T. Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14. Pediatr radiol 2011;41:1013-1019.
- Mori J, Miura M, Shiro H, Fujioka K, Kohri T, Hasegawa T. Syndrome of inappropriate anti-diuretic hormone in Kawasaki disease. Pediatr Int 2011:53;354-357.
- Nakabayashi K, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, David Monk D. Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes. Hum Mol Genet 2011;20:3188-3197.
- Nakagawa A, Matsuoka K, Okita H, Iwafuchi H, Hori H, Kumagai M. Neuroblastomas with Discordant Genotype-Phenotype Relationships: Report of Four Cases with MYCN Amplification and Favorable Histology. Pediatr Dev Pathol. 2011;14:87-92.
- Nakajima S, Uchida H, Suzuki T, Watanabe K, Hirano J, Yagihashi T, Takeuchi H, Abe T, Kashima H, Mimura M.Is switching antidepressants following early nonresponse more beneficial in acute-phase treatment of depression?: a randomized open-label trial.Prog Neuropsychopharmacol Biol Psychiatry. 2011;35(8):1983-1989.
- Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, Nakagawa H, Nagasaki K, Jo W, Tajima T. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J. 2011;58:123-30.
- Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T. Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. PLoS ONE 2011;6: e19123.
- Nakamura Y, Kamachi K, Toyoizumi-Ajisaka H, Otsuka N, Saito R, Tsuruoka J, Katsuta T, Nakajima N, Okada K, Kato T, Arakawa Y. Marked difference in Bordetella pertussis DNA load in nasopharyngeal swabs between adults and children. Clin Microbiol Infect, 2011; 17: 365-370
- Nakazawa M, Uchida K, Aramaki M, Kodo K, Yamagishi C, Takahashi T, Mikoshiba K, Yamagishi H. Inositol 1,4,5-trisphosphate receptors are essential for the development of the second heart field. Journal of Molecular Cellular Cardiology 2011 Jul;51:58-66.
- Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T. Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients. J Clin Endicrinol Metab 2011;96:E1838-1842.
- Narumi S, Nagasaki K, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T. Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake. J Clin Endocrinol Metab 2011; 96:E1340-1345.
- Narumi S, Yoshida A, Muroya K, Asakura Y, Adachi M, Fukuzawa R, Kameyama K, Hasegawa T. PAX8 mutation disturbing thyroid follicular growth: A case report. J Clin Endocrinol Metab 2011;96:E2039-2044.
- Numabe H, Sawai H, Yamagata Z, Muto K, Kosaki R, Yuki K, Kosaki K.Reproductive success in patients with Hallermann-Streiff syndrome.Am J Med Genet A. 2011;155(9):2311-2313.
- Nyuzuki H, Nagasaki K, Narumi S, Matsuyama H, Tomita M, Imai C, Ogawa Y, Kikuchi T, Hasegawa T, Uchiyama M. Autonomously functioning thyroid nodule in a four-year-old male with Sotos syndrome. Pedaitr International 2011;53:137-138.
- Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Newborn Screening for Pompe disease in Japan. Mol Genet Metab.2011:104:560-565.
- Ogata T, Matsubara K. Steroid 5a-reductase-2 deficiency and fertility. Fertil Steril 2011;95: e46.
- Okada T, Morozumi M, Matsubara K, Komiyama O, Ubukata K, Takahashi T, Iwata S. Characteristic findings of pediatric inpatients with pandemic (H1N1) 2009 virus infection among severe and nonsevere illnesses. J Infect Chemother 2011;17:238-245.
- Olson HE, Loddenkemper T, Vendrame M, Poduri A, Takeoka M, Bergin AM, Libenson MH, Duffy FH, Rotenberg A, Coulter D, Bourgeois BF, Kothare SV. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011;20:344-8.
- Rosen H, Chiou G, Stoler J, Mulliken J, Tarui T, Meara J, Estroff J.Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft Lip and/or cleft palate. Cleft Palate Craniofac J. 2011;48:619-22.
