K. 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.

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region

E. Engle, M. Uchino, E. Uyama, 2003, Neuromuscular Disorders.

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.

NUCLEOSIDES, NUCLEOTIDES & NUCLEIC ACIDS

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

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.

Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease.

N. Niikawa, A. Kuwano, K. Yamada, 1998, American journal of medical genetics.

Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

N. Niikawa, T. Amemiya, K. Yamada, 2000, American journal of ophthalmology.

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.

N. Niikawa, Y. Makita, K. Yamada, 1999, American journal of medical genetics.

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

Y. Fukushima, N. Niikawa, Y. Makita, 2000, American journal of human genetics.

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

Y. Fukushima, N. Niikawa, Y. Nakamura, 1999, American journal of human genetics.

Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber’s hereditary optic neuropathy: comparison with American and British counterparts

Makoto Nakamura, Y. Isashiki, Y. Hotta, 1999 .

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.

K. Fujiki, A. Kanai, M. Hayakawa, 1995, Japanese journal of ophthalmology.

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

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

Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations

N. Nomura, N. Wakamatsu, S. Fujimori, 2008, Nucleosides, nucleotides & nucleic acids.

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy.

N. Shimizu, J. Kudoh, M. Wakakura, 1998, Current eye research.

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.

N. Niikawa, K. Yoshiura, G. Nishimura, 2001, American journal of medical genetics.

Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

N. Niikawa, P. Limprasert, T. Kishino, 2001, American journal of medical genetics.

[Bardet-Biedl syndrome(BBS)].

N. Niikawa, K. Yamada, 2000, Ryoikibetsu shokogun shirizu.

Identification, characterization and mapping of the human ZIS (zinc-finger, splicing) gene.

N. Niikawa, E. Soeda, K. Yoshiura, 1998, Gene.

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

N. Niikawa, A. Wright, R. Vervoort, 2001, American journal of medical genetics.

Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

N. Niikawa, M. Najafi, K. Majidzadeh-A, 2000, American journal of medical genetics.

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.

Two Nonsense Mutations of PAX6 in Two Japanese Aniridia Families: Case Report and Review of the Literature

N. Niikawa, T. Sasaki, N. Matsumoto, 2000, European journal of ophthalmology.