Detalles de la búsqueda
1.
Two novel deletion mutations in ß-globin gene cause ß-thalassemia trait in two Chinese families.
Hum Genomics
; 17(1): 111, 2023 Dec 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38062488
2.
Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21.
J Assist Reprod Genet
; 40(4): 803-810, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36763299
3.
Epigenetic phenotype of plasma cell-free DNA in the prediction of early-onset preeclampsia.
J Obstet Gynaecol
; 43(2): 2282100, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-38038254
4.
Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform.
Hum Genomics
; 15(1): 41, 2021 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34215332
5.
A new biomarker for the early diagnosis of gastric cancer: gastric juice- and serum-derived SNCG.
Future Oncol
; 18(28): 3179-3190, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35947016
6.
Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities.
Prenat Diagn
; 42(1): 136-140, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34816459
7.
[A consensus on prenatal diagnosis and genetic counseling for chromosomal mosaicism].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 797-802, 2022 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35929925
8.
Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China.
J Assist Reprod Genet
; 38(3): 727-734, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33564935
9.
[Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(7): 613-619, 2021 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34247362
10.
The significance of trisomy 7 mosaicism in noninvasive prenatal screening.
Hum Genomics
; 13(1): 18, 2019 04 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30971315
11.
Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening.
Hum Genomics
; 13(1): 62, 2019 12 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31801621
12.
Noninvasive prenatal detection of hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the semiconductor sequencing platform.
Am J Obstet Gynecol
; 222(2): 185.e1-185.e17, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31394068
13.
Co-circulation of coxsackieviruses A-6, A-10, and A-16 causes hand, foot, and mouth disease in Guangzhou city, China.
BMC Infect Dis
; 20(1): 271, 2020 Apr 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32264839
14.
[A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 701-708, 2020 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32619246
15.
[The value of noninvasive prenatal screening for the detection of fetal chromosome 16 aneuploidy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(2): 135-138, 2020 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32034738
16.
[A consensus recommendation for the interpretation and reporting of exome sequencing in prenatal genetic diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1205-1212, 2020 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33179222
17.
Association between fetal fraction at the second trimester and subsequent spontaneous preterm birth.
Prenat Diagn
; 39(13): 1191-1197, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600413
18.
Development of a community-based hearing loss prevention and control service model in Guangdong, China.
BMC Public Health
; 19(1): 1601, 2019 Nov 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-31783833
19.
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.
BMC Pediatr
; 19(1): 364, 2019 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31638924
20.
Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA.
Proc Natl Acad Sci U S A
; 112(47): 14670-5, 2015 Nov 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-26554006