Detalhe da pesquisa
1.
Clinical utility of 67 Gallium-SPECT/CT for determining osteotomy indication in patients with lower-limb osteomyelitis.
Wound Repair Regen
; 31(3): 384-392, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866489
2.
Localization of Late Gadolinium Enhancement and Its Association with Ventricular Tachycardia in Patients with Cardiac Sarcoidosis.
Int Heart J
; 63(2): 235-240, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35354745
3.
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Am J Med Genet A
; 185(7): 2175-2179, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884742
4.
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Am J Med Genet A
; 179(6): 948-957, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941898
5.
[Genetic Counseling of HBOC and Japanese Organization of HBOC].
Gan To Kagaku Ryoho
; 44(2): 107-110, 2017 Feb.
Artigo
em Japonês
| MEDLINE | ID: mdl-28223668
6.
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A
; 170A(2): 322-328, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481852
7.
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
Am J Med Genet A
; 167A(2): 407-11, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25423878
8.
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Am J Med Genet A
; 167A(3): 592-601, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691411
9.
Surgical intervention for esophageal atresia in patients with trisomy 18.
Am J Med Genet A
; 164A(2): 324-30, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311518
10.
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Am J Med Genet A
; 164A(5): 1272-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664492
11.
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(3): 597-609, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357569
12.
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
J Hum Genet
; 58(8): 560-3, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23635952
13.
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Am J Med Genet A
; 161A(3): 518-26, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401378
14.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet A
; 161A(6): 1221-37, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23637025
15.
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
Chromosome Res
; 20(6): 659-72, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22801776
16.
Haploinsufficiency of NSD1 causes Sotos syndrome.
Nat Genet
; 30(4): 365-6, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11896389
17.
Prognostic Implications of Sarcoidosis Granulomasã- Insights From the Multicenter Registry, the Japanese Cardiac Sarcoidosis Prognostic Study.
Circ Rep
; 5(6): 252-259, 2023 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37305793
18.
Common variants in CASP3 confer susceptibility to Kawasaki disease.
Hum Mol Genet
; 19(14): 2898-906, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20423928
19.
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Am J Med Genet A
; 158A(4): 861-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22407754
20.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Am J Med Genet A
; 158A(2): 412-6, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140075