- Saitoh A, Nagai A, Tenjinbaru K, Li P, Vaughn DW, Roman F, Kato T. Persistence of immunological response six months after vaccination with an AS03-adjuvanted H1N1 2009 influenza vaccine: an open-label, randomised trial in Japanese children aged 6 months to 17 years. Pediatric Infectious Disease Journal 2011 (In press)
- Sakai F, Hanaki H, Ikeda-Dantsuji Y, Hirao Y, Nonoyama M, Iwata S, Sato Y, Akita H, Nakae T, Sunakawa K. Trends in empirical chemotherapy of bacterial meningitis in children aged more than 4 months in Japan: a survey from 1997 through 2008. J Infect Chemother 2011;17:358-362.
- Sakata M, Nakayama T. Protease and helicase domains are related to the temperature sensitivity of wild-type rubella viruses. Vaccine 2011;29:1107-1113.
- Sarco DP, Boyer K, Lundy-Krigbaum SM, Takeoka M, Jensen F, Gregas M, Waber DP. Benign rolandic epileptiform discharges are associated with mood and behavior problems. Epilepsy Behav. 2011;22:298-303.
- Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.Clin Genet. 2011;80(5):478-483.
- Sawada A, Komase K, Nakayama T. AIK-C measles vaccine expressing fusion protein respiratory syncytial virus induces protective antibodies in cotton rats. Vaccine 2011;29:1481-1490.
- Seki F, Yamada K, Nakatsu Y, Okamura K, Yanagi Y, Nakayama T, Komase K, Takeda M. The SI strain of measles virus derived from a patients with subacute sclerosing panencephalitis possesses typical genome alterations and unique amino acid changes that modulate receptor specificity and reduce membrane fusion activity. J Virol 2011; 85: 11871-11882.
- Sekimizu M, Sunami S, Nakazawa A, Hayashi Y, Okimoto Y, Saito AM, Horibe K, Tsurusawa M, Mori T. Chromosome abnormalities in advanced stage T-cell lymphoblastic lymphoma of children and adolescents: a report from Japanese Paediatric Leukaemia/Lymphoma Study Group (JPLSG) and review of the literature. Br J Haematol. 2011;154:612-617.
- Sekimizu M, Sunami S, Nakazawa A, Hayashi Y, Okimoto Y, Saito AM, Horibe K, Tsurusawa M, Mori T. Chromosome abnormalities in advanced stage T-cell lymphoblastic lymphoma of children and adolescents: a report from Japanese Paediatric Leukaemia/Lymphoma Study Group (JPLSG) and review of the literature. Br J Haematol. 2011;154:612-7.
- Shima H, Tokuyama M, Tanizawa A, Tono C, Hamamoto K, Muramatsu H, Watanabe A, Hotta N, Ito M, Kurosawa H, Kato K, Tsurusawa M, Horibe K, Shimada H. Distinct Impact of Imatinib on Growth at Prepubertal and Pubertal Ages of Children with Chronic Myeloid Leukemia. J Pediatr. 2011;159:676-681.
- Shimizu H, Migita O, Kosaki R, Kasahara M, Fukuda A, Sakamoto S, Shigeta T, Uemoto S, Nakazawa A, Kakiuchi T, Arai K. Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings. Am J Transplant. 2011;11:394-398.
- Shinohara M, Saitoh M, Takanashi J, Yamanouchi H, Kubota M, Goto T, Kikuchi M, Shiihara T, Yamanaka G, Mizuguchi M. Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases. Brain Dev. 2011;33:512-7.
- Shirahata A, Fukutake K, Mimaya J, Takamatsu J, Shima M, Hanabusa H, Takedani H, Takashima Y, Matsushita T, Tawa A, Higasa S, Takata N, Sakai M, Kawakami K, Ohashi Y, Saito H. Clinical pharmacological study of a plasma-derived factor VIIa and factor X mixture (MC710) in haemophilia patients with inhibitors – Phase I trial. Haemophilia. 2011 (in press)
- Soneda S, Yazawa T, Fukami M, Adachi M, Mizota M, Fujieda K, Miyamoto K, Ogata T. Proximal Promoter of the Cytochrome P450 Oxidoreductase Gene: Identification of Microdeletions Involving the Untranslated Exon 1 and Critical Function of the SP1 Binding Sites. J Clin Endocrinol Metab 2011;96:E1881–1887.
- Sugaya N, Shinjoh M, Mitamura K, Takahashi T. Very low pandemic influenza A (H1N1) 2009 mortality associated with early neuraminidase inhibitor treatment in Japan: analysis of 1000 hospitalized children. J Infect. 2011; 63: 288-294.
