Y. Okizuka

发表

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

Y. Takeshima, M. Matsuo, K. Saiki, 2007, The Kobe journal of medical sciences.

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

Zhujun Zhang, Y. Takeshima, H. Nishio, 2010, Journal of Human Genetics.

Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients.

Y. Takeshima, M. Matsuo, K. Saiki, 2008, Clinica chimica acta; international journal of clinical chemistry.

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Y. Takeshima, M. Matsuo, H. Awano, 2013, Gene.

Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations

Y. Takeshima, M. Matsuo, T. Maeda, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy.

Y. Takeshima, M. Matsuo, H. Awano, 2008, Pediatric neurology.

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA

Y. Takeshima, M. Matsuo, H. Awano, 2010, Journal of Human Genetics.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2010, BMC Medical Genetics.

Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2009, Journal of Human Genetics.

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2008, Journal of Human Genetics.

Effect of CPS14217C>A genotype on valproic‐acid‐induced hyperammonemia

M. Matsuo, T. Sakaeda, K. Okumura, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G→A mutations in introns of the dystrophin gene

Y. Takeshima, M. Matsuo, K. Saiki, 2008, Journal of Medical Genetics.

Molecular characterization of the 5′-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity

Y. Takeshima, M. Matsuo, Noriyuki Nishimura, 2010, Molecular vision.

Treatment of preterm infants with West syndrome: Differences due to etiology

M. Matsuo, T. Nakagawa, Y. Okizuka, 2012, Pediatrics International.

Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.

Y. Takeshima, M. Matsuo, H. Awano, 2009, Genetic testing and molecular biomarkers.