Faculty Information - Mitsuo Masuno

■ BooK

1.

2013/01

Down syndrome (trisomy 21 syndrome)「TODAY'S THERAPY 2013」

■ Journal

1.	2023/03/16	Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
2.	2022/09	Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
3.	2022/05	Further delineation of SET-related intellectual disability syndrome.
4.	2021/07/01	6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.
5.	2020/10	Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
6.	2020/06	Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.
7.	2020/03	Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.
8.	2019/10/21	Novel USP9X variants in two patients with X-linked intellectual disability.
9.	2019/08/08	Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.
10.	2015/02	Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features
11.	2014/06	De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
12.	2013/09	Pure duplication of 19p13.3.
13.	2012/12	Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene.
14.	2012/09	Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
15.	2012/06	Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).
16.	2012/06	Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
17.	2012/01	Trends in occurrence of twin births in Japan.
18.	2009/06	Severe upper airway stenosis in a boy with partial monosomy 16p13.3-pter and partial trisomy 16q22-qter.
19.	2009/03	Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature.
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■ Presentation

1.	2018/10/19	Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability. （Poster notice，General）
2.	2017/10/20	TMEPAI mutation causes MFS/LDS-like phenotypes in 2 Japanese families. （Poster notice，General）
3.	2016/04/04	Clinical and neuroimaging findings of an incomplete form of Moebius syndrome （Poster notice，General）
4.	2015/06/12	Brain imaging analysis in Moebius syndrome （Poster notice，General）
5.	2013/06/21	Genetic counseling documentation by FileMaker Pro 11 （Speech，General）
6.	2013/06/21	Information for the initial discussion of a postnatal diagnosis of Down syndrome: A proposal to healthcare providers （Poster notice，General）
7.	2013/10/23	Targeted next-generation sequencing for the molecular genetic diagnostics of mandibulofacial dysostosis. （Poster notice，General）
8.	2012/11	Trio-exome sequencing identifies mutations of the gene encoding the histone acetyltransferase KAT6B/MYST4 in individuals with the Young-Simpson syndrome. （Poster notice，General）
9.	2011/06/18	Report of support for hereditary and intractable neurological disease patients （Poster notice，General）
10.	2011/06/18	Development of comprehensive information for genetic counseling in Japan （Poster notice，General）
11.	2011/06/18	preliminary guidebook of genetic disease for patients and relatives （Poster notice，General）
12.	2011/05	Estimation of prevalence of malformation syndrome by population-based birth defects monitoring system in Japan. （Poster notice，General）
13.	2010/11	Trends of the incidence of twin births in Japan. （Poster notice，General）
14.	2010/11	Follow-up and Management of Young-Simpson Syndrome. （Poster notice，General）
15.	2010/05/29	Current Situation of the Certified Genetic Counselors in japan, 2010 （Speech，General）
16.	2010/05/28	Construction of resources in genetic counseling in Japan （Speech，General）
17.	2023/10/13	A case of 9q22.32q31.2 deletion involving ZNF462 （Poster notice，General）
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■ Belonging society

1.

～2021/12

The European Society of Human Genetics