Detalhe da pesquisa
1.
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(6): 685-695, 2024 Jun 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38818552
2.
[Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 140-144, 2024 Feb 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38311550
3.
The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.
Am J Obstet Gynecol
; 229(2): 170.e1-170.e8, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36716986
4.
[The value of combined CNV-Seq and chromosomal karyotyping for the detection of amniocytic mosaicisms and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 954-959, 2023 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37532494
5.
[Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 1028-1031, 2023 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37532506
6.
[Analysis of genome copy number variations in fetuses with isolated ventricular septal defect and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(3): 317-321, 2023 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36854407
7.
[Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 366-369, 2022 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35446967
8.
[Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 889-892, 2022 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35929943
9.
[Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1200-1204, 2022 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36317203
10.
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1228-1232, 2022 Nov 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36317208
11.
[Clinical and genetic analysis of a child with mosaic chromosome 8 trisomy syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1402-1405, 2022 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36453968
12.
[Analysis of chromosomal copy number variations among 163 fetuses with echogenic bowel by using CNV-seq technology].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 954-957, 2022 Sep 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36082564
13.
[CNV-seq analysis of copy number variations in 217 fetuses with nasal bone dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1076-1079, 2022 Oct 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36184086
14.
Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
Hum Mutat
; 42(8): 990-1004, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015165
15.
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.
Haemophilia
; 27(1): e88-e92, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245802
16.
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.
Prenat Diagn
; 41(10): 1332-1342, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34181751
17.
Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis.
J Obstet Gynaecol Res
; 47(3): 1002-1008, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33474820
18.
[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 727-730, 2021 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34365611
19.
[Prenatal diagnosis and family analysis of 22q11.2 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(7): 659-662, 2021 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34247372
20.
[Clinical phenotype and genetic analysis of MECP2 duplication syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(12): 1190-1193, 2021 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-34839504