Detalhe da pesquisa
1.
Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1.
Hum Genomics
; 16(1): 29, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906672
2.
C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
Hum Mol Genet
; 29(15): 2471-2480, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592472
3.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain
; 142(8): 2215-2229, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199454
4.
[Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(4): 425-8, 2013 Aug.
Artigo
em Chinês
| MEDLINE | ID: mdl-23926009
5.
[Analysis of GJB2 gene coding sequence in patients with nonsyndromic hearing loss].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(4): 409-13, 2011 Aug.
Artigo
em Chinês
| MEDLINE | ID: mdl-21811981
6.
[Different splice of the calpain 3 gene in human skeletal muscle tissue and white blood cells].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 27(3): 272-5, 2010 Jun.
Artigo
em Chinês
| MEDLINE | ID: mdl-20533264
7.
[Changes of serum creatine kinase levels in children with Duchenne muscular dystrophy].
Zhongguo Dang Dai Er Ke Za Zhi
; 10(1): 35-7, 2008 Feb.
Artigo
em Chinês
| MEDLINE | ID: mdl-18289468
8.
Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(4): 380-2, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16086272
9.
[Sequence Analysis of the UGT1A1 Gene Untranslated Region in Chinese Han Population].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 23(2): 522-5, 2015 Apr.
Artigo
em Chinês
| MEDLINE | ID: mdl-25948217
10.
[Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 23(4): 1161-4, 2015 Aug.
Artigo
em Chinês
| MEDLINE | ID: mdl-26314465
11.
[Effect of BCL11A gene on transcription of γ-globin gene].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 21(3): 628-32, 2013 Jun.
Artigo
em Chinês
| MEDLINE | ID: mdl-23815911
12.
[Correlation between hemoglobin F levels and single nucleotide polymorphism at BCL11A gene rs11886868 locus in ß-thalassemia patients].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 20(3): 650-3, 2012 Jun.
Artigo
em Chinês
| MEDLINE | ID: mdl-22739175
13.
[A novel mutation in ß-globin gene of a patient with ß-thalassemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 20(2): 398-400, 2012 Apr.
Artigo
em Chinês
| MEDLINE | ID: mdl-22541107
14.
[Polymorphism in BP1 binding site upstream of ß-globin gene in Chinese Han population].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 19(5): 1246-9, 2011 Oct.
Artigo
em Chinês
| MEDLINE | ID: mdl-22040981
15.
[Single nucleotide polymorphisms of ß-globin gene in ß-thalassaemia patients].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 18(5): 1220-3, 2010 Oct.
Artigo
em Chinês
| MEDLINE | ID: mdl-21129264