Kayoko Saito

Kayoko Saito

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Kayoko Saito

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Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E.

Congenit Anom (Kyoto) 2019 May 17;59(3):102-103. Epub 2018 Jul 17.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12301DOI Listing
May 2019

Association between rs4149056 and tegafur-uracil-induced hepatic dysfunction in breast cancer.

Pharmacogenomics 2019 Apr 8;20(5):353-365. Epub 2019 Feb 8.

Department of Surgery II, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

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https://www.futuremedicine.com/doi/10.2217/pgs-2018-0100
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http://dx.doi.org/10.2217/pgs-2018-0100DOI Listing
April 2019

Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.

Brain Dev 2019 Jan 1;41(1):43-49. Epub 2018 Aug 1.

Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.07.012DOI Listing
January 2019

Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan.

Brain Dev 2019 Jan 6;41(1):36-42. Epub 2018 Aug 6.

Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Hyogo, Japan; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Hyogo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.07.016DOI Listing
January 2019

Familial campomelic dysplasia due to maternal germinal mosaicism.

Congenit Anom (Kyoto) 2018 Nov 2;58(6):194-197. Epub 2018 Apr 2.

Department of Obstetrics and Gynecology, Gunma University, Graduate School of Medicine, Gunma, Japan.

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http://dx.doi.org/10.1111/cga.12279DOI Listing
November 2018

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.

Brain Dev 2018 Sep 23;40(8):670-677. Epub 2018 Mar 23.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

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http://dx.doi.org/10.1016/j.braindev.2018.03.001DOI Listing
September 2018

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

J Hum Genet 2018 Mar 10;63(3):281-287. Epub 2018 Jan 10.

Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

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http://dx.doi.org/10.1038/s10038-017-0388-5DOI Listing
March 2018

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

N Engl J Med 2018 02;378(7):625-635

From the Department of Pediatric Neurology, Catholic University, Rome (E.M., E.S.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (R.F., S.G., W.F.) - both in Massachusetts; the Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Medical Center, New York; the Department of Neurology, Stanford School of Medicine, Stanford (J.W.D.), David Geffen School of Medicine at University of California, Los Angeles, Los Angeles (P.B.S.), and Ionis Pharmaceuticals, Carlsbad (K.M.B., Q.Y., C.F.B., E.S.) - all in California; Children's Hospital-London Health Sciences Centre, London, ON, Canada (C.C.); the Department of Neurology, Washington University School of Medicine, St. Louis (A.M.C.); the Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas (S.T.I.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); and the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.).

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http://dx.doi.org/10.1056/NEJMoa1710504DOI Listing
February 2018

SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.

Kobe J Med Sci 2017 Dec 18;63(3):E80-E83. Epub 2017 Dec 18.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826024PMC
December 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

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.

J Hum Genet 2017 Nov 6;62(11):945-948. Epub 2017 Jul 6.

Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1038/jhg.2017.71DOI Listing
November 2017

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

N Engl J Med 2017 11;377(18):1723-1732

From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).

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http://www.nejm.org/doi/10.1056/NEJMoa1702752
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http://dx.doi.org/10.1056/NEJMoa1702752DOI Listing
November 2017

Learning colorectal endoscopic submucosal dissection: a prospective learning curve study using a novel ex vivo simulator.

Surg Endosc 2017 10 9;31(10):4231-4237. Epub 2017 Mar 9.

Department of Anesthesia, Critical Care and Pain Medicine, Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1007/s00464-017-5484-2DOI Listing
October 2017

Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients.

Brain Dev 2017 Oct 7;39(9):763-773. Epub 2017 Jun 7.

Affiliated Field of Medical Genetics, Division of Biomedical Engineering and Science, Graduate Course of Medicine, Graduate School of Tokyo Women's Medical University, Shinjuku, Tokyo, Japan; Institute of Medical Genetics, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2017.04.018DOI Listing
October 2017

New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.

Kobe J Med Sci 2017 Sep 7;63(2):E37-E40. Epub 2017 Sep 7.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826017PMC
September 2017

Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.

J Genet Couns 2017 Jun 9;26(3):628-639. Epub 2016 Nov 9.

Institute of Medical Genetics, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo, 162-0054, Japan.

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http://dx.doi.org/10.1007/s10897-016-0038-7DOI Listing
June 2017

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

Brain Dev 2017 Feb 23;39(2):177-181. Epub 2016 Sep 23.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.08.008DOI Listing
February 2017

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.

