Detalhe da pesquisa
1.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
2.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
3.
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.
Clin Chem
; 67(5): 736-741, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331864
4.
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
5.
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
J Med Genet
; 57(7): 487-499, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992580
6.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Mov Disord
; 35(8): 1336-1345, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506582
7.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
8.
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
9.
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Sci Rep
; 14(1): 5289, 2024 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438430
10.
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
Eur J Hum Genet
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433263
11.
Phenotype and imaging features associated with APP duplications.
Alzheimers Res Ther
; 15(1): 93, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170141
12.
Evolution of attractiveness of Medical Biology to medical students in 2022 / Attractivité du diplôme d'études supérieures de biologie médicale en 2022 chez les étudiants en médecine, quelle évolution ?
Ann Biol Clin (Paris)
; 80(6): 565-572, 2022 11 01.
Artigo
em Francês
| MEDLINE | ID: mdl-36696554
13.
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
Acta Neuropathol Commun
; 10(1): 20, 2022 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151370
14.
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
Mol Cytogenet
; 14(1): 23, 2021 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33952337
15.
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Acta Neuropathol Commun
; 9(1): 104, 2021 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092257
16.
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
17.
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
18.
Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.
Eur J Med Genet
; 63(4): 103773, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31561016
19.
Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.
Acta Neuropathol Commun
; 8(1): 52, 2020 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303258
20.
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