Detalhe da pesquisa
1.
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence.
Hum Mol Genet
; 31(22): 3846-3854, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717577
2.
The CXCL10-CXCR3 axis plays an important role in Kawasaki disease.
Clin Exp Immunol
; 216(1): 104-111, 2024 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37952216
3.
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
Am J Med Genet A
; 194(7): e63575, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38407561
4.
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
Pediatr Transplant
; 28(1): e14659, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012111
5.
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan.
J Clin Immunol
; 43(4): 747-755, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36662456
6.
Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
Mol Genet Metab
; 140(1-2): 107703, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802748
7.
Time course of peripheral immunophenotypes of multisystem inflammatory syndrome in children.
Clin Immunol
; 236: 108955, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150919
8.
Immunological characteristics of severe acute hepatitis of unknown origin in a child post SARS-CoV-2 infection.
Clin Immunol
; 245: 109138, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36184055
9.
Vaccination for Patients with Inborn Errors of Immunity: a Nationwide Survey in Japan.
J Clin Immunol
; 42(1): 183-194, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704141
10.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131284
11.
A novel BMPR1A mutation affects mRNA splicing in juvenile polyposis syndrome.
Pediatr Int
; 64(1): e15041, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34699658
12.
Pediatric cardiac tamponade caused by metallic wire penetration into the heart: A case report and literature review.
J Card Surg
; 37(4): 1069-1071, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066940
13.
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Am J Med Genet A
; 185(4): 1113-1119, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506645
14.
Endoscopic retrograde cholangiopancreatography and endoscopic ultrasound in children.
Dig Endosc
; 33(7): 1045-1058, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33423305
15.
Proposal of a liver histology-based scoring system for bile salt export pump deficiency.
Hepatol Res
; 50(6): 754-762, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073700
16.
Schuurs-Hoeijmakers syndrome in two patients from Japan.
Am J Med Genet A
; 179(3): 341-343, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30588754
17.
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
J Hum Genet
; 63(5): 569-577, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29507376
18.
Transient myelodysplasia triggered by parvovirus B19 infection in a male with inborn error of bile acid metabolism.
Pediatr Blood Cancer
; : e30486, 2023 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277695
19.
Human ESC/iPSC-Derived Hepatocyte-like Cells Achieve Zone-Specific Hepatic Properties by Modulation of WNT Signaling.
Mol Ther
; 25(6): 1420-1433, 2017 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28462819
20.
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1.
Pediatr Int
; 65(1): e15559, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350556