Shinji Saitoh

Shinji Saitoh

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Shinji Saitoh

Publications by authors named "Shinji Saitoh"

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Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.

Brain Dev 2019 Oct 6;41(9):803-807. Epub 2019 Jun 6.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.05.006DOI Listing
October 2019

De novo variants in cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.

Epilepsia Open 2019 Sep 24;4(3):476-481. Epub 2019 May 24.

Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan.

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http://dx.doi.org/10.1002/epi4.12339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698685PMC
September 2019

Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.

Brain Dev 2019 Aug 20;41(7):625-629. Epub 2019 Mar 20.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.braindev.2019.03.003DOI Listing
August 2019

Delayed Recognition of Childhood Arterial Ischemic Stroke.

Pediatr Int 2019 Jul 11. Epub 2019 Jul 11.

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1111/ped.13966DOI Listing
July 2019

Peripartum depression and infant care, sleep and growth.

Sci Rep 2019 Jul 15;9(1):10186. Epub 2019 Jul 15.

Center for Human Development and Family Science, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/s41598-019-46563-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629993PMC
July 2019

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Am J Med Genet A 2019 Apr 24;179(4):645-649. Epub 2019 Jan 24.

Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.61056
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http://dx.doi.org/10.1002/ajmg.a.61056DOI Listing
April 2019

Endometriosis and Recurrent Pregnancy Loss as New Risk Factors for Venous Thromboembolism during Pregnancy and Post-Partum: The JECS Birth Cohort.

Thromb Haemost 2019 Apr 5;119(4):606-617. Epub 2019 Feb 5.

Department of Occupational and Environmental Health, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1055/s-0039-1677733DOI Listing
April 2019

Visual function scale for identification of infants with low respiratory compliance.

Pediatr Neonatol 2019 Mar 2. Epub 2019 Mar 2.

Department of Paediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan; Centre for Developmental and Cognitive Neuroscience, Kurume University School of Medicine, Kurume, Fukuoka, Japan; Center for Human Development and Family Science, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2019.02.006DOI Listing
March 2019

A novel splicing mutation in in a boy with Christianson syndrome.

Hum Genome Var 2019 25;6:15. Epub 2019 Mar 25.

1Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/s41439-019-0046-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434044PMC
March 2019

Intrauterine growth and the maturation process of adrenal function.

PeerJ 2019 7;7:e6368. Epub 2019 Feb 7.

Center for Human Development and Family Science, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.

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https://peerj.com/articles/6368
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http://dx.doi.org/10.7717/peerj.6368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368969PMC
February 2019

Feeding-Induced Cortisol Response in Newborn Infants.

J Clin Endocrinol Metab 2018 12;103(12):4450-4455

Centre for Developmental and Cognitive Neuroscience, Department of Paediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.

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http://dx.doi.org/10.1210/jc.2018-01052DOI Listing
December 2018

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

Brain Dev 2018 Sep 8;40(8):678-684. Epub 2018 May 8.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya 467-8601, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.04.008DOI Listing
September 2018

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

J Hum Genet 2018 Sep 15;63(9):957-963. Epub 2018 Jun 15.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/s10038-018-0482-3DOI Listing
September 2018

Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract.

J Pediatr Hematol Oncol 2018 08;40(6):491-493

Departments of Pediatrics and Neonatology.

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http://dx.doi.org/10.1097/MPH.0000000000001123DOI Listing
August 2018

Estimation of elevated intracranial pressure in infants with hydroce-phalus by using transcranial Doppler velocimetry with fontanel compression.

Sci Rep 2018 Aug 7;8(1):11824. Epub 2018 Aug 7.

Center for Human Development and Family Science, Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.

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http://dx.doi.org/10.1038/s41598-018-30274-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081432PMC
August 2018

Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.

J Pediatr 2018 05 28;196:161-167.e1. Epub 2018 Feb 28.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.jpeds.2017.12.058DOI Listing
May 2018

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

Brain Dev 2018 Mar 21;40(3):222-225. Epub 2017 Oct 21.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.09.010DOI Listing
March 2018

Antiviral therapy for hepatitis B virus during second pregnancies.

