Detalhe da pesquisa
1.
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
Ann Hematol
; 103(5): 1765-1774, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509388
2.
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Dig Dis Sci
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564148
3.
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(12): 1210-1214, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468236
4.
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Neurol Sci
; 44(6): 2003-2015, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36689009
5.
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
J Gene Med
; 24(2): e3398, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786791
6.
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Neurol Sci
; 43(4): 2555-2563, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34783933
7.
A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1.
Thromb J
; 19(1): 64, 2021 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34496879
8.
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Sci Rep
; 14(1): 7638, 2024 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561452
9.
Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis.
Pediatr Rheumatol Online J
; 21(1): 130, 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872565
10.
Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant.
Front Pediatr
; 10: 878172, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35601416
11.
Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A.
Cardiol Res Pract
; 2022: 9716045, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35529058
12.
Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation.
Front Cardiovasc Med
; 9: 887618, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35557526
13.
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Cell Death Dis
; 13(6): 518, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654784
14.
Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.
Biomed Res Int
; 2021: 9973161, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046503
15.
Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.
Cell Death Dis
; 11(3): 159, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123165
16.
Genetic mutation of familial dilated cardiomyopathy based on nextgeneration semiconductor sequencing.
Mol Med Rep
; 18(5): 4271-4280, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30221713