Detalhe da pesquisa
1.
A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A.
Hum Mol Genet
; 32(8): 1348-1360, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36519758
2.
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Hum Mol Genet
; 32(14): 2326-2334, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133443
3.
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.
Hum Genet
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38252283
4.
Live Birth with or without Preimplantation Genetic Testing for Aneuploidy.
N Engl J Med
; 385(22): 2047-2058, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818479
5.
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping.
J Med Genet
; 60(3): 274-284, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710108
6.
A prospective study to evaluate whether serum kisspeptin is a marker predictive of the first-trimester miscarriage of women who conceive in IVF.
J Assist Reprod Genet
; 41(1): 79-85, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935913
7.
ADGB variants cause asthenozoospermia and male infertility.
Hum Genet
; 142(6): 735-748, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995441
8.
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
Am J Hum Genet
; 107(1): 24-33, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32502391
9.
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
Am J Hum Genet
; 107(1): 15-23, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32473092
10.
Loss of ACTL7A causes small head sperm by defective acrosome-acroplaxome-manchette complex.
Reprod Biol Endocrinol
; 21(1): 82, 2023 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667331
11.
Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest.
Genet Med
; 24(11): 2274-2284, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029299
12.
Gankyrin has a potential role in embryo implantation via activation of STAT3.
Reproduction
; 163(3): 157-165, 2022 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038312
13.
Can the combination of time-lapse parameters and clinical features predict embryonic ploidy status or implantation?
Reprod Biomed Online
; 45(4): 643-651, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918244
14.
Analysis of the risk of complications during pregnancy in pregnant women with assisted reproductive technology: a retrospective study using registry linkage from 2013 to 2018 in Shanghai, China.
BMC Pregnancy Childbirth
; 22(1): 526, 2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764962
15.
The use of frozen embryos and frozen sperm have complementary IVF outcomes: a retrospective analysis in couples experiencing IVF/Donor and IVF/Husband.
BMC Pregnancy Childbirth
; 22(1): 776, 2022 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36258180
16.
Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study.
BMC Pregnancy Childbirth
; 22(1): 805, 2022 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36324098
17.
Re-denudation of residual cumulus cells on day 3 increases the accuracy of cell-free DNA detection in spent embryo culture medium.
J Assist Reprod Genet
; 39(7): 1653-1660, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35672538
18.
Transfer of Fresh versus Frozen Embryos in Ovulatory Women.
N Engl J Med
; 378(2): 126-136, 2018 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29320646
19.
Immediate versus delayed frozen embryo transfer in patients following a stimulated IVF cycle: a randomised controlled trial.
Hum Reprod
; 36(7): 1832-1840, 2021 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33885131
20.
Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.
Hum Reprod
; 36(8): 2371-2381, 2021 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037756