Detalles de la búsqueda
1.
A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in ß-thalassemia.
Blood
; 137(12): 1652-1657, 2021 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33227819
2.
MALDI-TOF-MS for Rapid Screening and Typing of ß-Globin Variant and ß-Thalassemia through Direct Measurements of Intact Globin Chains.
Clin Chem
; 68(12): 1541-1551, 2022 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36226750
3.
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
J Hum Genet
; 67(4): 183-195, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34690349
4.
Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing.
Mol Genet Genomics
; 295(2): 505-514, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31897801
5.
Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy.
Cytogenet Genome Res
; 160(11-12): 634-642, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33756471
6.
Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene HBA2: c.1A>G Mutation.
Hemoglobin
; 44(1): 51-54, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31933393
7.
Pedigree Analysis of Nonhomologous Sequence Recombination of HBA1 and HBA2 Genes.
Hemoglobin
; 44(5): 329-333, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32811243
8.
[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 21-24, 2020 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31922589
9.
Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.
J Clin Lab Anal
; 33(2): e22660, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30221396
10.
[Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type â ].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(9): 882-885, 2019 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31515781
11.
[Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 805-808, 2019 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31400133
12.
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(11): 1067-1072, 2019 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31703127
13.
[SLC22A5 gene mutation analysis and prenatal diagnosis for a family with primary carnitine deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 690-693, 2019 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31302912
14.
[Clinical and genetic analysis of a child with Noonan syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(6): 588-591, 2019 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31055812
15.
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(12): 1163-1166, 2019 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31813138
16.
Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and ß-thalassemia genotyping.
J Hum Genet
; 63(4): 407-416, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29440707
17.
[Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(1): 52-55, 2018 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-29335083
18.
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
J Hum Genet
; 67(4): 239-243, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34815527
19.
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
20.
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(11): 1150-1154, 2017 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-29132460