Detalhe da pesquisa
1.
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
2.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Prenat Diagn
; 39(11): 1026-1034, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299102
3.
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.
BMC Health Serv Res
; 19(1): 994, 2019 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870363
4.
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
J Assist Reprod Genet
; 36(5): 973-978, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850901
5.
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Am J Med Genet A
; 173(8): 2081-2087, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28573701
6.
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
7.
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Prenat Diagn
; 35(1): 35-43, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118001
8.
Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells.
Stem Cell Res
; 76: 103350, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387169
9.
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Eur J Hum Genet
; 32(5): 545-549, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351293
10.
Contribution of amniocentesis in fetuses small for gestational age without other sonographic signs.
J Gynecol Obstet Hum Reprod
; 52(4): 102552, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796639
11.
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Birth Defects Res
; 115(5): 563-571, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538874
12.
Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: an array-CGH study.
Am J Med Genet A
; 155A(10): 2597-600, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910236
13.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Orphanet J Rare Dis
; 7: 18, 2012 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22452838