Cohort profile: Tohoku medical megabank project birth and three-generation cohort study (TMM BirThree cohort study): rationale, progress and perspective
Although a large sample size is useful for the elucidation of what is called 'missing
heritability', which is an unexplained part of a total phenotypic variance in a quantitative trait …
heritability', which is an unexplained part of a total phenotypic variance in a quantitative trait …
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature
T Kosho, N Okamoto, H Ohashi… - American journal of …, 2013 - Wiley Online Library
Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)‐like
chromatin remodeling complex have recently been reported to cause Coffin–Siris syndrome …
chromatin remodeling complex have recently been reported to cause Coffin–Siris syndrome …
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Y Tsurusaki, N Okamoto, H Ohashi, T Kosho, Y Imai… - Nature …, 2012 - nature.com
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with
typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As …
typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As …
Germline mutations in HRAS proto-oncogene cause Costello syndrome
Y Aoki, T Niihori, H Kawame, K Kurosawa, H Ohashi… - Nature …, 2005 - nature.com
Costello syndrome is a multiple congenital anomaly and mental retardation syndrome
characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We …
characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We …
[PDF][PDF] Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Y Aoki, T Niihori, T Banjo, N Okamoto, S Mizuno… - The American Journal of …, 2013 - cell.com
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation,
survival, and differentiation. Recent studies have revealed that germline mutations and …
survival, and differentiation. Recent studies have revealed that germline mutations and …
The Tohoku medical megabank project: design and mission
S Kuriyama, N Yaegashi, F Nagami, T Arai… - Journal of …, 2016 - jstage.jst.go.jp
ABSTRACT The Great East Japan Earthquake (GEJE) and resulting tsunami of March 11,
2011 gave rise to devastating damage on the Pacific coast of the Tohoku region. The …
2011 gave rise to devastating damage on the Pacific coast of the Tohoku region. The …
Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment
T Kosho, T Nakamura, H Kawame… - American journal of …, 2006 - Wiley Online Library
Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis
and the lack of precise clinical information concerning efficacy of treatment. To delineate the …
and the lack of precise clinical information concerning efficacy of treatment. To delineate the …
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
M Aramaki, T Udaka, R Kosaki, Y Makita… - The Journal of …, 2006 - Elsevier
CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to
have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the …
have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the …
Kabuki syndrome: international consensus diagnostic criteria
MP Adam, S Banka, HT Bjornsson… - Journal of medical …, 2019 - jmg.bmj.com
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …
Phenotypic spectrum and management issues in Kabuki syndrome
H Kawame, MC Hannibal, L Hudgins, RA Pagon - The Journal of pediatrics, 1999 - Elsevier
Objective: To report the phenotypic spectrum and management issues of children with
Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. Design: A case series of …
Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. Design: A case series of …