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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32592472
2.
Anterograde Viral Tracer Herpes Simplex Virus 1 Strain H129 Transports Primarily as Capsids in Cortical Neuron Axons.
J Virol;
94(8)2020 03 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-31969440
3.
A Novel Hemoglobin Variant Hb Liaobu [α107(G14)ValâLeu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.
Hemoglobin;
45(5): 341-344, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35322741
4.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain;
142(8): 2215-2229, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31199454
5.
[Effect of genetic modifiers on the clinical severity of ß-thalassemia].
Yi Chuan;
41(8): 669-676, 2019 Aug 20.
Artículo
en Zh
| MEDLINE | ID: mdl-31447418
6.
[A comprehensive repository of mutation data and a clinical assistant decision system for hemoglobinopathy in the Chinese population].
Yi Chuan;
41(8): 746-753, 2019 Aug 20.
Artículo
en Zh
| MEDLINE | ID: mdl-31447425
7.
[Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis].
Yi Chuan;
41(8): 716-724, 2019 Aug 20.
Artículo
en Zh
| MEDLINE | ID: mdl-31447422
8.
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.
Clin Chem Lab Med;
55(3): 358-367, 2017 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27754957
9.
Analysis of variants in upstream open reading frames of human globin-related genes.
Yi Chuan;
39(3): 232-240, 2017 03 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-28420619
10.
Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and ß-thalassemia subjects.
Blood Cells Mol Dis;
55(1): 62-7, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25976469
11.
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
BMC Musculoskelet Disord;
16: 11, 2015 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25888055
12.
DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.
Blood Cells Mol Dis;
53(4): 241-5, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24958328
13.
Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.
BMC Evol Biol;
13: 63, 2013 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23497175
14.
A novel fusion gene and a common α(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family.
Blood Cells Mol Dis;
51(1): 31-4, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23481460
15.
[Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and ß-thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
30(2): 148-51, 2013 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-23568723
16.
A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction.
Anal Biochem;
427(2): 144-50, 2012 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22617799
17.
[Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].
Zhonghua Fu Chan Ke Za Zhi;
47(2): 90-5, 2012 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-22455738
18.
Homogeneous label-free genotyping of single nucleotide polymorphism using ligation-mediated strand displacement amplification with DNAzyme-based chemiluminescence detection.
Anal Chem;
83(6): 1883-9, 2011 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21348511
19.
Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay.
Blood Cells Mol Dis;
47(3): 198-204, 2011 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21783390
20.
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
J Hum Genet;
56(9): 660-5, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21796144