研究業績

Publications 2010

  • Adachi M, Muroya K, Asakura Y, Kurosawa K, Nishimura G, Narumi S, Hasegawa T. Ruvalcaba syndrome revisited. Am J Med Genet 2010;152A:1854-1857.
  • Aikawa Y, Katsumoto T, Zhang P, Shima H, Shino M, Terui K, Ito E, Ohno H, Stanley ER, Singh H, Tenen DG, Kitabayashi I. PU.1-mediated upregulation of CSF1R is crucial for leukemia stem cell potential induced by MOZ-TIF2. Nat Med 2010;16:580-5.
  • Akinbi H, Meinzen-Derr J, Auer C, Ma Y, Pullum D,Kusano R, Reszka KJ, Zimmerly K.J Alterations in the host defense properties of human milk following prolonged storage or pasteurization.Pediatr Gastroenterol Nutr. 2010;51(3):347-52.
  • Asai S, Tanaka M, Miyakoshi K, Kim SH, Minegishi K, Matsuzaki Y, Kosaki K, Ogata H, Yoshimura Y. A case of Tessier number 7 cleft with severe micrognathia: prenatal sonographic and three-dimensional helical computed tomographic images. Prenat Diagn 2010;30:159-61.
  • Asakura Y, Narumi S, Muroya K, Fujita K, Aida N, Hasegawa T, Adachi M. Progression of Goiter in Pendred Syndrome is Associated with Increase of Thyroidal Iodine Uptake but not with Iodine Organification Defect: Report of a Patient with SLC26A4 Mutations. Am J Med Genet 2010;152A:1793-1797.
  • Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M. Gat-Yablonski G: A novel loss of function mutation in OTX2 is associated with phenotypically variable anophthalmia and isolated growth hormone deficiency. Hum Genet 2010;127:721-729.
  • Aso K, Koto S, Higuchi A, Ariyasu D, Izawa M, Igaki J, Hasegawa Y. Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome. Endocrine J. 2010;57:909-913.
  • Cho D, Shook DR, Shimasaki N, Chang YH, Fujisaki H, Campana D. Cytotoxicity of activated natural killer cells against pediatric solid tumors. Clin Cancer Res 2010;16:3901-9.
  • Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab 2010;95:4043-7
  • Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Heterozygous OTX2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab 2010;95:756-764.
  • Depositario-Cabacar DT, Peters JM, Pong AW, Roth J, Rotenberg A, Riviello JJ Jr, Takeoka M. High-dose intravenous levetiracetam for acute seizure exacerbation in children with intractable epilepsy. Epilepsia 2010;51:1319-22.
  • Fujita F, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K. Microdeletion of the Down syndrome critical region at 21q22. Am J Med Genet 2010; 152A:950-3. 
  • Fujita H, Hida M, Kanemoto K, Fukuda K, Nagata M, Awazu M. Cyclic stretch induces proliferation and TGF-{beta}1-mediated apoptosis via p38 and ERK in ureteric bud cells. Am J Physiol Renal Physiol. 2010;299:F648-55.
  • Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K. Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption. Am J Med Genet 2010;152A:1033-1035.
  • Fukami M, Maruyama T, Yoshimura Y, Ogata T. Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother. Horm Res Peadiatr 2010;73:477-481.
  • Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Taketani K, Ogata T. Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. Mol Genet Metab 2010;100:269-273.
  • Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. J Inherit Metab Dis 2010 Jul 21. [Epub ahead of print]
  • Fukushima H, Kosaki K, Sato R, Yagihashi T, Gatayama R, Kodo K, Hayashi T, Nakazawa M, Tsuchihashi T, Maeda J, Kojima Y, Yamagishi H, Takahashi T. Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin. Am J Med Genet 2010;152A:1919-1924.
  • Furukawa R, Miwa M, Hokuto I, Ikeda K. C-reactive protein in extremely low birth weight infants using evanescent wave immunoassay to make normative standards after birth. Pediatr Int. 2010 Dec;52:898.
  • Gomei Y, Nakamura Y, Yoshihara H, Hosokawa K, Iwasaki H, Suda T, Arai F. Functional differences between two Tie2 ligands, angiopoietin-1 and -2, in regulation of adult bone marrow hematopoietic stem cells. Exp Hematol 2010;38:82-9.
  • Goto M, Hoxha N, Osman R, Dell KM. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010; 25: 2449-2457.
