Detalhe da pesquisa
1.
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
2.
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Brain
; 146(3): 858-864, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36417180
3.
Prenatal Diagnosis of Primrose Syndrome.
J Ultrasound Med
; 43(2): 411-414, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929614
4.
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
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.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
8.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
9.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Genet Med
; 22(11): 1887-1891, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565546
10.
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
11.
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dev Med Child Neurol
; 57(12): 1183-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26400718
12.
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Mol Genet Genomic Med
; 12(4): e2437, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588252
13.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
14.
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Eur J Hum Genet
; 31(8): 895-904, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188826
15.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035737
16.
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Pediatr Allergy Immunol
; 28(3): 298-303, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28039949
17.
Effects of the implementation of second-line prenatal cell-free DNA testing on termination of pregnancy in a French perinatal network.
Eur J Obstet Gynecol Reprod Biol
; 267: 36-41, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34689025
18.
Metabolic Diseases and Down Syndrome: How Are They Linked Together?
Biomedicines
; 9(2)2021 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33671490
19.
DYRK1A Overexpression in Mice Downregulates the Gonadotropic Axis and Disturbs Early Stages of Spermatogenesis.
Genes (Basel)
; 12(11)2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828406
20.
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations.
Eur J Med Genet
; 63(8): 103956, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439619