Detalhe da pesquisa
1.
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
BMC Med Genet
; 18(1): 2, 2017 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28061824
2.
Progress in microsphere-based scaffolds in bone/cartilage tissue engineering.
Biomed Mater
; 18(6)2023 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751762
3.
[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
Zhonghua Yi Xue Za Zhi
; 92(21): 1463-7, 2012 Jun 05.
Artigo
em Zh
| MEDLINE | ID: mdl-22944031
4.
[The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 528-31, 2011 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-21983727
5.
[Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 496-500, 2011 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-21983720
6.
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Za Zhi
; 89(47): 3324-7, 2009 Dec 22.
Artigo
em Zh
| MEDLINE | ID: mdl-20193559
7.
[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(6): 601-4, 2006 Dec.
Artigo
em Zh
| MEDLINE | ID: mdl-17160934
8.
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(2): 189-91, 2006 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-16604494
9.
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Arch Neurol
; 62(8): 1201-7, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16087758
10.
[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(5): 510-3, 2005 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-16215937
11.
[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(5): 537-40, 2005 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-16215943
12.
[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Za Zhi
; 85(26): 1809-12, 2005 Jul 13.
Artigo
em Zh
| MEDLINE | ID: mdl-16253183
13.
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Gene
; 565(1): 150-4, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25839938
14.
Cloning of Human Myelin Protein Zero-like Genes by Bioinformatics Strategy.
Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai)
; 32(4): 364-368, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-12075424
15.
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 21(3): 207-10, 2004 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-15192818
16.
A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L.
Neural Regen Res
; 9(4): 413-9, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25206829
17.
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
Hum Genet
; 116(3): 222-4, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15565283
18.
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
Hum Genet
; 114(6): 527-33, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15021985