  • Hakim H, Apiwattanakul N, Miyairi I, Arnold S. Blastomycosis: The Great Mimicker. Clin Pediatr (Phila). 2010 Dec 2.
  • Hamajima T, Maruwaka K, Homma K, Matsuo K, Fujieda K, Hasegawa T. Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing’s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome. Endocrine J 2010;57: 819-824.
  • Hiraoka M, Takahashi H, Orimo H, Hiraoka M, Ogata T, Azuma N: Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity. Mol Vis 2010;16:2572–2577.
  • Honda M, Warady BA. Long-term peritoneal dialysis and encapsulating peritoneal sclerosis in children. Pediatr Nephrol. 2010;25:75-81.
  • Hosokawa K, Arai F, Yoshihara H, Iwasaki H, Hembree M, Yin T, Nakamura Y, Gomei Y, Takubo K, Shima H, Matsuoka S, Li L, Suda T. Cadherin-based adhesion is a potential target for niche manipulation to protect hematopoietic stem cells in adult bone marrow. Cell Stem Cell 2010;6:194-8.
  • Hosokawa K, Arai F, Yoshihara H, Iwasaki H, Nakamura Y, Gomei Y, Suda T. Knockdown of N-cadherin suppresses the long-term engraftment of hematopoietic stem cells. Blood 2010;116:554-63.
  • Hosokawa S, Takahashi N, Kitajima H, Nakayama M, Kosaki K, Okamoto N. A case of Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. Congenit Anom 2010;50:129-32.
  • Ibrahim OM, Takefumi Y, Dogru M, Negishi K, Kosaki K, Tsubota K. Ocular complications in Mulvihill-Smith syndrome. Eye (Lond) 2010;24:1123-4.
  • Iijima K, Nozu K, Kamei K, Nakayama M, Ito S, Matsuoka K, Ogata T, Kaito H, Nakanishi K, Matsuo M. Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. Pediatr Nephrol 2010;25:2165-70
  • Imashuku S, Shioda Y, Tsunematsu Y, Imamura T, Morimoto A; Japan LCH Study Group.VCR/AraC chemotherapy and ND-CNS-LCH. Pediatr Blood Cancer 2010;55:215-6.
  • Inoue H, Takada H, Kusuda T, Goto T, Ochiai M, Kinjo T, Muneuchi J, Takahata Y, Takahashi N, Morio T, Kosaki K, Hara T. Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur J Pediatr 2010;169: 839-44.
  • Ishii T, Hayashi M, Suwanai A, Amano N, Hasegawa T. The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias. J Urol 2010;76:97-100.
  • Ishikura K, Yoshikawa N, Hattori S, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Yata N, Ando T, Honda M. Treatment with microemulsified cyclosporine in children with frequently relapsing nephritic syndrome. Nephrol Dial Transplant. 2010; 25: 3956-3962.
  • Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K. Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. Am J Med Genet 2010;152: 1028-1032.
  • Izumi K, Takagi M, Parikh A, Hahn A, Miskovsky S, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Late manifestations of Tricho-Rhino-Pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. Am J Med Genet 2010;152: 2115-2119.
  • Izumi K, Takagi M, Parikh A, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Late manifestations of Tricho-Rhino-Pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. Am J Med Genet 2010;152A:2115-2119.
  • Jin S, Zhao H, Yi Y, Nakata Y, Kalota A, Gewirtz AM. c-Myb binds MLL through menin in human leukemia cells and is an important driver of MLL-associated leukemogenesis. J Clin Invest 2010;120:593-606.
  • Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet 2010;6 :e1000992.
  • Kamei A, Koh AY, Gadjeva M, Priebe GP, Lory S, Pier GB. Analysis of acquisition of Pseudomonas aeruginosa gastrointestinal mucosal colonization and horizontal transmission in a murine model. J infect Dis 2010;201:71-80.
  • Kasahara M, Sakamoto S, Shigeta T, Fukuda A, Kosaki R, Nakazawa A, Uemoto S, Noda M, Naiki Y, Horikawa R. Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency. Pediatr Transplant. 2010;14:1036-1040.
  • Kato H, Yoshida R, Tsukamoto K, Suga H, Aoi N, Eto H, Higashino T, Araki J, Ogata T, Yoshimura K. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome) Int J Dermatol 2010;49:1146-1151.
