Detalhe da pesquisa
1.
Regulation of N6 -methyladenosine modification in erythropoiesis and thalassemia.
Clin Genet
; 2024 Mar 15.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165465
3.
Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
BMC Pregnancy Childbirth
; 24(1): 23, 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38172840
4.
Transforming growth factor-induced gene TGFBI is correlated with the prognosis and immune infiltrations of breast cancer.
World J Surg Oncol
; 22(1): 22, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245723
5.
Genetic analysis, ultrasound phenotype, and pregnancy outcomes of fetuses with Xp22.33 or Yp11.32 microdeletions.
J Perinat Med
; 52(1): 96-101, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37846158
6.
First Report of Filipino ß0-Thalassemia/ß-Thalassemia in a Chinese Family.
Hemoglobin
; 48(1): 34-38, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192212
7.
[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.
Artigo
em Zh
| MEDLINE | ID: mdl-38565506
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37401003
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537221
10.
Activating transcription factor 4 in erythroid development and [Formula: see text]-thalassemia: a powerful regulator with therapeutic potential.
Ann Hematol
; 2023 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37906269
11.
Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result.
Mol Biol Rep
; 50(9): 7649-7657, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37535243
12.
Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience.
BMC Pregnancy Childbirth
; 23(1): 73, 2023 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36703098
13.
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.
J Perinat Med
; 51(7): 904-912, 2023 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138453
14.
Fetal mosaicism, should conventional karyotype always be performed?
J Obstet Gynaecol Res
; 49(12): 2836-2848, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37844871
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902388
16.
Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center.
J Transl Med
; 20(1): 168, 2022 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397568
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896820
18.
Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities.
Mol Biol Rep
; 49(10): 9251-9256, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960415
19.
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Mol Biol Rep
; 49(11): 10409-10419, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104584
20.
16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.
BMC Pregnancy Childbirth
; 22(1): 913, 2022 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36476185