教員情報 - 徳富　智明

現在の専門分野

学術雑誌

所属学会

（最終更新日：2024-04-18 15:45:43）

  トクトミ　トモハル   Tomoharu Tokutomi
  徳富　智明
   所属   川崎医科大学医学部臨床医学　小児科学

職種特任教授

■ 現在の専門分野

分子遺伝疫学, 遺伝・先天異常学, ゲノム医科学, 個別化医療　（キーワード：臨床遺伝学、家系図、家族歴、Dysmorphology、遺伝カウンセリング、ゲノムリテラシー、リスク・コミュニケーション、Precision medicine）

■ 学術雑誌

1.	2024/03/21	原著	The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia
2.	2023/12/28	原著	Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases
3.	2023/08	原著	Recontact: a survey of current practices and BRCA1/2 testing in Japan.
4.	2023/03/28	原著	Japanese Translation and Validation of Genomic Knowledge Measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK).
5.	2022/12/16	原著	De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
6.	2022/05	原著	Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
7.	2022/01	原著	The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
8.	2021/06	原著	Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
9.	2021/01/05	原著	Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study.
10.	2018/11	原著	A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop.
11.	2017/12	原著	Population-based biobank participants' preferences for receiving genetic test results.
12.	2017/07/14	原著	f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.
13.	2012/01/20	原著	Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.
14.	2009/11	原著	A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation.
15.	2007/06/15	原著	dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.
16.	2006/09/15	原著	A non-obese boy with Prader-Willi syndrome shows cardiopulmonary impairment due to severe kyphoscoliosis.
17.	2006/09	原著	Quest for the diagnosis - Case 2: Fever, rash and pulmonary involvement - Diagnosis: Bronchogenic cyst occluding the trachea
18.	2005/06	原著	Standard-dose and short-term corticosteroid therapy in immunoglobulin-resistant Kawasaki disease.
19.	2003/03	原著	Circulating endothelial cells in Kawasaki disease
20.	2002/09	原著	過去10年間(1991～2000年)に防衛医科大学校病院に入院した川崎病患児262人の臨床的検討
21.	2002/05	原著	Intravenous immunoglobulin therapy induces neutrophil apoptosis in Kawasaki disease.
22.	2002	原著	Characteristic profile of intestinal microflora in Kawasaki disease
23.	2001/11	原著	Delayed apoptosis of circulating neutrophils in Kawasaki disease
24.	2001/08	原著	Elevated serum levels of matrix metalloproteinase-9 (MMP-9) in Kawasaki disease
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■ 所属学会

1.		American College of Medical Genetics and Genomics (ACMG)
2.		American Society of Human Genetics (ASHG)
3.		European Society of Human Genetics (ESHG)
4.		Global Alliance for Genomics and Health (GA4GH)
5.		Global Genomic Medicine Consortium (G2MC)
6.		日本ミトコンドリア学会
7.		日本遺伝カウンセリング学会
8.		日本遺伝子診療学会
9.		日本遺伝性腫瘍学会
10.		日本医師会
11.		日本環境感染学会
12.		日本災害医学会
13.		日本小児遺伝学会
14.		日本小児科学会
15.		日本人類遺伝学会
16.		日本先天異常学会
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