J Obstet Gynaecol Res 2018 Mar 11;44(3):566-569. Epub 2017 Dec 11.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1111/jog.13540DOI Listing
March 2018

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.

Brain Dev 2018 Feb 12;40(2):134-139. Epub 2017 Oct 12.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.08.003DOI Listing
February 2018

Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury.

Cell Stem Cell 2018 01 21;22(1):128-137.e9. Epub 2017 Dec 21.

Department of Developmental and Regenerative Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan; Division of Neural Development and Regeneration, National Institute for Physiological Sciences, Okazaki 444-8585, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19345909173045
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http://dx.doi.org/10.1016/j.stem.2017.11.005DOI Listing
January 2018

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

Genet Med 2017 12 31;19(12):1356-1366. Epub 2017 May 31.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1038/gim.2017.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729347PMC
December 2017

deletion syndrome: clinical features and epigenetic delineation.

J Med Genet 2017 12 28;54(12):836-842. Epub 2017 Aug 28.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2017-104854DOI Listing
December 2017

Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.

Acta Paediatr 2017 Nov 2;106(11):1817-1824. Epub 2017 Aug 2.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1111/apa.13981DOI Listing
November 2017

Probability curves for predicting symptom severity during an oral food challenge with wheat.

Allergol Int 2017 Oct 8;66(4):627-628. Epub 2017 Mar 8.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.alit.2017.02.011DOI Listing
October 2017

Siblings with optic neuropathy and RTN4IP1 mutation.

J Hum Genet 2017 Oct 22;62(10):927-929. Epub 2017 Jun 22.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2017.68DOI Listing
October 2017

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

Am J Med Genet A 2017 Oct 4;173(10):2690-2696. Epub 2017 Aug 4.

National Institute of Genetics, Department of Molecular Genetics, Division of Centrosome Biology, Mishima, Shizuoka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38391DOI Listing
October 2017

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

J Hum Genet 2017 Sep 18;62(9):861-863. Epub 2017 May 18.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/jhg.2017.53DOI Listing
September 2017

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.

Epileptic Disord 2017 Sep;19(3):339-344

Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago.

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http://dx.doi.org/10.1684/epd.2017.0922DOI Listing
September 2017

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening.

Pediatr Res 2017 Aug 17;82(2):237-243. Epub 2017 May 17.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/pr.2017.56DOI Listing
August 2017

Novel MCA/ID syndrome with ASH1L mutation.

Am J Med Genet A 2017 Jun 10;173(6):1644-1648. Epub 2017 Apr 10.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38193DOI Listing
June 2017

Treatment Strategy for Pediatric Paratesticular Rhabdomyosarcoma Based on Chimeric Gene Assessment.

Urology 2016 Sep 24;95:187-9. Epub 2016 Mar 24.

Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S00904295160033
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http://dx.doi.org/10.1016/j.urology.2016.03.024DOI Listing
September 2016

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

Am J Med Genet A 2016 07 13;170(7):1863-7. Epub 2016 Apr 13.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37653DOI Listing
July 2016

Effect of Japanese cedar-specific sublingual immunotherapy on allergen-specific TH2 cell counts in blood.

Ann Allergy Asthma Immunol 2016 07 4;117(1):72-78.e4. Epub 2016 May 4.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S10811206163012
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http://dx.doi.org/10.1016/j.anai.2016.04.003DOI Listing
July 2016

Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants.

Pediatr Int 2016 Jun 3;58(6):461-6. Epub 2016 Feb 3.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1111/ped.12861DOI Listing
June 2016

Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis.

Pediatr Int 2016 Jun 4;58(6):506-509. Epub 2016 Feb 4.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1111/ped.12839DOI Listing
June 2016

Truncating mutation in NFIA causes brain malformation and urinary tract defects.

Hum Genome Var 2015 26;2:15007. Epub 2015 Feb 26.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences , Nagoya, Japan.

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http://dx.doi.org/10.1038/hgv.2015.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785547PMC
April 2016

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

J Pediatr 2016 Apr 5;171:171-7.e1-4. Epub 2016 Feb 5.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.jpeds.2016.01.006DOI Listing
April 2016

Concordance of DSM-5 and DSM-IV-TR classifications for autism spectrum disorder.