Neuromuscul Disord 2017 Jan 20;27(1):45-49. Epub 2016 Sep 20.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawadacho, Shinjuku-ku, Tokyo 162-8666, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.09.014DOI Listing
January 2017

Alternative splicing of a cryptic exon embedded in intron 6 of and .

Hum Genome Var 2016 1;3:16040. Epub 2016 Dec 1.

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

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http://dx.doi.org/10.1038/hgv.2016.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131094PMC
December 2016

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.

J Hum Genet 2016 Nov 30;61(11):931-942. Epub 2016 Jun 30.

Affiliated Field of Medical Genetics, Division of Biomedical Engineering and Science, Graduate School of Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.79DOI Listing
November 2016

Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron Protein Expression in Patients With Spinal Muscular Atrophy.

Pediatr Neurol 2016 08 26;61:70-5. Epub 2016 May 26.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Affiliated Field of Medical Genetics, Division of Biomedical Engineering and Science, Graduate Course of Medicine, Graduate School of Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.05.009DOI Listing
August 2016

Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5.

Hum Genome Var 2016 14;3:16022. Epub 2016 Jul 14.

Tokyo Women's Medical University Institute of Medical Genetics, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Science, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2016.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944010PMC
July 2016

Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.

Pediatr Neurol 2016 05 30;58:83-9. Epub 2016 Jan 30.

Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.01.019DOI Listing
May 2016

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

Am J Med Genet A 2016 Apr 18;170A(4):1029-34. Epub 2016 Jan 18.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37517DOI Listing
April 2016

Respiratory management of patients with Fukuyama congenital muscular dystrophy.

Brain Dev 2016 Mar 9;38(3):324-30. Epub 2015 Sep 9.

Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.08.010DOI Listing
March 2016

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.

Brain Dev 2015 Aug 31;37(7):669-76. Epub 2014 Oct 31.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0871, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.10.006DOI Listing
August 2015

Diagnostic use of surface EMG in a patient with spinal muscular atrophy.

Muscle Nerve 2015 Jul 28;52(1):153-4. Epub 2015 May 28.

Department of Neurology, Teikyo University School of Medicine, Itabashi-ku, Tokyo, Japan.

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http://dx.doi.org/10.1002/mus.24643DOI Listing
July 2015

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

Pediatr Neurol 2015 Jun 28;52(6):638-41. Epub 2015 Feb 28.

Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.02.023DOI Listing
June 2015

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

J Hum Genet 2015 May 26;60(5):233-9. Epub 2015 Feb 26.

1] Branch of Genetic Medicine, Advanced Biomedical Engineering and Science, Graduate School of Medicine and Global Center of Excellence (COE) program, Tokyo Women's Medical University, Tokyo, Japan [2] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2015.16DOI Listing
May 2015

Prospective randomized comparison of gastrotomy closure associating tunnel access and over-the-scope clip (OTSC) with two other methods in an experimental ex vivo setting.

Endosc Int Open 2015 Feb 12;3(1):E83-9. Epub 2014 Nov 12.

Department of Medicine, Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA ; Department of Anesthesiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1055/s-0034-1390794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423288PMC
February 2015

Erratum: Prospective randomized comparison of gastrotomy closure associating tunnel access and over-the-scope clip (OTSC) with two other methods in an experimental ex vivo setting.

Endosc Int Open 2015 Feb;3(1):E90

Department of Medicine, Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA ; Department of Anesthesiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1055/s-0035-1547013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424865PMC
February 2015

A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry.

Biochem Biophys Res Commun 2014 Oct 27;453(3):368-74. Epub 2014 Sep 27.

Institute of Microbial Chemistry (BIKAKEN), Tokyo, 3-14-23 Kamiosaki, Shinagawa-ku, Tokyo 141-0021, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2014.09.087DOI Listing
October 2014

Corticosteroid therapy for duchenne muscular dystrophy: improvement of psychomotor function.

Pediatr Neurol 2014 Jan 15;50(1):31-7. Epub 2013 Oct 15.

Affiliated Field of Genetic Medicine, Division of Biomedical Engineering and Science, Graduate Course of Medicine, Graduate School of Tokyo Women's Medical University, Tokyo, Japan; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.07.022DOI Listing
January 2014

Spinal muscular atrophy: from gene discovery to clinical trials.

Ann Hum Genet 2013 Sep 23;77(5):435-63. Epub 2013 Jul 23.

Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan.

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http://dx.doi.org/10.1111/ahg.12031DOI Listing
September 2013

Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol 2013 Sep;116(3):348-53

Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.