- Sugaya N. Widespread use of neuraminidase inhibitors in Japan. J Infect Chemother 2011 Aug 18. [Epub ahead of print]
- Sugiyama H, Yokoyama H, Sato H, Saito T, Kohda Y, Nishi S, Tsuruya K, Kiyomoto H, Iida H, Sasaki T, Higuchi M, Hattori M, Oka K, Kagami S, Nagata M, Kawamura T, Honda M, Fukasawa Y, Fukatsu A, Morozumi K, Yoshikawa N, Yuzawa Y, Matsuo S, Kiyohara Y, Joh K, Taguchi T, Makino H. Japan renal biopsy registry: the first nationwide, web-based, and prospective registry system of renal biopsies in Japan. Clin Exp Nephrol. 2011;15:493-503.
- Suzumori N, Hasegawa T, Sugiura-Ogasawara M. Prenatal diagnosis of osteogenesis imperfect type II by three-dimensional ultrasound and computed tomography. J Obst Gynecol Res 2011;37:664-665.
- Takagi M, Hori N, Chinen Y, Kurosawa K, Tanaka T, Oku K, Sakata H, Fukuzawa R, Nishimura G, Spranger J, Hasegawa T. Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfect type IIC and dense bone variant. Am J Med Genet 2011;155A:2269-2273.
- Takenouchi T, Pannullo SC, Stieg PE, Lavi E. Solitary fibrous tumor with multiple intracranial and spinal lesions: case report. Neurosurgery. 2011;68:E1148-51.
- Takenouchi T, Rubens EO, Yap VL, Ross G, Engel M, Perlman JM. Delayed onset of sleep-wake cycling with favorable outcome in hypothermic-treated neonates with encephalopathy. J Pediatr. 2011;159:232-7.
- Takenouchi T, Shimozato S, Kosaki K, Momoshima S, Takahashi T. Reversible diffuse white matter lesion in Alagille syndrome. Pediatr Neurol. 2011;45:54-6.
- Tamura D, Sugaya N, Ozawa M, Takano R, Ichikawa M, Yamazaki M, Kawakami C, Shimizu H, Uehara R, Kiso M, Kawakami E, Mitamura K, Kawaoka Y.Frequency of drug-resistant viruses and virus shedding in pediatric influenza patients treated with neuraminidase inhibitors. Clin Infect Dis 2011;52:432-437.
- Tarui T, Khwaja OS, Estroff JA, Robinson JN, Grant PE. Fetal MR imaging evidence of prolonged apparent diffusion coefficient decrease in fetal death. Am J Neuroradiol 2011;32:E126-8.
- Terano C, Miura M, Fukuzawa R, Saito Y, Arai H, Sasaki M, Ariyasu D, Hasegawa Y. Three children with plastic bronchitis associated with 2009 H1N1 influenza virus infection. Pediatr Infect Dis J 2011;30:80-82.
- Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Kosaki R, Sato A, Matsumoto N, Iizuka S.Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25. Am J Med Genet. 2011;155(12):2925-2932.
- Tran NP, Katcher J, Rohman E, Hall MF, Michael CF, Miyairi I, Lew DB. Vancomycin hypersensitivity diagnosed by lymphocyte blast transformation. Case Rep Pediatr. 2011; 2011: 562620.
- Tsuchihashi T, Maeda J, Shin CH, Ivey KN, Black BL, Olson EN, Yamagishi H, Srivastava D. Hand2 function in second heart field progenitors is essential for cardiogenesis. Developmental Biology 2011;351:62-69.
- Tsutsumi Y, Kosaki R, Itoh Y, Tsukamoto K, Matsuoka R, Shintani M, Nosaka S, Masaki H, Iizuka Y.Vein of Galen aneurysmal malformation associated with an endoglin gene mutation. Pediatrics. 2011 ;128(5):1307-1310.
- Uemura O, Honda M, Matsuyama T, Ishikura K, Hataya H, Yata N, Nagai T, Ikezumi Y, Fujita N, Ito S, Iijima K, Kitagawa T. Age, gender, and body length effects on reference serum creatinine levels determined by an enzymatic method in Japanese children: a multicenter study. Clin Exp Nephrol. 2011;15:694-699.
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