Detalhe da pesquisa
1.
Preterm birth affects both surfactant synthesis and lung liquid resorption actors in fetal sheep.
Dev Biol
; 506: 64-71, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38081502
2.
Prenatal treatment with preimplantation factor improves early postnatal neurogenesis and cognitive impairments in a mouse model of Down syndrome.
Cell Mol Life Sci
; 81(1): 215, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38739166
3.
Spermatogonial depletion and a spermatogenesis defect in the Dp(16)1Yey mouse model of Down syndrome.
Reproduction
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38063330
4.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
5.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
6.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
7.
Human Placental Adaptive Changes in Response to Maternal Obesity: Sex Specificities.
Int J Mol Sci
; 24(11)2023 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298720
8.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
9.
Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in RBMXL2: A case report.
Andrologia
; 54(11): e14595, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36102209
10.
Preimplantation factor modulates trophoblastic invasion throughout the decidualization of human endometrial stromal cells.
Reprod Biol Endocrinol
; 19(1): 96, 2021 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176510
11.
Pressurized intra-peritoneal aerosol chemotherapy (PIPAC): increased intraperitoneal pressure does not affect distribution patterns but leads to deeper penetration depth of doxorubicin in a sheep model.
BMC Cancer
; 21(1): 461, 2021 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33902518
12.
Utilization of in vitro maturation in cases with a FSH receptor mutation.
J Assist Reprod Genet
; 38(6): 1311-1321, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089127
13.
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Mol Hum Reprod
; 26(9): 665-677, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634216
14.
A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.
J Assist Reprod Genet
; 37(3): 573-577, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981038
15.
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Prenat Diagn
; 39(10): 871-882, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172545
16.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
17.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
18.
Down syndrome and infertility: what support should we provide?
J Assist Reprod Genet
; 36(6): 1063-1067, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073724
19.
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
J Obstet Gynaecol Res
; 44(3): 570-575, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29160022
20.
Are leptin and adiponectin involved in recurrent pregnancy loss?
J Obstet Gynaecol Res
; 44(6): 1015-1022, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29536593