Pediatr Int 2015 Dec 10;57(6):1097-100. Epub 2015 Sep 10.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University.

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http://dx.doi.org/10.1111/ped.12704DOI Listing
December 2015

Effects of tolvaptan on congestive heart failure complicated with chylothorax in a neonate.

Pediatr Int 2015 Oct 10;57(5):1020-2. Epub 2015 Sep 10.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1111/ped.12697DOI Listing
October 2015

Probability curves for predicting symptom severity during oral food challenge with milk.

Ann Allergy Asthma Immunol 2015 Sep 21;115(3):251-3. Epub 2015 Jul 21.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.anai.2015.06.019DOI Listing
September 2015

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

Pediatr Neurol 2015 May 7;52(5):e7-8. Epub 2015 Feb 7.

Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.019DOI Listing
May 2015

Good death for children with cancer: a qualitative study.

Jpn J Clin Oncol 2015 Apr 26;45(4):349-55. Epub 2015 Jan 26.

Department of Psychiatry and Cognitive-Behavioral Medicine, Nagoya City University Graduate School of Medical Sciences, Nagoya Division of Psycho-oncology and Palliative Care, Nagoya City University Hospital, Nagoya

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https://academic.oup.com/jjco/article-lookup/doi/10.1093/jjc
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http://dx.doi.org/10.1093/jjco/hyu223DOI Listing
April 2015

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.

Pediatr Int 2015 Apr;57(2):321-3

Perinatal and Neonatal Center, Aichi Medical University Hospital, Aichi, Japan.

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http://dx.doi.org/10.1111/ped.12502DOI Listing
April 2015

Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndrome.

Pediatr Int 2015 Apr;57(2):e45-7

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://doi.wiley.com/10.1111/ped.12612
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http://dx.doi.org/10.1111/ped.12612DOI Listing
April 2015

Advantageous information provided by magnetoencephalography for patients with neocortical epilepsy.

Brain Dev 2015 Feb 10;37(2):237-42. Epub 2014 May 10.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.04.006DOI Listing
February 2015

Enhancement of neuroblast migration into the injured cerebral cortex using laminin-containing porous sponge.

Tissue Eng Part A 2015 Jan 20;21(1-2):193-201. Epub 2014 Aug 20.

1 Center for Brain Integration Research, Tokyo Medical and Dental University , Tokyo, Japan .

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http://dx.doi.org/10.1089/ten.TEA.2014.0080DOI Listing
January 2015

Inflammatory cytokine tumor necrosis factor α suppresses neuroprotective endogenous erythropoietin from astrocytes mediated by hypoxia-inducible factor-2α.

Eur J Neurosci 2014 Dec 4;40(11):3620-6. Epub 2014 Oct 4.

Department of Molecular Neurobiology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://doi.wiley.com/10.1111/ejn.12747
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http://dx.doi.org/10.1111/ejn.12747DOI Listing
December 2014

Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.

Eur J Pediatr 2014 Nov 11;173(11):1541-4. Epub 2013 Aug 11.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.

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http://dx.doi.org/10.1007/s00431-013-2099-zDOI Listing
November 2014

Thalamic lesions in acute encephalopathy with biphasic seizures and late reduced diffusion.

Pediatr Neurol 2014 Nov 16;51(5):701-5. Epub 2014 Jul 16.

Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan; Department of Pediatrics, Aichi Medical University, Nagakute, Aichi, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.013DOI Listing
November 2014

KIF1A mutation in a patient with progressive neurodegeneration.

J Hum Genet 2014 Nov 25;59(11):639-41. Epub 2014 Sep 25.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2014.80DOI Listing
November 2014

Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions.

Neuropediatrics 2014 Aug 13;45(4):256-60. Epub 2013 Dec 13.

Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1055/s-0033-1363300DOI Listing
August 2014

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

J Hum Genet 2014 Jul 15;59(7):405-7. Epub 2014 May 15.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

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http://dx.doi.org/10.1038/jhg.2014.41DOI Listing
July 2014

Probability curves focusing on symptom severity during an oral food challenge.

