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1.
The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells.
Int Immunol
; 26(6): 341-52, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24402308
2.
A case of infant botulism infection due to consumption of untreated well-water.
J Pediatr
; 164(4): 931-3, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24461790
3.
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome.
Pediatr Transplant
; 18(1): E25-30, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24224516
4.
T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation.
J Allergy Clin Immunol
; 132(3): 648-655.e1, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23684068
5.
A case series of CAEBV of children and young adults treated with reduced-intensity conditioning and allogeneic bone marrow transplantation: a single-center study.
Eur J Haematol
; 91(3): 242-248, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23734904
6.
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
Nature
; 448(7157): 1058-62, 2007 Aug 30.
Article
in English
| MEDLINE | ID: mdl-17676033
7.
Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome.
Tohoku J Exp Med
; 229(1): 83-6, 2013 01.
Article
in English
| MEDLINE | ID: mdl-23291611
8.
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.
Am J Med Genet A
; 158A(3): 674-7, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22315185
9.
A homozygous mutation of voltage-gated sodium channel ß(I) gene SCN1B in a patient with Dravet syndrome.
Epilepsia
; 53(12): e200-3, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23148524
10.
Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4- methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease.
Pediatr Res
; 72(3): 270-6, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22728746
11.
Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages.
Pediatr Transplant
; 16(2): E63-70, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-21834803
12.
Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.
Tohoku J Exp Med
; 227(1): 69-72, 2012 05.
Article
in English
| MEDLINE | ID: mdl-22688420
13.
Post-transplantation lymphoproliferative disorder in living-donor liver transplantation: a single-center experience.
Surg Today
; 42(8): 741-51, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22278621
14.
Prospective study of a therapeutic regimen with all-trans retinoic acid and anthracyclines in combination of cytarabine in children with acute promyelocytic leukaemia: the Japanese childhood acute myeloid leukaemia cooperative study.
Br J Haematol
; 152(1): 89-98, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-20735397
15.
Nationwide survey of patients with primary immunodeficiency diseases in Japan.
J Clin Immunol
; 31(6): 968-76, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21956496
16.
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
J Hum Genet
; 56(1): 34-40, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21048783
17.
[Clinical features of Japanese pediatric patients with anti-aquaporin 4 antibody].
No To Hattatsu
; 43(5): 359-65, 2011 Sep.
Article
in Japanese
| MEDLINE | ID: mdl-21941842
18.
[Case of a pharyngeal-cervical-brachial variant of Guillain-Barré syndrome without pharyngeal palsy].
No To Hattatsu
; 43(6): 482-5, 2011 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-22180965
19.
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.
Hum Mutat
; 31(7): 820-9, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20506560
20.
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Hum Mutat
; 31(3): 284-94, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20052757