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1.
First Report of Filipino ß0-Thalassemia/ß-Thalassemia in a Chinese Family.
Hemoglobin
; 48(1): 34-38, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38192212
2.
A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.
Clin Genet
; 103(4): 413-423, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36537221
3.
Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism.
Mol Genet Genomics
; 297(5): 1423-1438, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35902388
4.
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
J Hum Genet
; 67(11): 629-638, 2022 Nov.
Article
in English
| MEDLINE | ID: mdl-35896820
5.
Genetic research and clinical analysis of ß-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.
J Clin Lab Anal
; 36(2): e24181, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34951062
6.
Analysis of genotype-phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China.
J Clin Lab Anal
; 36(10): e24696, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36099017
7.
Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.
J Clin Lab Anal
; 35(10): e23982, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34480509
8.
[Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1064-1067, 2021 Nov 10.
Article
in Zh
| MEDLINE | ID: mdl-34729744
9.
[Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 735-739, 2021 Aug 10.
Article
in Zh
| MEDLINE | ID: mdl-34365613
10.
First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia.
J Clin Lab Anal
; 34(11): e23479, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32901995
11.
X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
J Clin Lab Anal
; 34(5): e23201, 2020 May.
Article
in English
| MEDLINE | ID: mdl-31944387
12.
[Analysis of hematological phenotype and genotype of Hb Q-Thailand in Fujian area].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 761-764, 2019 Aug 10.
Article
in Zh
| MEDLINE | ID: mdl-31400122
13.
[Variant analysis for patients from Fujian area with Hong Kong αα type thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 297-300, 2019 Apr 10.
Article
in Zh
| MEDLINE | ID: mdl-30950011
14.
Application of the BACs-on-Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions.
Mol Reprod Dev
; 85(2): 146-154, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29247566
15.
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Int J Pediatr Otorhinolaryngol
; 176: 111777, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38029595
16.
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.
Sci Rep
; 14(1): 2190, 2024 01 25.
Article
in English
| MEDLINE | ID: mdl-38273042
17.
Identification of a novel 91.5 kb-deletion (αα)FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing.
J Matern Fetal Neonatal Med
; 36(2): 2254890, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37673790
18.
Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.
Lab Med
; 54(1): 65-71, 2023 Jan 05.
Article
in English
| MEDLINE | ID: mdl-36053226
19.
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.
Front Neurosci
; 17: 1165601, 2023.
Article
in English
| MEDLINE | ID: mdl-37250406
20.
The clinical value of hsa-miR-190b-5p in peripheral blood of pediatric ß-thalassemia and its regulation on BCL11A expression.
PLoS One
; 18(10): e0292031, 2023.
Article
in English
| MEDLINE | ID: mdl-37796993