永井敏郎 (Toshiro Nagai) - マイポータル - researchmap

基本情報

所属: 獨協医科大学越谷病院教授

学位: 博士(医学)

J-GLOBAL ID: 200901083853288226
researchmap会員ID: 1000228059

研究キーワード

4

研究分野

2

学歴

2

- 1974年

神戸大学, 医学部
- 1974年

神戸大学

委員歴

2

1991年

日本小児遺伝学会, 幹事
1991年

日本人類遺伝学会, 評議員

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 2004年7月
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 2004年7月
CATCH UP GROWTH AND RESTORE OF GROWTH HORMONE SECRETION IN PATIENT OF PREPUBERTAL PROLACTINOMA TREATED WITH BROMOCRIPTINE.

EUR J PEDIATR 163:472-472 2004年
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年
Identification of Col2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

J Med Genet 41:75-79 2004年
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年
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 2003年11月
Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome.

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

Dokkyo J Medical Science 30(1)9-11 2003年
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年
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 2002年4月
Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

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

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

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

J Clin Endocrinol Metab 87:3529-3533 2002年
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年
A case of chromosome 10 long-arm deletion associated with vesicoureteral reflux.

Dokkyo J Medical Science 29:145-148. 2002年
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 2001年6月
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 2001年4月
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

Am J Med Genet 104;225-231 2001年

もっとみる

書籍等出版物

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年

所属学協会

6

共同研究・競争的資金等の研究課題

6