  • Kimura T, Kashiwase S, Makimoto A, Kumagai M, Taga T, Ishida Y, Ida K, Nagatoshi Y, Mugishima H, Kaneko M, Barrett JS. Pharmacokinetic and pharmacodynamic investigation of irinotecan hydrochloride in pediatric patients with recurrent or progressive solid tumors. Int J Clin Pharmacol Ther 2010;48:327-34.
  • Kobayashi R, Yamato K, Tanaka F, Takashima Y, Inada H, Kikuchi A, Kumagai MA, Sunami S, Nakagawa A, Fukano R, Fujita N, Mitsui T, Tsurusawa M, Mori T. Lymphoma Committee, Japanese Pediatric Leukemia/Lymphoma Study Group. Retrospective analysis of non-anaplastic peripheral T-cell lymphoma in pediatric patients in Japan. Pediatr Blood Cancer 2010; 54: 212-5.
  • Kodo K, Yamagishi H. GATA transcription factors in congenital heart defects: a commentary on a novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. Journal of Human Genetics 2010;55:637-638.
  • Koh AY, Mikkelsen PJ, Smith RS, Coggshall KT, Kamei A, Givskov M, Lory S, Pier GB. Utility of in vivo transcription profiling for identifying Pseudomonas aeruginosa genes needed for gastrointestinal colonization and dissemination. PLoS One 2010;5:e15131.
  • Kosaki R, Kikuchi S, Koinuma G, Higuchi M, Torii C, Kawasaki K, Kosaki K. Two patients with Rubinstein-Taybi syndrome and severe pulmonary interstitial involvement. Am J Med Genet 2010;152: 1844-6.
  • Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol 2010;67:516-25.
  • Matsubara K, Iwamoto H, Yoshida A, Ogata T. Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5a-reductase-2 deficiency. Fertil Steril   2010;94:2770.e7-10.
  • Matsuzaki Y, Besnard V, Clark JC, Xu Y, Wert SE, Ikegami M, Stahlman MT, Weaver TE, Hunt AN, Postle AD, Whitsett JA. Conditional Deletion of Abca3 in Alveolar Type II Cells Alters Surfactant Homeostasis in Newborn and Adult Mice. Am J Physiol Lung Cell Mol Physiol. 2010 Feb 26. [Epub ahead of print]
  • Mitsuhashi T, Yonemoto J, Sone H, Kosuge Y, Kosaki K, Takahashi T. In utero exposure to dioxin causes neocortical dysgenesis through the actions of p27Kip1. Proc Natl Acad Sci USA 2010;107:16331-5.
  • Miyairi I, Ramsey KH, Patton DL. Duration of untreated chlamydial genital infection and factors associated with clearance: review of animal studies. J Infect Dis. 2010;201 Suppl 2:S96-103.
  • Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010;87:882-9.
  • Muramatsu H, Kojima S, Yoshimi A, Atsuta Y, Kato K, Nagatoshi Y, Inoue M, Koike K, Kawase T, Ito M, Kurosawa H, Tanizawa A, Tono C, Hamamoto K, Hotta N, Watanabe A, Morishima Y, Kawa K, Shimada H. Outcome of 125 children with CML who received transplants from unrelated donors: the Japan Marrow Donor Program (JMDP). Biol Blood Marrow Transplant 2010;16:231-238.
  • Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Ogata T. Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation. Endocr J 2010;157:171-174.
  • Nakamura Y, Arai F, Iwasaki H, Hosokawa K, Kobayashi I, Gomei Y, Matsumoto Y, Yoshihara H, Suda T. Isolation and characterization of endosteal niche cell populations that regulate hematopoietic stem cells. Blood. 2010;116:1422-32.
  • Nakata Y, Brignier AC, Jin S, Shen Y, Rudnick SI, Sugita M, Gewirtz AM. c-Myb, Menin, GATA-3, and MLL form a dynamic transcription complex that plays a pivotal role in human T helper type 2 cell development. Blood 2010;116:1280-90.
  • Narumi S, Cho H, Tamada I, Kozu Y, Tsuchiya T, Nagai T, Hasegawa T. One novel and two recurrent THRB mutations associated with resistance to thyroid hormone: Structure-based computational mutation prediction. Clin Pediatr Endocrinol 2010;19:91-99.
  • Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T. Transcription-factor mutations and congenital hypothyroidism: Systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 2010;95:1981-1985.
  • Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi M, Nishi E, Kawame H, Akabane T, Watanabe Y, Nishimura G, Emi M, Hasegawa T. Various Types of LRP5 Mutations in Four Patients with Osteoporosis-Pseudoglioma Syndrome: Identification of a 7.2-kb Microdeletion by Oligonucleotide Tiling Microarray.Am J Med Genet 2010;152A:133-140.
  • Ohnuki Y, Torii C, Kosaki R, Yagihashi T, Sago H, Yasukawa K, Takahashi T, Kosaki K. Cri-du-chat syndrome cytogenetically cryptic recombination aneusomy of chromosome 5: Implications in recurrence risk estimation. Mol Syndromol 2010;1:95-98.
  • Okada K, Komiya T, Yamamoto A, Takahashi M, Kamachi K, Nakano T, Nagai T, Okabe N, Kamiya H, Nakayama T. Safe and effective booster immunization using DTaP in teenagers. Vaccine 2010;28:7626-7633.
  • Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T. Japan Elaprase® Treatment (JET) Study: Idursulfase Enzyme Replacement Therapy in Adult Patients with Attenuated Hunter Syndrome (Mucopolysaccharidosis II, MPS II) Mol Genet Metab 2010; 99:18-25.
  • Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N.Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2010;54:145-151.
  • Rowley AH, Miura M. IgA deficiency and Kawasaki disease. Pediatr Int 2010 (in press).
  • Sakai-Tagawa Y, Ozawa M, Tamura D, Le QM, Nidom CA, Sugaya N Kawaoka Y. Sensitivity of influenza rapid diagnostic tests to H5N1 and 2009 pandemic H1N1 viruses. J Clin Microbiol 2010;48:2872-2877.
  • Sato A, Hoshi Y, Onuma M, Sato R, Tsunematsu Y, Isonishi A, Matsumoto M, Fujimura Y, Imaizumi M. A 9-month-old infant with acquired idiopathic thrombotic thrombocytopenic purpura caused by inhibitory IgG-autoantibody to ADAMTS13. Pediatr Hematol Oncol 2010;27:53-8.
  • Sekine T, Konno M, Sakaki S, Moritani S, Miura T, Wong W, Nisio H, Nishiguchi T, Ohuchi M Y, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Hattori M, Horita S, Igarashi T, Saito H, Kunishima S. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78:207-214.
  • Shima H, Miharu M, Osumi T, Takahashi T, Shimada H. Differences in voriconazole trough plasma concentrations per oral dosages between children younger and older than 3 years of age. Pediatr Blood Cancer 2010;54:1050-2.
  • Shima H, Takahashi T, Shimada H. Protein-losing enteropathy caused by gastrointestinal tract-involved Langerhans cell histiocytosis. Pediatrics 2010;125:e426-32.
  • Shima H, Takubo K, Tago N, Iwasaki H, Arai F, Takahashi T, Suda T. Acquisition of G0 state by CD34-positive cord blood cells after bone marrow transplantation. Exp Hematol. 2010;38:1231-40.
  • Shinjoh M, Iwata S, Takahashi T. Klebsiella oxytoca-positive, penicillin-associated hemorrhagic enterocolitis in children. Pediatr Int 2010;52:132-133.
  • Suda N, Hattori M, Kosaki K, Banshodani A, Kozai K, Tanimoto K, Moriyama K. Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia.Orthod Craniofac Res 2010;13:197-202.
  • Sugaya N, Ohashi Y. Long-acting neuraminidase inhibitor laninamivir octanoate (CS-8958) versus oseltamivir as treatment for children with influenza virus infection. Antimicrob Agents Chemother 2010;54:2575-2582.
  • Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Suguhara-Ogasawara M. Prenatal diagnosis of paternal uniparental disomy 14: delineation of further patient. Am J Med Genet A 2010;152A;3189-3192.
  • Takayama JI, Matsuo N. The enigma of spontaneous preterm birth. N Engl J Med 2010;361:2032-2033
  • Takenouchi T, Heier LA, Engel M, Perlman JM. Restricted diffusion in the corpus callosum in hypoxic-ischemic encephalopathy. Pediatr Neurol. 2010;43:190-6.
  • Takenouchi T, Raju GP. Germinal matrix hemorrhage in Zellweger syndrome. J Child Neurol. 2010;25:1398-400.
