Detalhe da pesquisa
1.
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility.
J Hum Genet
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769386
2.
Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.
Clin Genet
; 105(5): 549-554, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225536
3.
Risk of mother-to-child transmission after amniocentesis in pregnant women with hepatitis B virus: a retrospective cohort study.
Am J Obstet Gynecol
; 230(2): 249.e1-249.e8, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37499992
4.
Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.
Prenat Diagn
; 44(5): 580-585, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38204192
5.
Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study.
BMC Pregnancy Childbirth
; 24(1): 86, 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280990
6.
[Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(6): 661-668, 2024 Jun 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38818549
7.
A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation.
BMC Genomics
; 24(1): 521, 2023 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667185
8.
The risk factors of procedure-related complications after amniocentesis in twin pregnancies: a retrospective analysis.
BMC Pregnancy Childbirth
; 23(1): 587, 2023 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582700
9.
A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.
BMC Pregnancy Childbirth
; 23(1): 791, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964244
10.
HIV-1-related factors interact with p53 to influence cellular processes.
AIDS Res Ther
; 20(1): 66, 2023 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691100
11.
[Discussion on the status quo and solutions to the prevention and control of birth defects among primary obstetricians and gynecologists in the era of molecular genetic testing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1447-1450, 2023 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37994121
12.
[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(7): 781-786, 2023 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37368377
13.
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
BMC Genomics
; 23(1): 332, 2022 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488210
14.
P62/SQSTM1 mediates the autophagy-lysosome degradation of CDK2 protein undergoing PI3Kα/AKT T308 inhibition.
Biochem Biophys Res Commun
; 627: 5-11, 2022 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007335
15.
Pregnancy outcomes of fetuses with congenital heart disease after a prenatal diagnosis with chromosome microarray.
Prenat Diagn
; 42(1): 79-86, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918366
16.
Prenatal diagnosis with chromosome microarray and pregnancy outcomes of fetuses with biliary tract system abnormalities.
Prenat Diagn
; 42(11): 1390-1397, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068921
17.
A Clinicopathologic Analysis of Decidual Polyps: A Potentially Problematic Diagnosis.
Int J Clin Pract
; 2022: 2200790, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35685565
18.
A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.
BMC Pediatr
; 22(1): 82, 2022 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130870
19.
Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.
BMC Pediatr
; 22(1): 329, 2022 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668413
20.
[Discussion on the difficulties and solutions to the standardized residency training at the Department of Medical Genetics].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1309-1312, 2022 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36453949