Detalles de la búsqueda
1.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1859-1875, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30108311
2.
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1901-1903, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31636380
3.
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.
Hum Mutat
; 41(10): 1811-1829, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32741062
4.
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
Mov Disord
; 35(8): 1336-1345, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32506582
5.
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Brain
; 142(6): 1573-1586, 2019 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31009047
6.
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.
Acta Neuropathol
; 138(2): 173-186, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30911827
7.
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 68-74, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29152850
8.
From Common to Rare Variants: The Genetic Component of Alzheimer Disease.
Hum Hered
; 81(3): 129-141, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28002825
9.
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Am J Med Genet B Neuropsychiatr Genet
; 171B(3): 377-82, 2016 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26978485
10.
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Am J Med Genet B Neuropsychiatr Genet
; 168(7): 586-94, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26129893
11.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Hum Mutat
; 35(3): 294-7, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24302632
12.
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Brain
; 136(Pt 11): 3395-407, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24065723
13.
Glucocorticoids paradoxically promote steroid resistance in B cell acute lymphoblastic leukemia through CXCR4/PLC signaling.
Nat Commun
; 15(1): 4557, 2024 May 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38811530
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38438430
15.
Knowledge, attitudes and practices of French university students towards COVID-19 prevention-are health students better?
PLoS One
; 18(11): e0287716, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37910471
16.
Phenotype and imaging features associated with APP duplications.
Alzheimers Res Ther
; 15(1): 93, 2023 05 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37170141
17.
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Genome Med
; 14(1): 69, 2022 06 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35761418
18.
Cerebrospinal Fluid Profile of Tau, Phosphorylated Tau, Aß42, and Aß40 in Probable Cerebral Amyloid Angiopathy.
J Alzheimers Dis
; 87(2): 791-802, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35367960
19.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Nat Genet
; 54(12): 1786-1794, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36411364
20.
Weighted-LASSO for structured network inference from time course data.
Stat Appl Genet Mol Biol
; 9: Article 15, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20196750