Detalhe da pesquisa
1.
Cost-effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model-based analysis.
Ultrasound Obstet Gynecol
; 54(5): 596-603, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006923
2.
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
Ultrasound Obstet Gynecol
; 52(6): 715-721, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29027723
3.
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
Clin Genet
; 89(1): 68-73, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677961
4.
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Clin Genet
; 89(5): 630-5, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582393
5.
Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma.
Prenat Diagn
; 35(5): 471-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25643828
6.
Reply.
Ultrasound Obstet Gynecol
; 53(4): 555, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30938480
7.
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
Clin Genet
; 84(1): 31-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23061379
8.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
J Med Genet
; 49(2): 104-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180640
9.
Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results.
AJNR Am J Neuroradiol
; 43(1): 132-138, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949593
10.
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
J Med Genet
; 47(6): 377-84, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522426
11.
Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
Clin Neurophysiol
; 132(5): 1126-1137, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33773177
12.
19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
J Med Genet
; 46(9): 635-40, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19126570
13.
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.
Clin Genet
; 80(2): 199-201, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21749366
14.
Fetal growth restriction and intra-uterine growth restriction: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians.
Eur J Obstet Gynecol Reprod Biol
; 193: 10-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26207980
15.
A new case of a severe clinical phenotype of the cat-eye syndrome.
Genet Couns
; 15(4): 443-8, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15658620
16.
Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.
Clin Genet
; 73(1): 89-91, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18042263
17.
[Managing and identifying the causes of IUGR]. / Bilan étiologique du retard de croissance intra-utérin (RCIU).
J Gynecol Obstet Biol Reprod (Paris)
; 42(8): 929-40, 2013 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-24210716
18.
Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.
Eur J Med Genet
; 56(9): 502-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23832107
19.
[Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype]. / Diagnostic des anomalies chromosomiques par CGH array en pathologie constitutionnelle : la fin du caryotype en première intention.
Arch Pediatr
; 19(4): 437-42, 2012 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-22342099
20.
[Cell-free fetal DNA screening tests for trisomy 21]. / Les tests d'ADN libre circulant pour le dépistage de la trisomie 21 fÅtale.
Gynecol Obstet Fertil
; 44(12): 675-678, 2016 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-27839716