Detalhe da pesquisa
1.
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
2.
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
3.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
J Med Genet
; 52(1): 61-70, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411445
4.
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.
J Hum Genet
; 60(5): 267-71, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716914
5.
TCF12 microdeletion in a 72-year-old woman with intellectual disability.
Am J Med Genet A
; 167A(8): 1897-901, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25871887
6.
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
Am J Med Genet A
; 164A(10): 2618-22, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24975717
7.
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.
Am J Med Genet A
; 161A(10): 2594-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918747
8.
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
9.
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
Am J Med Genet A
; 152A(8): 1933-41, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635369
10.
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
11.
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
Front Immunol
; 10: 1871, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474980
12.
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.
Eur J Med Genet
; 62(9): 103539, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240710
13.
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
Am J Med Genet A
; 161A(6): 1505-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613186
14.
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
15.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet
; 23(8): 1010-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351778
16.
[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. / Le syndrome 49, XXXXY : nouvelle description de ses répercussions clinicobiologiques chez un patient adulte.
Ann Biol Clin (Paris)
; 72(3): 371-7, 2014.
Artigo
em Francês
| MEDLINE | ID: mdl-24876149