Detalhe da pesquisa
1.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Am J Med Genet A
; 185(10): 3057-3061, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043868
2.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
3.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292136
4.
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
5.
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Nat Genet
; 38(1): 24-6, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16369530
6.
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.
Neurol Genet
; 7(5): e609, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532568
7.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Eur J Hum Genet
; 29(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32591635
8.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Transl Psychiatry
; 10(1): 77, 2020 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094338
9.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet
; 28(6): 770-782, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32005960
10.
First clinical description of a pedigree with complete NAF1 deletion.
Leuk Lymphoma
; 64(2): 487-490, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416722
11.
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Eur J Hum Genet
; 14(9): 1009-17, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16773131
12.
[A, not so robertsonian, translocation!] / Une translocation pas si robertsonienne !
Ann Biol Clin (Paris)
; 79(3): 261-264, 2021 06 01.
Artigo
em Francês
| MEDLINE | ID: mdl-34159905
13.
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
14.
Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability.
Oncogene
; 23(53): 8597-602, 2004 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-15467761
15.
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
Eur J Hum Genet
; 12(5): 415-8, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-14970844
16.
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Eur J Med Genet
; 57(5): 200-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462886
17.
Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization.
Genet Test Mol Biomarkers
; 15(7-8): 469-74, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21413874
18.
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