Y. Yamada

发表

Late infantile Hirschsprung disease–mental retardation syndrome with a 3-bp deletion in ZFHX1B

N. Wakamatsu, M Nagaya, M. Kishikawa, 2002, Neurology.

Molecular analysis of a Japanese family with Lesch‐Nyhan syndrome: identification of mutation and prenatal diagnosis

Y. Yamada, H. Goto, K. Suzumori, 1996, Clinical genetics.

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1

K. Tanaka, N. Wakamatsu, T. Yamanaka, 2004, Journal of Medical Genetics.

AMP deaminase isozymes in human tissues.

T. Watanabe, Y. Yamada, H. Goto, 1982, Biochimica et biophysica acta.

Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population

N. Wakamatsu, S. Fujimori, K. Kaneko, 2011, Nucleosides, nucleotides & nucleic acids.

NUCLEOSIDES, NUCLEOTIDES & NUCLEIC ACIDS

N. Wakamatsu, Y. Yamada, K. Yamada, 2004 .

Identification of two independent Japanese mutant HPRT genes using the PCR technique.

Y. Yamada, H. Goto, N. Ogasawara, 1991, Advances in experimental medicine and biology.

Adenosine kinase from human liver.

Y. Yamada, H. Goto, N. Ogasawara, 1981, Biochimica et biophysica acta.

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

N. Nomura, K. Kato, R. Wakako, 2001, American journal of human genetics.

Cochlear histopathology of the mutant bustling mouse, BUS/Idr.

Y. Nodasaka, R. Shoji, T. Kamada, 1996, Acta oto-laryngologica.

Characterization of the Solubilized GABA and Benzodiazepine Receptors from Various Regions of Bovine Brain

T. Asano, Y. Yamada, Yasukazu Yamada, 1983, Journal of neurochemistry.

IMP dehydrogenase and action of antimetabolites in human cultured blast cells.

Y. Yamada, M. Yoshino, H. Goto, 1990, Biochimica et biophysica acta.

Phosphorylation of purine deoxynucleosides in human T- and B-lymphoblasts.

Y. Yamada, H. Goto, N. Ogasawara, 1986, Advances in experimental medicine and biology.

Deoxyguanosine kinase from human placenta.

Y. Yamada, H. Goto, N. Ogasawara, 1982, Biochimica et biophysica acta.

Differences of adenosine kinases from various mammalian tissues.

Y. Yamada, H. Goto, N. Ogasawara, 1982, Comparative biochemistry and physiology. B, Comparative biochemistry.

Purification and properties of adenosine kinase from rat brain.

Y. Yamada, H. Goto, N. Ogasawara, 1980, Biochimica et biophysica acta.

Three trypsinogens from rat pancreas

T. Watanabe, Y. Yamada, H. Goto, 1980, FEBS letters.

Purine nucleoside kinases in human T- and B-lymphoblasts.

Y. Yamada, H. Goto, N. Ogasawara, 1983, Biochimica et biophysica acta.

Molecular Characterization of a Deletion in the HPRT1 Gene in a Patient with Lesch–Nyhan Syndrome

H. Yamanaka, M. Hakoda, Y. Yamada, 2011, Nucleosides, nucleotides & nucleic acids.

Distribution of AMP-deaminase isozymes in rat tissues.

T. Watanabe, Y. Yamada, H. Goto, 1978, European journal of biochemistry.

Distribution of AMP deaminase isozymes in various human blood cells.

T. Watanabe, Y. Yamada, H. Goto, 1984, The International journal of biochemistry.

Effects of various ligands on interaction of AMP deaminase with myosin.

Y. Yamada, H. Goto, N. Ogasawara, 1978, Biochimica et biophysica acta.

AMP deaminase isozymes in rabbit red and white muscles and heart.

Y. Yamada, H. Goto, N. Ogasawara, 1983, Comparative biochemistry and physiology. B, Comparative biochemistry.

Gene mutations for human erythrocyte AMP deaminase deficiency.

Y. Yamada, H. Goto, N. Ogasawara, 1994, Advances in experimental medicine and biology.

Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase.

Y. Yamada, H. Goto, N. Ogasawara, 1992, Biochimica et biophysica acta.

Subunit structures of AMP deaminase isozymes in rat.

Y. Yamada, M. Yoshino, H. Goto, 1977, Biochemical and biophysical research communications.

Deficiency of AMP deaminase in erythrocytes

K. S. Park, Y. Yamada, H. Goto, 1987, Human Genetics.

Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.

Y. Yamada, H. Goto, N. Ogasawara, 2000, Advances in experimental medicine and biology.

Complete deficiency of AMP deaminase in human erythrocytes.

Y. Yamada, H. Goto, N. Ogasawara, 1984, Biochemical and biophysical research communications.

Interaction of AMP deaminase with RNA.

Y. Yamada, H. Goto, N. Ogasawara, 1981, Biochimica et biophysica acta.

Mutations in the Hypoxanthine Guanine Phosphoribosyltransferase Gene (HPRT1) in Asian HPRT Deficient Families

N. Wakamatsu, Y. Yamada, K. Yamada, 2004, Nucleosides, nucleotides & nucleic acids.

AMP deaminase isozymes in human blood cells.

Y. Yamada, H. Goto, N. Ogasawara, 1984, Advances in experimental medicine and biology.

Deficiency of erythrocyte type isozyme of AMP deaminase in human.

Y. Yamada, H. Goto, N. Ogasawara, 1986 .

A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3

N. Wakamatsu, Y. Yamada, H. Goto, 2001, Human mutation.

Molecular Analysis of Two Enzyme Genes, HPRT1 and PRPS1, Causing X-Linked Inborn Errors of Purine Metabolism

N. Nomura, A. Yamano, N. Wakamatsu, 2010, Nucleosides, nucleotides & nucleic acids.

Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations.

Y. Yamada, H. Goto, N. Ogasawara, 1994, Human Molecular Genetics.

A point mutation responsible for human erythrocyte AMP deaminase deficiency.

Y. Yamada, H. Goto, N. Ogasawara, 1994, Human Molecular Genetics.