关注
Julian Nevado
Julian Nevado
FEA, Responsable de Genómica, INGEMM. Hospital Universitario La Paz
在 salud.madrid.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
Endothelial dysfunction in aged humans is related with oxidative stress and vascular inflammation
L Rodríguez‐Mañas, M El‐Assar, S Vallejo, P López‐Dóriga, J Solís, ...
Aging cell 8 (3), 226-238, 2009
2692009
Extracellular PBEF/NAMPT/visfatin activates pro-inflammatory signalling in human vascular smooth muscle cells through nicotinamide phosphoribosyltransferase activity
T Romacho, V Azcutia, M Vazquez-Bella, N Matesanz, E Cercas, ...
Diabetologia 52, 2455-2463, 2009
2082009
The anticancer drug cisplatin induces an intrinsic apoptotic pathway inside the inner ear
JR Garcia‐Berrocal, J Nevado, R Ramirez‐Camacho, R Sanz, ...
British journal of pharmacology 152 (7), 1012-1020, 2007
1372007
New microdeletion and microduplication syndromes: A comprehensive review
J Nevado, R Mergener, M Palomares-Bralo, KR Souza, E Vallespín, ...
Genetics and molecular biology 37, 210-219, 2014
1262014
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
L Armengol, J Nevado, C Serra-Juhé, A Plaja, C Mediano, ...
Human genetics 131, 513-523, 2012
1152012
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain
H Verdin, B D'haene, D Beysen, Y Novikova, B Menten, T Sante, ...
PLoS genetics 9 (3), e1003358, 2013
1032013
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ...
Human genetics 135, 569-586, 2016
982016
Simpson-Golabi-Behmel syndrome types I and II
J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ...
Orphanet Journal of Rare Diseases 9, 1-8, 2014
942014
Highly glycated oxyhaemoglobin impairs nitric oxide relaxations in human mesenteric microvessels
S Vallejo, J Angulo, C Peiro, J Nevado, A Sanchez-Ferrer, R Petidier, ...
Diabetologia 43, 83-90, 2000
902000
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies
J Tenorio, P Navas, E Barrios, L Fernández, J Nevado, CA Quezada, ...
Clinical Genetics 88 (6), 579-583, 2015
762015
A deletion and a duplication in distal 22q11. 2 deletion syndrome region. Clinical implications and review
L Fernández, J Nevado, F Santos, D Heine-Suñer, V Martinez-Glez, ...
BMC Medical Genetics 10, 1-13, 2009
712009
Transcriptional activation by artificial recruitment in yeast is influenced by promoter architecture and downstream sequences
L Gaudreau, M Keaveney, J Nevado, Z Zaman, GO Bryant, K Struhl, ...
Proceedings of the National Academy of Sciences 96 (6), 2668-2673, 1999
711999
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ...
Genetics in Medicine 20 (8), 882-889, 2018
702018
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome
A Palencia-Campos, A Ullah, J Nevado, R Yıldırım, E Unal, M Ciorraga, ...
Human molecular genetics 26 (23), 4556-4571, 2017
662017
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19
E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ...
Nature 617 (7962), 764-768, 2023
632023
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
T Eggermann, F Brioude, S Russo, MP Lombardi, J Bliek, ER Maher, ...
European Journal of Human Genetics 24 (6), 784-793, 2016
602016
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
JA Caparrós-Martín, A De Luca, F Cartault, M Aglan, S Temtamy, ...
Human molecular genetics 24 (14), 4126-4137, 2015
602015
Epigenetic age acceleration changes 2 years after antiretroviral therapy initiation in adults with HIV: a substudy of the NEAT001/ANRS143 randomised trial
A Esteban-Cantos, J Rodríguez-Centeno, P Barruz, B Alejos, ...
The lancet HIV 8 (4), e197-e205, 2021
582021
Prevention of endothelial dysfunction in streptozotocin-induced diabetic rats by gliclazide treatment
S Vallejo, J Angulo, C Peiró, A Sánchez-Ferrer, E Cercas, JL Llergo, ...
Journal of Diabetes and its Complications 14 (4), 224-233, 2000
572000
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ...
Clinical genetics 93 (4), 762-775, 2018
552018
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