Ann Allergy Asthma Immunol 2014 Jun 29;112(6):556-557.e2. Epub 2014 Apr 29.

Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

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http://dx.doi.org/10.1016/j.anai.2014.04.001DOI Listing
June 2014

Magnetoencephalography localizing spike sources of atypical benign partial epilepsy.

Brain Dev 2014 Jan 4;36(1):21-7. Epub 2013 Feb 4.

Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2012.12.011DOI Listing
January 2014

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

J Obstet Gynaecol Res 2013 Nov 2;39(11):1545-7. Epub 2013 Jul 2.

Departments of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya.

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http://dx.doi.org/10.1111/jog.12081DOI Listing
November 2013

[From pathogenesis to treatment of genetic intellectual disabilities: a lesson from Angelman syndrome research].

Authors:
Shinji Saitoh

Nihon Shinkei Seishin Yakurigaku Zasshi 2013 Jun;33(3):127-30

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June 2013

Effect of Japanese cedar specific immunotherapy on allergen-specific T(H)2 cells in peripheral blood.

Ann Allergy Asthma Immunol 2013 May 15;110(5):380-385.e1. Epub 2013 Mar 15.

Department of Pediatrics, School of Medicine, Fujita Health University, Toyoake, Japan.

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http://dx.doi.org/10.1016/j.anai.2013.02.015DOI Listing
May 2013

Diclofenac enhances proinflammatory cytokine-induced aquaporin-4 expression in cultured astrocyte.

Cell Mol Neurobiol 2013 Apr 16;33(3):393-400. Epub 2013 Jan 16.

Department of Molecular Neurobiology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan.

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http://link.springer.com/content/pdf/10.1007/s10571-013-9905
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http://link.springer.com/10.1007/s10571-013-9905-z
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http://dx.doi.org/10.1007/s10571-013-9905-zDOI Listing
April 2013

Diclofenac enhances proinflammatory cytokine-induced phagocytosis of cultured microglia via nitric oxide production.

Toxicol Appl Pharmacol 2013 Apr 5;268(2):99-105. Epub 2013 Feb 5.

Department of Molecular Neurobiology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan.

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http://dx.doi.org/10.1016/j.taap.2013.01.024DOI Listing
April 2013

Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasms.

Epilepsy Res 2013 Mar 5;104(1-2):68-77. Epub 2012 Oct 5.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.09.001DOI Listing
March 2013

Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.

Sci Transl Med 2012 Dec;4(163):163ra157

Department of Neurophysiology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.

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http://dx.doi.org/10.1126/scitranslmed.3004655DOI Listing
December 2012

[Questionnaire survey conducted on the parents of patients with spinal muscular atrophy type 1 in Japan regarding switch devices, language development, upper extremity function and QOL].

No To Hattatsu 2012 Nov;44(6):465-71

Department of Functioning and Disability, Faculty of Health Sciences, Hokkaido University, Sapporo, Hokkaido.

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November 2012

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

Am J Med Genet A 2012 Oct 10;158A(10):2621-3. Epub 2012 Aug 10.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35230DOI Listing
October 2012

Growth factors released from gelatin hydrogel microspheres increase new neurons in the adult mouse brain.

Stem Cells Int 2012 10;2012:915160. Epub 2012 Oct 10.

Department of Developmental and Regenerative Biology, Nagoya City University Graduate School of Medical Sciences, Aichi 467-8601, Nagoya, Japan.

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http://dx.doi.org/10.1155/2012/915160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3474987PMC
October 2012

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

Am J Med Genet A 2012 Aug 18;158A(8):1891-6. Epub 2012 Jun 18.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35439DOI Listing
August 2012

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.

Pediatr Int 2012 Jun;54(3):e22-5

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2011.03550.xDOI Listing
June 2012

Acute encephalopathy in children with Dravet syndrome.

Epilepsia 2012 Jan 16;53(1):79-86. Epub 2011 Nov 16.

Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03311.xDOI Listing
January 2012

Early-onset absence epilepsy at eight months of age.

Epileptic Disord 2011 Dec;13(4):417-21

Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata.

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http://dx.doi.org/10.1684/epd.2011.0477DOI Listing
December 2011