Publications by authors named "Tomonari Awaya"

42Publications

Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome.

Neuropsychopharmacology 2020 09 18;45(10):1627-1636. Epub 2020 Apr 18.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.1038/s41386-020-0675-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419304PMC
September 2020

Dysregulation of the oxytocin receptor gene in Williams syndrome.

Psychoneuroendocrinology 2020 05 20;115:104631. Epub 2020 Feb 20.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.psyneuen.2020.104631DOI Listing
May 2020

MicroRNA profiling in adults with high-functioning autism spectrum disorder.

Mol Brain 2019 10 21;12(1):82. Epub 2019 Oct 21.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8501, Japan.

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http://dx.doi.org/10.1186/s13041-019-0508-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802322PMC
October 2019

An epigenetic biomarker for adult high-functioning autism spectrum disorder.

Sci Rep 2019 09 20;9(1):13662. Epub 2019 Sep 20.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, 606-8501, Japan.

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http://www.nature.com/articles/s41598-019-50250-9
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http://dx.doi.org/10.1038/s41598-019-50250-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754433PMC
September 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.

J Hum Genet 2019 May 8;64(5):445-458. Epub 2019 Mar 8.

Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, 606-8507, Japan.

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http://dx.doi.org/10.1038/s10038-019-0574-8DOI Listing
May 2019

Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma.

Front Genet 2018 4;9:368. Epub 2018 Sep 4.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.3389/fgene.2018.00368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131482PMC
September 2018

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.

Sci Rep 2017 10 18;7(1):13473. Epub 2017 Oct 18.

Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, 606-8507, Japan.

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http://dx.doi.org/10.1038/s41598-017-14063-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647434PMC
October 2017

Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice.

Proc Natl Acad Sci U S A 2017 09 5;114(38):10268-10273. Epub 2017 Sep 5.

Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan;

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http://dx.doi.org/10.1073/pnas.1704143114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617268PMC
September 2017

Spinal muscular atrophy carriers with two SMN1 copies.

Brain Dev 2017 Nov 1;39(10):851-860. Epub 2017 Jul 1.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604173017
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http://dx.doi.org/10.1016/j.braindev.2017.06.002DOI Listing
November 2017

Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report.

Brain Dev 2016 Apr 21;38(4):431-4. Epub 2015 Oct 21.

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

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http://dx.doi.org/10.1016/j.braindev.2015.10.004DOI Listing
April 2016

Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.

Sci Rep 2015 Aug 20;5:12831. Epub 2015 Aug 20.

Department of Growth Regulation, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1038/srep12831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642533PMC
August 2015

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

Neurology 2015 Apr 27;84(16):1714-6. Epub 2015 Mar 27.

From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000001499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409585PMC
April 2015

A granulocytosis associated with rufinamide: A case report.

Brain Dev 2015 Sep 22;37(8):825-8. Epub 2015 Jan 22.

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

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http://dx.doi.org/10.1016/j.braindev.2014.12.010DOI Listing
September 2015

A boy with unilateral neck myoclonus of cortical origin independently on both sides.

Seizure 2015 Jan 23;24:131-3. Epub 2014 Jul 23.

Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1016/j.seizure.2014.07.010DOI Listing
January 2015

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?

Am J Med Genet A 2014 Jul 14;164A(7):1830-4. Epub 2014 Apr 14.

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

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http://dx.doi.org/10.1002/ajmg.a.36546DOI Listing
July 2014

Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy.

Seizure 2013 Dec 17;22(10):913-5. Epub 2013 Jul 17.

Department of Pediatrics, Kyoto University Hospital, 54 Shogoin-Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2013.06.012DOI Listing
December 2013

MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy.

Brain Dev 2013 Nov 20;35(10):921-4. Epub 2012 Dec 20.

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2012.11.011DOI Listing
November 2013

Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy.

Pediatr Transplant 2012 Dec 21;16(8):E388-91. Epub 2012 Jun 21.

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

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http://dx.doi.org/10.1111/j.1399-3046.2012.01748.xDOI Listing
December 2012

Brain atrophy caused by vitamin B12-deficient anemia in an infant.

J Pediatr Hematol Oncol 2011 Oct;33(7):556-8

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

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http://dx.doi.org/10.1097/MPH.0b013e31821e5290DOI Listing
October 2011

Variations in early gross motor milestones and in the age of walking in Japanese children.

Pediatr Int 2011 Dec;53(6):950-5

Osaka Research Group, Japan Children's Study, Japan Science and Technology Agency, Osaka, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2011.03423.xDOI Listing
December 2011

Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells.

FASEB J 2010 Jul 24;24(7):2245-53. Epub 2010 Feb 24.

Department of Pediatrics, Graduate School of Medicine, Kyoto University 54 Kawahara-cho, Shogoin, Sakyo-ku Kyoto 606-8507, Japan.

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http://dx.doi.org/10.1096/fj.09-137174DOI Listing
July 2010

Deterioration on magnetic resonance imaging despite good clinical recovery after viral encephalitis.

Pediatr Neurol 2008 Mar;38(3):218-20

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.10.010DOI Listing
March 2008