T. Matsumoto

发表

Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.

Y. Fukushima, N. Niikawa, S. Saitoh, 1994, American journal of medical genetics.

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

S. Tsuji, N. Wakamatsu, H. Kawai, 1999, Journal of neurology, neurosurgery, and psychiatry.

Neonatal onset of medium-chain Acyl-CoA dehydrogenase deficiency in two siblings

Y. Nobukuni, F. Endo, Y. Tsuji, 1988, Brain and Development.

Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.

K. Fujieda, T. Miike, I. Matsuda, 1988, American journal of medical genetics.

Calcaneal osteosarcoma associated with Werner syndrome. A case report with mutation analysis.

Y. Hirasawa, Y. Ishikawa, Y. Tsuji, 2000, The Journal of bone and joint surgery. American volume.

A Case of Severe Pituitary Dwarfism Associated with Prolactin and Thyroid Stimulating Hormone Deficiencies

I. Matsuda, E. Kinoshita, M. Yoshimoto, 1990, Acta paediatrica Scandinavica.

Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency

N. Niikawa, N. Iwatani, T. Kondoh, 1988, European Journal of Pediatrics.

Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia.

N. Niikawa, S. Fukuda, E. Kinoshita, 1994, American journal of medical genetics.

Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy.

T. Tsukahara, I. Nonaka, S. Ishiura, 1989, The New England journal of medicine.

Complete-type DiGeorge syndrome treated by bone marrow transplantation

T. Kondoh, T. Matsumoto, M. Nakayama, 1998, Bone Marrow Transplantation.

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

F. Endo, I. Matsuda, M. Yoshino, 1996, Journal of medical genetics.

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus.

N. Niikawa, M. Ishikawa, N. Harada, 1998, American journal of medical genetics.

Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: is the condition in the family autosomal recessive?

T. Morio, T. Kondoh, M. Yoshimoto, 1995, American journal of medical genetics.

Molecular-genetic study of Duchenne and Becker muscular dystrophies: deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese females.

N. Niikawa, M. Wapenaar, T. Miike, 1989, American journal of medical genetics.

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

N. Niikawa, K. Yoshiura, N. Matsumoto, 2008, Journal of Medical Genetics.

Chromosomal localisation of a pseudoautosomal growth gene(s).

P. Goodfellow, P. Goodfellow, C. Petit, 1992, Journal of medical genetics.

Wiskott-Aldrich syndrome in two sisters.

T. Kondoh, T. Matsumoto, Y. Tsuji, 1997, American journal of medical genetics.

Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis.

N. Niikawa, H. Moriuchi, E. Kinoshita, 2000, American journal of medical genetics.

Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ).

Y. Oiso, Y. Murata, E. Kinoshita, 1993, Endocrine journal.

Deletion Pattern in the 21‐Hydroxylase Gene Detected by Polymerase Chain Reaction

N. Niikawa, Y. Tsuji, E. Kinoshita, 1991, Acta paediatrica Japonica : Overseas edition.

RFLPs of 21-hydroxylase and C4 genes: application to pedigree analysis on 21-hydroxylase deficiency.

N. Niikawa, T. Kondoh, M. Yoshimoto, 1988, Acta paediatrica Japonica : Overseas edition.

Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies.

N. Niikawa, H. Tonoki, K. Narahara, 1991, Cytogenetics and cell genetics.

[Nevo syndrome].

T. Kondoh, T. Matsumoto, 2001, Ryoikibetsu shokogun shirizu.