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http://dx.doi.org/10.1016/j.oooo.2013.06.017DOI Listing
September 2013

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features.

Mol Cytogenet 2013 Apr 3;6(1):15. Epub 2013 Apr 3.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.

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http://dx.doi.org/10.1186/1755-8166-6-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626894PMC
April 2013

Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

Muscle Nerve 2013 Feb 28;47(2):283-6. Epub 2012 Dec 28.

Department of Neurology, Tokyo Women's Medical University School of Medicine, Kawada-cho 8-1, Shinjuku-ku, Tokyo, Japan.

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http://dx.doi.org/10.1002/mus.23540DOI Listing
February 2013

Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography.

Congenit Anom (Kyoto) 2012 Dec;52(4):203-6

Institute of Medical Genetics Department of Obstetrics and Gynecology, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1741-4520.2011.00346.xDOI Listing
December 2012

[A case of spinal muscular atrophy type 0 in Japan].

No To Hattatsu 2012 Sep;44(5):387-91

Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo.

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September 2012

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

Biochim Biophys Acta 2012 Jul 14;1822(7):1096-108. Epub 2012 Apr 14.

Academic Medical Center, Emma Children's Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.001DOI Listing
July 2012

An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel.

Cancer Chemother Pharmacol 2012 Jun 6;69(6):1617-24. Epub 2012 May 6.

Affiliated Field of Medical Genetics, Division of Biomedical Engineering and Science, Graduate Course of Medicine, Graduate School of Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

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http://dx.doi.org/10.1007/s00280-012-1872-4DOI Listing
June 2012

Human first-trimester chorionic villi have a myogenic potential.

Cell Tissue Res 2012 Apr 28;348(1):189-97. Epub 2012 Feb 28.

Affiliated Field of Medical Genetics, Division of Biomedical Engineering and Science, Graduate Course of Medicine, Graduate School of Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1007/s00441-012-1340-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3316778PMC
April 2012

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.

Am J Med Genet A 2012 Feb 13;158A(2):351-7. Epub 2012 Jan 13.

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

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http://dx.doi.org/10.1002/ajmg.a.34421DOI Listing
February 2012

[Cell fusion as a key mechanism for cell-based therapy towards Duchenne muscular dystrophy].

Seikagaku 2012 Feb;84(2):134-8

Center for Regenerative Medicine, National Rsearch Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.

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February 2012

A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.

Am J Med Genet B Neuropsychiatr Genet 2011 Dec 2;156B(7):799-807. Epub 2011 Aug 2.

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

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http://dx.doi.org/10.1002/ajmg.b.31221DOI Listing
December 2011

New insights into the pathogenesis of spinal muscular atrophy.

Brain Dev 2011 Apr;33(4):321-31

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2010.06.009DOI Listing
April 2011

Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010 Aug;110(2):e41-6

Department of Oral and Maxillofacial Surgery and Institute of Advanced Biomedical Engineering and Science, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S10792104100023
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http://dx.doi.org/10.1016/j.tripleo.2010.04.006DOI Listing
August 2010

[Carrier diagnosis and genetic counseling].

Authors:
Kayoko Saito

Nihon Rinsho 2010 Aug;68 Suppl 8:183-8

Institute of Medical Genetics, Tokyo Women's Medical University.

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August 2010

Cells of extraembryonic mesodermal origin confer human dystrophin in the mdx model of Duchenne muscular dystrophy.

J Cell Physiol 2010 Jun;223(3):695-702

Department of Reproductive Biology, National Institute for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1002/jcp.22076DOI Listing
June 2010

Genomic copy number variations at 17p13.3 and epileptogenesis.

Epilepsy Res 2010 May 12;89(2-3):303-9. Epub 2010 Mar 12.

International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.02.002DOI Listing
May 2010

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.

Am J Med Genet A 2009 Aug;149A(8):1818-22

International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32963DOI Listing
August 2009

Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

J Hum Genet 2009 Jul 12;54(7):398-402. Epub 2009 Jun 12.

Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2009.51DOI Listing
July 2009

[Gene mutation and genetic counseling].

Nihon Rinsho 2009 Jun;67(6):1191-6

Institute of Medical Genetics, Tokyo Women's Medical University.

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June 2009

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease).

Neuropathology 2009 Feb 11;29(1):63-7. Epub 2008 Apr 11.

Department of Neurology, Suzuka National Hospital, Suzuka-shi, Mie, Japan.