  • Takenouchi T, Solomon GE. Alien hand syndrome in Parry-Romberg syndrome. Pediatr Neurol 2010;42:280-2.
  • Takenouchi T, Yap VL, Engel M, Perlman JM. Stimulus-induced seizure in sick neonates- novel observations with potential clinical implications. Epilepsia 2010;51:308-11.
  • Takubo K, Goda N, Yamada W, Iriuchishima H, Ikeda E, Kubota Y, Shima H, Johnson RS, Hirao A, Suematsu M, Suda T. Regulation of the HIF-1alpha level is essential for hematopoietic stem cells. Cell Stem Cell 2010;7:391-402.
  • Tanaka M, Seki G, Ishizawa K, Hirahashi J, Miura K, Sekine T, Someya T, Hataya H, Nagata M, Fujita T. Resolution of Henoch-Schonlein purpura nephritis after acquired IgA deficiency. Pediatr Nephrol. 2010; 25: 2355-2358.
  • Tsuchida M, Ohara A, Manabe A, Kumagai M, Shimada H, Kikuchi A, Mori T, Saito M, Akiyama M, Fukushima T, Koike K, Shiobara M, Ogawa C, Kanazawa T, Noguchi Y, Oota S, Okimoto Y, Yabe H, Kajiwara M, Tomizawa D, Ko K, Sugita K, Kaneko T, Maeda M, Inukai T, Goto H, Takahashi H, Isoyama K, Hayashi Y, Hosoya R, Hanada R; Tokyo Children's Cancer Study Group. Long-term results of Tokyo Children's Cancer Study Group trials for childhood acute lymphoblastic leukemia, 1984-1999. Leukemia 2010;24:383-96.
  • Tsuji A, Sasaki M, Ishii T, Sato S, Kanki H, Suzuki S, Takeuchi S, Fukuda T. Persistent eosinophilic infiltration of the myocardium in a child in complete remission of acute lymphoblastic leukemia and eosinophilia. potential role in late cardiac disease? The Keio Journal of Medicine 2010;59: 64-68.
  • Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G. Bifid epiglottis: Syndromic constituent rather than isolated anomaly. Pediatr Int. 2010;52:723-728.
  • Uchida K, Aramaki M, Nakazawa M, Yamagishi C, Makino S, Fukuda K, Nakamura T, Takahashi T, Mikoshiba K, Yamagishi H. Gene Knock-Outs of Inositol 1,4,5-Trisphosphate Receptors Types 1 and 2 Result in Perturbation of Cardiogenesis. PLoS ONE 2010; 5: pii: e12500.
  • Vendrame M, Loddenkemper T, Gooty VD, Takeoka M, Rotenberg A, Bergin AM, Eksioglu YZ, Poduri A, Duffy FH, Libenson M, Bourgeois BF, Kothare SV. Experience with rufinamide in a pediatric population: a single center's experience. Pediatr Neurol. 2010;43:155-8.
  • Watanabe N, Okita H, Matsuoka K, Kiyotani C, Fujii E, Kumagai M, Nakagawa A. Vaginal yolk sac (endodermal sinus) tumors in infancy presenting persistent vaginal bleeding. J Obstet Gynaecol Res 2010;36:213-6.
  • Yagihashi T, Hatori K, Ishii K, Torii C, Momoshima S, Takahashi T, Kosaki K. Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome, Mol Syndromol 2010;1:91-94.
  • Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T. Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype. J Med Genet 2010;47:782-785.
  • Yamazawa K, Ogata T, Ferguson-Smith AC: Uniparental disomy and human disease: an overview. Am J Med Genet A 2010;154:329-334.
  • Yanagimachi M, Naruto T, Tanoshima R, Kato H, Yokosuka T, Kajiwara R, Fujii H, Tanaka F, Goto H, Yagihashi T, Kosaki K, Yokota S. Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation. Clin Transplant 2010;24:855-861.
  • Yoshida N, Nakayama T. Leucine at position 383 of fusion protein is responsible for fusogenicity of wild-type mumps virus in B95a cells. Intetrvirology 2010;53:193-202.
  • Yoshii A, Constantine-Paton M. Postsynaptic BDNF-TrkB signaling in synapse maturation, plasticity, and disease. Dev Neurobiol 2010;70:304-22.
  • Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010;42:1015-20.