A. Nishiyama

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.

Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.

Y. Takeshima, M. Matsuo, A. Nishiyama, 2006, The Kobe journal of medical sciences.

A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2005, Journal of Human Genetics.

Modified setting of negative pressure in children with mild respiratory disease

A. Nishiyama, Shingo Ishimori, Shizuka Nagase, 2020, Pediatrics international : official journal of the Japan Pediatric Society.

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.

Intravenous Infusion of an Antisense Oligonucleotide Results in Exon Skipping in Muscle Dystrophin mRNA of Duchenne Muscular Dystrophy

Y. Takeshima, M. Matsuo, T. Sakaeda, 2006, Pediatric Research.

A case of anti-GA1 antibody-positive Fisher syndrome with elevated tau protein in cerebrospinal fluid

T. Shiihara, S. Kusunoki, A. Nishiyama, 2012, Brain and Development.

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.

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2006, Human Genetics.

Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.

Y. Takeshima, M. Matsuo, Wakako Ogino, 2007, The Kobe journal of medical sciences.

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2006, Journal of Medical Genetics.

Dystrophin Nonsense Mutations Can Generate Alternative Rescue Transcripts in Lymphocytes

Y. Takeshima, M. Matsuo, A. Nishiyama, 2008, Annals of human genetics.

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Y. Takeshima, M. Matsuo, K. Saiki, 2007, BMC Medical Genetics.

FamilialCasesofPeriodicFeverwithAphthousStomatitis,Pharyngitis,and Cervical Adenitis Syndrome

T. Heike, A. Nishiyama, R. Nishikomori, 2011 .

Familial cases of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome.

T. Heike, A. Nishiyama, R. Nishikomori, 2011, The Journal of pediatrics.

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2007, Journal of Human Genetics.

False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight

H. Awano, A. Nishiyama, K. Iijima, 2020, Molecular genetics and metabolism reports.

Clinical characteristics of relapsing idiopathic nephrotic syndrome associated with influenza virus infection or influenza virus vaccine in six pediatric patients

A. Nishiyama, J. Fujimura, Shingo Ishimori, 2017 .

Clinical prediction rule for neurological sequelae due to acute encephalopathy: a medical community-based validation study in Harima, Japan

T. Takumi, A. Nishiyama, K. Iijima, 2017, BMJ Open.

Surface smoothing of CVD-diamond membrane for X-ray lithography by Gas Cluster Ion Beam

I. Yamada, J. Matsuo, A. Nishiyama, 1999 .

[Efficacy of topiramate in childhood epilepsies].

A. Nishiyama, A. Ishida, Y. Oyazato, 2010, No to hattatsu = Brain and development.