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http://dx.doi.org/10.1111/j.1440-1789.2008.00910.xDOI Listing
February 2009

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

J Hum Genet 2009 Feb 16;54(2):94-7. Epub 2009 Jan 16.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

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http://dx.doi.org/10.1038/jhg.2008.13DOI Listing
February 2009

Three patients with severe bilateral frontoparietal polymicrogyria.

Pediatr Neurol 2008 May;38(5):353-6

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.12.013DOI Listing
May 2008

Mowat-Wilson syndrome affecting 3 siblings.

J Child Neurol 2008 Mar 29;23(3):274-8. Epub 2008 Jan 29.

Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo.

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http://dx.doi.org/10.1177/0883073807309231DOI Listing
March 2008

[Genetic counseling in child neurology].

Authors:
Kayoko Saito

No To Hattatsu 2007 Nov;39(6):417-22

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo.

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November 2007

TRH therapy in a patient with juvenile Alexander disease.

Brain Dev 2006 Nov 13;28(10):663-7. Epub 2006 Jun 13.

Tokyo Women's Medical University, School of Medicine, Department of Pediatrics, 8-1 Kawadacho, 162-8666 Shinjuku-ku, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2006.05.001DOI Listing
November 2006

The mildest known case of Fukuyama-type congenital muscular dystrophy.

Brain Dev 2006 Sep 17;28(8):537-40. Epub 2006 Apr 17.

Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

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http://dx.doi.org/10.1016/j.braindev.2006.02.003DOI Listing
September 2006

Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy.

Circ J 2006 Aug;70(8):991-4

Department of Pediatric Cardiology, Tokyo Women's Medical University, Japan.

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http://dx.doi.org/10.1253/circj.70.991DOI Listing
August 2006

Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation.

Pediatr Int 2006 Aug;48(4):409-12

Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2006.02231.xDOI Listing
August 2006

Cardiac involvement in Fukuyama-type congenital muscular dystrophy.

Pediatrics 2006 Jun 22;117(6):e1187-92. Epub 2006 May 22.

Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University, Shinjuku, Tokyo, 162-8666, Japan.

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http://dx.doi.org/10.1542/peds.2005-2469DOI Listing
June 2006

Unified method for Bayesian calculation of genetic risk.

J Hum Genet 2006 10;51(4):387-90. Epub 2006 Feb 10.

Institute of Rheumatology, Tokyo Women's Medical University, Tokyo, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-006-0371-z
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http://dx.doi.org/10.1007/s10038-006-0371-zDOI Listing
May 2006

Prenatal diagnosis of Fukuyama congenital muscular dystrophy.

Authors:
Kayoko Saito

Prenat Diagn 2006 May;26(5):415-7

Institute of Medical Genetics, Tokyo Women's Medical University, 10-22 Kawadacho, Shinjuku, Tokyo 162-0054, Japan.

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http://dx.doi.org/10.1002/pd.1426DOI Listing
May 2006

[Consideration of preimplantation genetic diagnosis from a pediatrician's point of view].

Authors:
Kayoko Saito

No To Hattatsu 2006 Mar;38(2):107-10

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March 2006

Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains.

Brain Res 2006 Feb 7;1075(1):223-8. Epub 2006 Feb 7.

Department of Pediatrics, Tokyo Women's Medical University, Japan.

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http://dx.doi.org/10.1016/j.brainres.2005.12.108DOI Listing
February 2006

[Muscular dystrophy].

Nihon Rinsho 2005 Mar;63(3):420-8

Department of Pediatrics, Tokyo Women' s Medical University.

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March 2005

[Prenatal diagnosis for neuromuscular diseases].

Authors:
Kayoko Saito

No To Shinkei 2004 Dec;56(12):1008-15

Institute of Medical Genetics, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan.

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December 2004

Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings.

Brain Dev 2004 Jan;26(1):53-6

Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan.

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January 2004

Continuous culture of novel mitochondrial cells lacking nuclei.

Mitochondrion 2003 Aug;3(1):21-7

Department of Pediatrics, Tokyo Women's Medical University, 8-1, Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S156772490300056
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http://dx.doi.org/10.1016/S1567-7249(03)00056-4DOI Listing
August 2003

[Nation-wide survey on muscle glycogen storage disease (MGSDs) and comparison with our experiences in diagnosis of MGSDs].

Rinsho Shinkeigaku 2003 May;43(5):243-8

Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine.

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May 2003

A review of functional and structural components of the respiratory center involved in the arousal response.

Sleep Med 2002 Dec;3 Suppl 2:S71-4

Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

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December 2002