Detalles de la búsqueda
1.
Regulation of N6 -methyladenosine modification in erythropoiesis and thalassemia.
Clin Genet;
2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38488342
2.
Peripheral blood circular RNA circ-0008102 may serve as a novel clinical biomarker in beta-thalassemia patients.
Eur J Pediatr;
183(3): 1367-1379, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38165465
3.
First Report of Filipino ß0-Thalassemia/ß-Thalassemia in a Chinese Family.
Hemoglobin;
48(1): 34-38, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38192212
4.
[Advance of research on the role of BCL11A in the occurrence and treatment of ß-Thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(4): 417-425, 2024 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38565506
5.
Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study.
J Cell Mol Med;
27(16): 2354-2361, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37401003
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36537221
7.
Activating transcription factor 4 in erythroid development and [Formula: see text]-thalassemia: a powerful regulator with therapeutic potential.
Ann Hematol;
2023 Oct 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-37906269
8.
Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result.
Mol Biol Rep;
50(9): 7649-7657, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37535243
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35902388
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35896820
11.
Analysis of genotype-phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China.
J Clin Lab Anal;
36(10): e24696, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36099017
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34951062
13.
Abnormal regulation of microRNAs and related genes in pediatric ß-thalassemia.
J Clin Lab Anal;
35(9): e23945, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34398996
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34480509
15.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-34365613
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32901995
17.
X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
J Clin Lab Anal;
34(5): e23201, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-31944387
18.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-31400122
19.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-30950011
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29247566