Publications by authors named "Mari Matsuo"

21Publications

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Effect of dietary fatty acid and micronutrient intake/energy ratio on serum diamine oxidase activity in healthy women.

Nutrition 2017 Jul - Aug;39-40:67-70. Epub 2017 Mar 28.

Division of Nutrition and Metabolism, Kobe University Graduate School of Health Sciences, Kobe, Japan; Department of Nutrition, Kobe University Hospital, Kobe University School of Medicine, Kobe, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nut.2017.03.004DOI Listing
February 2018

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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

Am J Med Genet A 2011 Jan 10;155A(1):113-9. Epub 2010 Dec 10.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33735DOI Listing
January 2011

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.

View Article

Download full-text PDF

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

[Gene mutation and genetic counseling].

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

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

View Article

Download full-text PDF

Source
June 2009

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.

View Article

Download full-text PDF

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

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.

Am J Med Genet A 2006 Mar;140(6):633-5

Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31112DOI Listing
March 2006

Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.

Brain Dev 2005 Jun 9;27(4):311-7. Epub 2004 Dec 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2004.09.010DOI Listing
June 2005

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

Am J Med Genet 2002 Jan;107(1):58-60

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10080DOI Listing
January 2002