Toshiro Nagai - My portal - researchmap

Profile Information

Affiliation: Koshigaya Hospital, Dokkyo Medical University

Degree: (BLANK)

J-GLOBAL ID: 200901083853288226
researchmap Member ID: 1000228059

Research Interests

4

Research Areas

2

Education

2

- 1974

School of Medicine, Kobe University
- 1974

Faculty of Medicine, Kobe University

Committee Memberships

2

1991

幹事, 日本小児遺伝学会
1991

評議員, 日本人類遺伝学会

Misc.

84

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

N Miyake, N Harada, O Shimokawa, H Ohashi, K Kurosawa, T Matsumoto, Y Fukushima, T Nagai, Shotelersuk, V, K Yoshiura …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 128A(2) 170-172, Jul, 2004
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome

R Yoshida, T Hasegawa, Y Hasegawa, T Nagai, E Kinoshita, Y Tanaka, H Kanegane, K Ohyama, T Onishi, K Hanew …

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 89(7) 3359-3364, Jul, 2004
CATCH UP GROWTH AND RESTORE OF GROWTH HORMONE SECRETION IN PATIENT OF PREPUBERTAL PROLACTINOMA TREATED WITH BROMOCRIPTINE.

EUR J PEDIATR, 163:472-472, 2004
A 3 bp Deletion Mutation of PTPN11 in an Infant With Severe Noonan Syndrome Including Hydrops Fetalis and Juvenile Myelomonocytic Leukemia.

Am J Med Genet, 128A:63-66, 2004
Identification of Col2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

J Med Genet, 41:75-79, 2004
Subtelomere-specific Microarray-based Comparative Genomic Hybridization: A Rapid Detection System for Cryptic Rearrangements in Idiopathic Mental Retardation

J Med Genet, 41:130-136, 2004
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion

N Kurotaki, N Harada, O Shimokawa, N Miyake, H Kawame, K Uetake, Y Makita, T Kondoh, T Ogata, T Hasegawa …

HUMAN MUTATION, 22(5) 378-387, Nov, 2003
Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome.

Am J Hum Genet, 72;1331-1337, 2003
Influence of Acyclovir on Antibody Production against Chikenpox.

Dokkyo J Medical Science, 30(1)9-11, 2003
A Phenotype and Genotype Correlation in Sotos Syndrome: Comparison of Clinical Manifestations in Patients With Intragenic Mutations and Submicroscopic Deletions.

J Med Genet, 40;285-289, 2003
Haploinsufficiency of NSD1 causes Sotos syndrome

N Kurotaki, K Imaizumi, N Harada, M Masuno, T Kondoh, T Nagai, H Ohashi, K Naritomi, M Tsukahara, Y Makita …

NATURE GENETICS, 30(4) 365-366, Apr, 2002
Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

Pediatr Neurol, 27:397-400., 2002
A 4q21-q22 deletion in a girl with severe growth retardation

Clin Genet, 61:226-228., 2002
A 4-Mb critical region for intrauterine growth retardation at 15q26.

Clin Genet, 62:340-342., 2002
PTPN11(protein-tyrosine phosphatase, non-receptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

J Clin Endocrinol Metab, 87:3529-3533, 2002
Postnatal overgrowth by 15q-trisomy and IUGR by 15q-monosomy due to Familial Translocation t(13;15): Dosage Effect of IGF1R?.

Am J Med Genet, .113;173-177., 2002
A case of chromosome 10 long-arm deletion associated with vesicoureteral reflux.

Dokkyo J Medical Science, 29:145-148., 2002
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

K Muroya, T Hasegawa, Y Ito, T Nagai, H Isotani, Y Iwata, K Yamamoto, S Fujimoto, S Seishu, Y Fukushima …

JOURNAL OF MEDICAL GENETICS, 38(6) 374-380, Jun, 2001
Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population

N Narita, M Narita, S Takashima, M Nakayama, T Nagai, N Okado

PEDIATRICS, 107(4) 690-692, Apr, 2001
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

Am J Med Genet, 104;225-231, 2001

More

Books and Other Publications

1

Clinical and laboratory observations of 20 children with hypophosphatemic vitamine D resistant rickets. (共著)

Endocrine control of bone and calcium metabolism. Dv Cohn, JT Potts, T Fujita Edit. Elsevier Science Publishers BV., 1987

Professional Memberships

6

Research Projects

6