עקוב אחר
Alberto López Lera
Alberto López Lera
Center for Biomedical Network Research on Rare Diseases (CIBERER)
כתובת אימייל מאומתת בדומיין ciberer.es
כותרת
צוטט על ידי
צוטט על ידי
שנה
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes
D Ponard, C Gaboriaud, D Charignon, A Ghannam, IGA Wagenaar‐Bos, ...
Human mutation 41 (1), 38-57, 2020
872020
SERPING1 mutations in 59 families with hereditary angioedema
A López-Lera, S Garrido, O Roche, M López-Trascasa
Molecular immunology 49 (1-2), 18-27, 2011
712011
International consensus on the use of genetics in the management of hereditary angioedema
AE Germenis, M Margaglione, JB Pesquero, H Farkas, S Cichon, D Csuka, ...
The Journal of Allergy and Clinical Immunology: In Practice 8 (3), 901-911, 2020
672020
Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families
C Marcos, AL Lera, S Varela, T Liñares, MG Alvarez-Eire, ...
Annals of Allergy, Asthma & Immunology 109 (3), 195-200. e2, 2012
652012
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation
A López-Lera, B Favier, RM de la Cruz, S Garrido, C Drouet, ...
Journal of Allergy and Clinical Immunology 126 (6), 1307-1310. e3, 2010
632010
Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion
M Alba-Domínguez, A López-Lera, S Garrido, P Nozal, ...
Orphanet journal of rare diseases 7, 1-8, 2012
572012
Complement study versus CINH gene testing for the diagnosis of type I hereditary angioedema in children
M Pedrosa, E Phillips-Angles, A López-Lera, M López-Trascasa, ...
Journal of clinical immunology 36 (1), 16-18, 2016
532016
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
G Loules, M Zamanakou, F Parsopoulou, S Vatsiou, F Psarros, D Csuka, ...
Gene 667, 76-82, 2018
442018
Autoantibodies against perilipin 1 as a cause of acquired generalized lipodystrophy
F Corvillo, V Aparicio, A López-Lera, S Garrido, D Araújo-Vilar, ...
Frontiers in immunology 9, 2142, 2018
282018
High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B
RB Pouw, I Gómez Delgado, A López Lera, S Rodríguez de Córdoba, ...
Frontiers in immunology 9, 848, 2018
282018
Hereditary angioedema caused by the p. Thr309Lys mutation in the F12 gene: a multifactorial disease
C Gómez-Traseira, A López-Lera, C Drouet, M López-Trascasa, ...
Journal of allergy and clinical immunology 132 (4), 986-989. e5, 2013
272013
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
C Drouet, A López-Lera, A Ghannam, M López-Trascasa, S Cichon, ...
Frontiers in allergy 3, 835503, 2022
262022
Complement as a diagnostic tool in immunopathology
A López-Lera, F Corvillo, P Nozal, JR Regueiro, P Sánchez-Corral, ...
Seminars in Cell & Developmental Biology 85, 86-97, 2019
262019
C1 inhibitor function using contact‐phase proteases as target: evaluation of an innovative assay
A Ghannam, P Sellier, F Defendi, B Favier, D Charignon, A López‐Lera, ...
Allergy 70 (9), 1103-1111, 2015
262015
Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III
ML Baeza, A Rodríguez‐Marco, A Prieto, C Rodríguez‐Sainz, ...
Allergy 66 (7), 981-982, 2011
242011
Hereditary angioedema: insights into inflammation and allergy
C Maas, A López-Lera
Molecular immunology 112, 378-386, 2019
232019
Human plasma C3 is essential for the development of memory B, but not T, lymphocytes
A Jiménez-Reinoso, AV Marin, M Subias, A López-Lera, E Román-Ortiz, ...
Journal of Allergy and Clinical Immunology 141 (3), 1151-1154. e14, 2018
232018
Molecular characterization of three new mutations causing C5 deficiency in two non-related families
A López-Lera, S Garrido, RM de la Cruz, G Fontán, M López-Trascasa
Molecular immunology 46 (11-12), 2340-2347, 2009
182009
Disease-modifying factors in hereditary angioedema: an RNA expression-based screening
A López-Lera, FS Cabo, S Garrido, A Dopazo, M López-Trascasa
Orphanet Journal of Rare Diseases 8, 1-12, 2013
162013
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
R López-Gálvez, ME de la Morena-Barrio, A López-Lera, M Pathak, ...
Orphanet Journal of Rare Diseases 15, 1-10, 2020
122020
המערכת אינה יכולה לבצע את הפעולה כעת. נסה שוב מאוחר יותר.
מאמרים 1–20