Detalhe da pesquisa
1.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Am J Hum Genet
; 108(9): 1725-1734, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433009
2.
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Am J Med Genet A
; 194(3): e63457, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37881147
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
4.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet
; 60(6): 620-626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368868
5.
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
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
7.
Marine Collagen Hydrolysates Promote Collagen Synthesis, Viability and Proliferation While Downregulating the Synthesis of Pro-Catabolic Markers in Human Articular Chondrocytes.
Int J Mol Sci
; 22(7)2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916312
8.
Marine Collagen Hydrolysates Downregulate the Synthesis of Pro-Catabolic and Pro-Inflammatory Markers of Osteoarthritis and Favor Collagen Production and Metabolic Activity in Equine Articular Chondrocyte Organoids.
Int J Mol Sci
; 22(2)2021 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33430111
9.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058622
10.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292136
11.
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
12.
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
13.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenat Diagn
; 36(6): 523-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018091
14.
Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
J Clin Ultrasound
; 44(2): 100-5, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179848
15.
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Am J Med Genet A
; 161A(10): 2582-7, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929658
16.
MiR-4270 acts as a tumor suppressor by directly targeting Bcl-xL in human osteosarcoma cells.
Front Oncol
; 13: 1220459, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37719019
17.
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Res Sq
; 2023 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034680
18.
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Sci Rep
; 13(1): 12984, 2023 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563198
19.
Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.
Prenat Diagn
; 32(4): 383-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22025315
20.
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Andrology
; 10(8): 1625-1631, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36026611