Detalles de la búsqueda
1.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun;
15(1): 2269, 2024 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38480682
2.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Br J Dermatol;
190(2): 226-243, 2024 Jan 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37831592
3.
Investigation of common genetic risk factors between thyroid traits and breast cancer.
Hum Mol Genet;
33(1): 38-47, 2023 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37740403
4.
Risperidone response in patients with schizophrenia drives DNA methylation changes in immune and neuronal systems.
Epigenomics;
15(1): 21-38, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36919681
5.
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
Nat Genet;
55(4): 607-618, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36928603
6.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Mov Disord;
38(4): 604-615, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36788297
7.
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Sci Rep;
12(1): 14302, 2022 08 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-35995809
8.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet;
108(6): 1164, 2021 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34087166
9.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet;
108(5): 840-856, 2021 05 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33861953
10.
Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma.
Sci Rep;
11(1): 8932, 2021 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33903625
11.
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium.
Int J Cancer;
148(12): 2935-2946, 2021 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33527407
12.
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Nat Genet;
52(12): 1364-1372, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33230297
13.
Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses.
Neuropsychopharmacology;
45(10): 1637-1644, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32450569
14.
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort).
J Psychopharmacol;
34(5): 524-531, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32126890
15.
Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations.
J Infect Dis;
213(7): 1173-9, 2016 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26690346
16.
Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.
J Infect Dis;
211(2): 317-21, 2015 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25143445
17.
Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis.
Clin Infect Dis;
57(7): 963-70, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23800941
18.
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.
J Am Soc Nephrol;
24(4): 677-83, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23431073
19.
Discovery and mapping of a new expressed sequence tag-single nucleotide polymorphism and simple sequence repeat panel for large-scale genetic studies and breeding of Theobroma cacao L.
DNA Res;
19(1): 23-35, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22210604
20.
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
Neurogenetics;
11(4): 441-8, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20593214