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1.
Assessment of patients' characteristics associated with the efficacy and safety of oral valganciclovir treatment for infants with symptomatic congenital cytomegalovirus disease.
J Infect Chemother
; 2024 Mar 13.
Article
in English
| MEDLINE | ID: mdl-38484931
2.
Correlation of cytomegalovirus viral load between whole blood and plasma of congenital cytomegalovirus infection under valganciclovir treatment.
BMC Infect Dis
; 23(1): 31, 2023 Jan 19.
Article
in English
| MEDLINE | ID: mdl-36658533
3.
A familial case of B-cell expansion with NF-κB and T-cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene.
Pediatr Blood Cancer
; 69(12): e29941, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36129242
4.
The clinical characteristics of pediatric coronavirus disease 2019 in 2020 in Japan.
Pediatr Int
; 64(1): e14912, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34233075
5.
Respiratory function declines in children with asthma associated with chemical species of fine particulate matter (PM2.5) in Nagasaki, Japan.
Environ Health
; 20(1): 110, 2021 10 21.
Article
in English
| MEDLINE | ID: mdl-34670555
6.
Issues of infant feeding for postnatal prevention of human T-cell leukemia/lymphoma virus type-1 mother-to-child transmission.
Pediatr Int
; 63(3): 284-289, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32574414
7.
Association between Asian dust exposure and respiratory function in children with bronchial asthma in Nagasaki Prefecture, Japan.
Environ Health Prev Med
; 25(1): 8, 2020 Mar 04.
Article
in English
| MEDLINE | ID: mdl-32131724
8.
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.
J Hum Genet
; 64(5): 467-471, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30796325
9.
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.
J Hum Genet
; 64(4): 341-346, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30692597
10.
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.
J Hum Genet
; 64(8): 789-794, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-31138847
11.
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.
J Hum Genet
; 63(3): 387-390, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29335451
12.
Congenital cytomegalovirus in Japan: More than 2 year follow up of infected newborns.
Pediatr Int
; 60(1): 57-62, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-29032597
13.
Large deletion in 6q containing the TNFAIP3 gene associated with autoimmune lymphoproliferative syndrome.
Clin Immunol
; 235: 108853, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34520861
14.
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.
J Hum Genet
; 62(10): 919-922, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28592837
15.
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
J Hum Genet
; 62(7): 717-721, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28331218
16.
Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.
Am J Med Genet A
; 173(1): 217-220, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27662520
17.
Low risk of treatment resistance in Down syndrome with Kawasaki disease.
Pediatr Int
; 59(12): 1236-1239, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28960680
18.
Siblings with congenital thrombotic thrombocytopenic purpura.
Rinsho Ketsueki
; 58(8): 933-937, 2017.
Article
in Japanese
| MEDLINE | ID: mdl-28883277
19.
Diagnostic value of single photon emission computed tomography (SPECT) for patients with non-herpetic acute limbic encephalitis.
No To Hattatsu
; 49(1): 46-50, 2017 Jan.
Article
in Japanese
| MEDLINE | ID: mdl-30011155
20.
[Ictal arterial spin labeling MRI findings in two cases of acute confusional migraine].
No To Hattatsu
; 49(2): 136-40, 2017 03.
Article
in Japanese
| MEDLINE | ID: mdl-30113155