Detalhe da pesquisa
1.
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Clin Genet
; 106(1): 102-108, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558253
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Prenat Diagn
; 35(8): 801-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25962607
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Are de novo rea(21;21) chromosomes really de novo?
Clin Case Rep
; 3(10): 786-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26509006