Detalhe da pesquisa
1.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
2.
Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Prenat Diagn
; 44(5): 555-561, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448008
3.
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
Am J Obstet Gynecol
; 225(6): 676.e1-676.e15, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34058167
4.
Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach.
Fetal Diagn Ther
; 45(5): 302-311, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29898450
5.
Autoimmune disorders but not heparin are associated with cell-free fetal DNA test failure.
J Transl Med
; 16(1): 335, 2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30509296
6.
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study.
Genet Med
; 20(11): 1346-1353, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493578
7.
Impact of a shift in nuchal translucency measurements on the detection rate of first-trimester Down syndrome screening: A population-based study.
Prenat Diagn
; 38(2): 106-109, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29231978
8.
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.
Hum Mutat
; 37(7): 661-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936114
9.
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Am J Med Genet A
; 167(6): 1275-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900228
10.
C5orf42 is the major gene responsible for OFD syndrome type VI.
Hum Genet
; 133(3): 367-77, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178751
11.
First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.
Taiwan J Obstet Gynecol
; 61(2): 382-384, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361407
12.
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Front Genet
; 13: 926290, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226188
13.
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.
Front Genet
; 13: 975987, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36105088
14.
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Genes (Basel)
; 13(11)2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360264
15.
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
J Clin Med
; 9(8)2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32752152
16.
New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation.
Am J Med Genet A
; 146A(1): 93-6, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18076123
17.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Eur J Hum Genet
; 24(6): 844-51, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26508576
18.
Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination.
Obstet Gynecol
; 125(6): 1330-1337, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26000504
19.
Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.
Eur J Med Genet
; 57(10): 567-70, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25128687
20.
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Am J Med Genet A
; 134(4): 439-42, 2005 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15810003